Male Fertility Gene Atlas

CRU Male Germ Cells

About Publications Search Walk Through
Contact Login

Search — return all data sets containing:


Genes, proteins, Ensemble id, rs number, ...

OMICS:

Analysis type:

Conditions:

Species:

Tissue types:

Cell types:

Search parameters:

Number of data sets found per publication

Hover over / click on slices or legend for more information

Number of genes per publication

Hover over / click on slices or legend for more information

Link Access Access Data in Rgv Publication Data Set Important Genes Or Proteins Species Omics Analysis Type Condition Tissue Types Cell Types
Link No Access ASTON et al. 2009, Journal of Andrology. A genome-wide association study of men with azoospermia and oligozoospermia Human Genome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:0000798: Oligozoospermia,
HP:control
Link No Access ASTON et al. 2010, Human Reproduction. Candidate polymorphisms for association with oligozoospermia or azoospermia Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:0000798: Oligozoospermia,
HP:control
Link No Access DALGAARD et al. 2012, Journal of Medical Genetics. Identification of markers using GWAS (Discovery stage) BMP7, KITLG, TGFBR3 Human Genome Genome-wide Association Study HP:0000789: Infertility,
HP:control,
HP:0100728: Germ cell neoplasia,
HP:0000047: Hypospadias,
HP:0008715: Testicular dysgenesis,
HP:0000028: Cryptorchidism
Link No Access DALGAARD et al. 2012, Journal of Medical Genetics. Validation Stage BMP7, KITLG, TGFBR3 Human Genome Targeted Genotyping HP:control,
HP:0100728: Germ cell neoplasia,
HP:0008715: Testicular dysgenesis,
HP:0000028: Cryptorchidism
Link No Access DALGAARD et al. 2012, Journal of Medical Genetics. Geneexpression on testiular level BMP7, KITLG, TGFBR3 Human Proteome Other BTO_0001363: testis,
BTO_0000279: testicular cancer cell
Link No Access HU et al. 2014, Nature Communication. Discovery Stage CDC42BPA, MIR133B-IL17A, HLA-DRA,
ABLIM1, RGS9, TMEM132E-CCT6B		 Human Genome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access HU et al. 2014, Nature Communication. Replication 1 CDC42BPA, MIR133B-IL17A, HLA-DRA,
ABLIM1, RGS9, TMEM132E-CCT6B		 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access HU et al. 2014, Nature Communication. Replication 2 CDC42BPA, MIR133B-IL17A, HLA-DRA,
ABLIM1, RGS9, TMEM132E-CCT6B		 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access HU et al. 2014, Nature Communication. Replication 3 CDC42BPA, MIR133B-IL17A, HLA-DRA,
ABLIM1, RGS9, TMEM132E-CCT6B		 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access KOSOVA et al. 2012, The American Journal of Human Genetics. SNPs Associated with Family Size in Males USP8, UBD, EPSTI1,
LRRC32		 Human Genome Genome-wide Association Study HP:control
Link No Access KOSOVA et al. 2012, The American Journal of Human Genetics. SNPs Associated with Birth Rate in Males USP8, UBD, EPSTI1,
LRRC32		 Human Genome Genome-wide Association Study HP:control
Link No Access KOSOVA et al. 2012, The American Journal of Human Genetics. Replication USP8, UBD, EPSTI1,
LRRC32		 Human Genome Targeted Genotyping HP:control
Link No Access SATO et al. 2013, Biology of Reproduction. Replication 1 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access SATO et al. 2013, Biology of Reproduction. Replication 2 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access SATO et al. 2013, Biology of Reproduction. Meta-analysis of replicaton 1 and replication 2 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access ZHAO et al. 2012, The American Journal of Human Genetics. Discovery Stage HLA-DRA, C6orf10, BTNL2 Human Genome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access ZHAO et al. 2012, The American Journal of Human Genetics. Replication 1 HLA-DRA, C6orf10, BTNL2 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access ZHAO et al. 2012, The American Journal of Human Genetics. Replication 2 HLA-DRA, C6orf10, BTNL2 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access ZHAO et al. 2012, The American Journal of Human Genetics. Meta-analysis of discovery stage, replicaton 1 and replication 2 HLA-DRA, C6orf10, BTNL2 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:control
Link Open Access Rgv Link IRIE et al. 2017, Cell. RNA-Seq results for human PGCLCs, PGCs, and TCam-2 Seminoma cells SOX17, BLIMP1 Human Transcriptome Single-cell RNA-Sequencing BTO_0000379: embryo,
BTO_0000279: testicular cancer cell		 CL_0002322: embryonic stem cell,
CL_0002322: embryonic stem cell,
,
CL_0000670: primordial germ cell,
CL_0002371: somatic cell,
CL_0002322: embryonic stem cell
Link Open Access Rgv Link IRIE et al. 2017, Cell. Comparison of conventional and naive (4i) hESCs SOX17, BLIMP1 Human Transcriptome Single-cell RNA-Sequencing BTO_0000379: embryo CL_0002322: embryonic stem cell,
CL_0002322: embryonic stem cell
Link No Access Rgv Link GKOUNTELA et al. 2015, Cell. Transcriptional landmarks of human prenatal germline development Human Transcriptome Bulk RNA-Sequencing BTO_0000975: ovary,
BTO_0001363: testis		 CL_0000670: primordial germ cell,
,
CL_0002322: embryonic stem cell
Link No Access GKOUNTELA et al. 2015, Cell. DNA methylation in the human germline using developmental landmarks as guides Human Methylome Whole Genome Bisulfite Sequencing BTO_0000975: ovary,
BTO_0001363: testis		 CL_0000670: primordial germ cell,
,
CL_0002322: embryonic stem cell,
Link Open Access GUO et al. 2018, Cell Research. Cell partitioning through the analysis of single cell transcriptomes Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis PLANA_0000219: spermatogonial stem cell,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000019: sperm,
CL_0000115: endothelial cell,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0000020: spermatogonium,
CL_0000235: macrophage,
CL_0002481: peritubular myoid cell
Link Open Access GUO et al. 2018, Cell Research. Similarity between adult state 0 spermatogonia and infant germ cells Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000586: germ cell
Link No Derivatives SUGAWA et al. 2015, The EMBO Journal. Mesoderm-committed PGC-precursor formation from human PSCs and further differentiation towards PGCLC PRDM14 Human Transcriptome Microarray CL_0002322: embryonic stem cell,
CL_0002248: pluripotent stem cell,
,
CL_0000670: primordial germ cell
Link No Derivatives SUGAWA et al. 2015, The EMBO Journal. PGCLC characterization shows global progress of epigenetic reprogramming similar to in vivo PGCs PRDM14 Human Methylome Targeted Deep Bisulfite Sequencing CL_0002322: embryonic stem cell,
CL_0002248: pluripotent stem cell,
Link No Derivatives SUGAWA et al. 2015, The EMBO Journal. OCT4+/BLIMP1+ PGC precursors contribute to the subsequent generation of PGCLCs with similar gene expression compared to mice PRDM14 Human, Mouse Transcriptome Microarray CL_0002322: embryonic stem cell,
CL_0002248: pluripotent stem cell,
Link No Derivatives SUGAWA et al. 2015, The EMBO Journal. Transcriptomics analysis suggests that mouse Prdm14-regulated genes are controlled by different mechanisms in human and mouse PGCs PRDM14 Human, Mouse Transcriptome Microarray CL_0002248: pluripotent stem cell,
,
Link No Access SASAKI et al. 2015, Cell Stem Cell. Differentially expressed genes, compared between key cell types during human PGCLC induction BLIMP1 Human Transcriptome Bulk RNA-Sequencing BTO_0000089: blood CL_0002248: pluripotent stem cell,
,
,
CL_2000001: peripheral blood mononuclear cell
Link No Access SASAKI et al. 2015, Cell Stem Cell. Differentially expressed genes, compared between key cell types during murine PGCLC induction BLIMP1 Mouse Transcriptome Bulk RNA-Sequencing CL_0002322: embryonic stem cell,
,
,
CL_0000352: epiblast cell,
,
CL_0002248: pluripotent stem cell
Link No Access SASAKI et al. 2015, Cell Stem Cell. Epigenetic properties of hPGCLCs affecting imprinting regions BLIMP1 Human Methylome Other CL_0002248: pluripotent stem cell,
Link No Access SASAKI et al. 2015, Cell Stem Cell. A Critical Function of BLIMP1 in hPGCLC Specification BLIMP1 Human Transcriptome Bulk RNA-Sequencing ,
CL_0002248: pluripotent stem cell
Link No Access OMRAN et al. 2008, Nature. Ktu, PF13 Medaka, Human, Chlamydomonas, Mouse Other Functional Study HP:0012265: Ciliary dyskinesia
Link Open Access OLBRICH et al. 2012, Journal of Human Genetics. HYDIN Human Other Functional Study HP:0012265: Ciliary dyskinesia CL_0000066: epithelial cell,
CL_0000019: sperm
Link No Derivatives PAFF et al. 2017, The American Journal of Human Genetics. PIH1D3 Human Other Functional Study HP:0012265: Ciliary dyskinesia CL_0000066: epithelial cell,
CL_0000019: sperm
Link No Access HÖBEN et al. 2018, The American Journal of Human Genetics. C11orf70 Human Other Functional Study HP:0012265: Ciliary dyskinesia BTO_0000089: blood CL_0000066: epithelial cell,
CL_0000542: lymphocyte,
CL_0000019: sperm
Link Open Access TA-SHMA et al. 2018, PLoS Genetics. MNS1, DNAH5 Human Other Functional Study HP:0012864: Abnormal sperm morphology CL_0000066: epithelial cell,
CL_0000019: sperm
Link No Access BEN KHELIFA et al. 2014, The American Journal of Human Genetics. DNAH1 Human Other Functional Study HP:0012265: Ciliary dyskinesia BTO_0001388: trachea CL_0000019: sperm
Link No Access TANG et al. 2017, The American Journal of Human Genetics. CFAP43, CFAP44 Human, Mouse Other Functional Study HP:0012868: Abnormal sperm tail morphology
Link No Access MARTINEZ et al. 2018, Human Reproduction. FSIP2, AKAP4, DNAH1,
CFAP43, CFAP44		 Human Exome Whole Exome Sequencing HP:0012864: Abnormal sperm morphology CL_0000019: sperm
Link No Access WANG et al. 2013, Journal of Proteomics. Human Proteome Other CL_0000019: sperm
Link No Access AMARAL et al. 2014, Journal of Proteome Research. Comparison of the proteomes of asthenozoospermic and normozoospermic samples Human Proteome Other HP:0012206: Abnormal sperm motility,
HP:control		 CL_0000019: sperm
Link No Access AMARAL et al. 2014, Journal of Proteome Research. Comparison of fractionated normozoospermic samples differing in motility: non-migrated versus migrated Human Proteome Other HP:other: Other CL_0000019: sperm
Link No Access AMARAL et al. 2014, Journal of Proteome Research. Low Sperm Motility Seems To Be Associated with AlteredLevels of Specific Categories of Proteins Other Proteome Other HP:0012206: Abnormal sperm motility,
HP:other: Other		 CL_0000019: sperm
Link Open Access MBANGO et al. 2019, Basic and Clinical Andrology. DNAH1, CFAP43, CFAP44,
CFAP69, FSIP2, WDR66 (CFAP251),
AK7		 Human Other Functional Study HP:0012868: Abnormal sperm tail morphology,
HP:0012265: Ciliary dyskinesia
Link No Access Rgv Link ZIMMERMANN et al. 2015, Molecular Endocrinology. Three thousand DE transcripts reflect the high plasticity of the SC transcriptional landscape during the progression of spermatogenesis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000216: Sertoli cell
Link No Access Rgv Link ZIMMERMANN et al. 2015, Molecular Endocrinology. Dynamic expression profiles reflect changes in SC function during the first wave of spermatogenesis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000216: Sertoli cell
Link No Access Rgv Link ZIMMERMANN et al. 2015, Molecular Endocrinology. The SC transcriptome comprises 15 570 high-confidence isoforms during the progression of spermatogenesis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000216: Sertoli cell
Link No Derivatives MITSUNAGA et al. 2017, Proceedings of the National Academy of Science. Transcriptomal Profiling of CD38+ hPGCLCs Produced via 72-h Pre-EB 4i Reprogramming PRDM1, TFAP2C Human Transcriptome Bulk RNA-Sequencing BTO_0000379: embryo,
BTO_0002245: foreskin fibroblast cell line		 CL_0000670: primordial germ cell,
,
CL_0002248: pluripotent stem cell,
CL_0002321: embryonic cell
Link No Derivatives MITSUNAGA et al. 2017, Proceedings of the National Academy of Science. Transcriptomal Consistency of hPGCLCs Produced Using Various Protocols and FACS Markers PRDM1, TFAP2C Human Transcriptome Bulk RNA-Sequencing BTO_0000379: embryo,
BTO_0002245: foreskin fibroblast cell line		 CL_0000670: primordial germ cell,
,
CL_0002248: pluripotent stem cell,
CL_0002321: embryonic cell
Link No Derivatives MITSUNAGA et al. 2017, Proceedings of the National Academy of Science. Expression of the CXCR4 Chemotactic Cytokine Receptor in CD38+ PGCLCs and Transcriptional Effects of CXCL12 PRDM1, TFAP2C Human Transcriptome Bulk RNA-Sequencing BTO_0000379: embryo,
BTO_0002245: foreskin fibroblast cell line		 CL_0000670: primordial germ cell,
,
CL_0002248: pluripotent stem cell,
CL_0002321: embryonic cell
Link No Access Rgv Link WANG et al. 2018, Cell Stem Cell. Global Transcriptional Profiling of Adult Human Testicular Cells and Cell Type Identification HMGA1, PIWIL4, TEX29,
SCML1, CCDC112		 Human Transcriptome Single-cell RNA-Sequencing HP:0011961: Non-obstructive azoospermia,
HP:control		 BTO_0001363: testis CL_0000586: germ cell,
PLANA_0000219: spermatogonial stem cell,
CL_0000020: spermatogonium,
CL_0000216: Sertoli cell,
CL_0002371: somatic cell,
CL_0000018: spermatid
Link No Access WANG et al. 2018, Cell Stem Cell. scRNA-Seq Data of Human Spermatogenesis as a Reference for the Diagnosis of Male-Reproduction-Related Disorders and a Platform for the Dissection of the Spermatogenesis Conservation between Human and Mouse HMGA1, PIWIL4, TEX29,
SCML1, CCDC112		 Human Transcriptome Other HP:0011961: Non-obstructive azoospermia,
HP:control		 BTO_0001363: testis CL_0000178: Leydig cell,
CL_0002481: peritubular myoid cell
Link Open Access Rgv Link HAMMOUD et al. 2015, Genes & Development. Genomic profiling of developing SSCs - strand specific RNA - seq THY1, KIT, OCT4,
ID4, GFRa1		 Mouse Transcriptome Bulk RNA-Sequencing BTO_0001363: testis PLANA_0000219: spermatogonial stem cell,
PLANA_0000219: spermatogonial stem cell
Link Open Access Rgv Link HAMMOUD et al. 2015, Genes & Development. DNA Methylation in SSC subtypes, indications for inproper imprinting in THY1+-enriched SSCs THY1, KIT, OCT4,
ID4, GFRa1		 Mouse Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis,
BTO_0001363: testis		 PLANA_0000219: spermatogonial stem cell,
PLANA_0000219: spermatogonial stem cell
Link No Access Rgv Link LI et al. 1017, Cell Stem Cell. The Gene Expression Landscapes of Human FGCs and their Niche Cells in the Gonads Human Transcriptome Single-cell RNA-Sequencing CL_0000586: germ cell
Link No Access LI et al. 1017, Cell Stem Cell. Transcription Profiles of FGC Niche Cells in the Gonads Human Transcriptome Other BTO_0000534: gonad CL_0002371: somatic cell
Link Open Access Rgv Link TANG et al. 2015, Cell. RNA-Seq Reveals Unique Transcriptional States of hPGCs SOX17, BLIMP1, TFCP2L1,
KLF4		 Human Transcriptome Bulk RNA-Sequencing CL_0000670: primordial germ cell,
CL_0002371: somatic cell
Link Open Access TANG et al. 2015, Cell. Comprehensive DNA Demethylation in hPGCs Revealed by Base-Resolution BS-Seq SOX17, BLIMP1, TFCP2L1,
KLF4		 Human Methylome Whole Genome Bisulfite Sequencing CL_0000670: primordial germ cell,
CL_0002371: somatic cell
Link Open Access TANG et al. 2015, Cell. Schematic showing dynamics of preimplantation and germline epigenetic reprogramming in humans. SOX17, BLIMP1, TFCP2L1,
KLF4		 Human Methylome Whole Genome Bisulfite Sequencing CL_0000670: primordial germ cell
Link No Access Rgv Link GUO et al. 2015, Cell. Transcriptional Profiles of Human PGCs Human Transcriptome Single-cell RNA-Sequencing BTO_0000534: gonad CL_0000670: primordial germ cell,
CL_0002371: somatic cell
Link No Access GUO et al. 2015, Cell. Dynamic Methylome Analysis of Human PGCs Revealed a Global DNA Hypomethylation Pattern Human Methylome Whole Genome Bisulfite Sequencing BTO_0000142: brain,
BTO_0000562: heart,
BTO_0000759: liver,
BTO_0000379: embryo		 CL_0000670: primordial germ cell,
CL_0002371: somatic cell,
CL_0000352: epiblast cell,
,
CL_0000670: primordial germ cell,
CL_0002322: embryonic stem cell
Link No Access CHALMEL et al. 2012, Human Reproduction. Transcriptional Profiling and Spatio-temporal association between gene expression and gene function in human testis Human Transcriptome Bulk RNA-Sequencing HP:0000789: Infertility,
HP:control,
HP:other: Other		 BTO_0001363: testis,
BTO_0001363: testis		 CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0000020: spermatogonium,
CL_0000178: Leydig cell,
CL_0002481: peritubular myoid cell,
CL_0000020: spermatogonium
Link Open Access GUO et al. 2017, Cell Stem Cell. Genomic Profiling of SSEA4+ hSSCs and c-KIT+ Spermatogonia - Methylome OCT4, NANOG, NFYA,
NFYB, DMRT1, DAZL,
DDX4, SALL4, SYCP3,
PRM2, GATA4, LHCGR		 Human Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis PLANA_0000219: spermatogonial stem cell,
CL_0000020: spermatogonium
Link Open Access Rgv Link GUO et al. 2017, Cell Stem Cell. Genomic Profiling of SSEA4+ hSSCs and c-KIT+ Spermatogonia - Transcriptome OCT4, NANOG, NFYA,
NFYB, DMRT1, DAZL,
DDX4, SALL4, SYCP3,
PRM2, GATA4, LHCGR		 Human Transcriptome Bulk RNA-Sequencing BTO_0001363: testis PLANA_0000219: spermatogonial stem cell,
CL_0000020: spermatogonium
Link Open Access Rgv Link GUO et al. 2017, Cell Stem Cell. Genomic Profiling of SSEA4+ hSSCs and c-KIT+ Spermatogonia - Transcriptome (scRNA-seq in isolated SSEA4+ and c-KIT+ cells) OCT4, NANOG, NFYA,
NFYB, DMRT1, DAZL,
DDX4, SALL4, SYCP3,
PRM2, GATA4, LHCGR		 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis PLANA_0000219: spermatogonial stem cell,
CL_0000020: spermatogonium
Link No Derivatives SOHNI et al. 2019, Cell Reports. Cell Subsets in the Adult Human Testis Defined by scRNA-Seq and DEGs Corresponding to Adult and Neonatal Germ Cell Clusters Human Transcriptome Single-cell RNA-Sequencing HP:control BTO_0001363: testis,
BTO_0001363: testis		 CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0002481: peritubular myoid cell,
CL_0000178: Leydig cell,
CL_0000115: endothelial cell,
CL_0000235: macrophage,
PLANA_0000219: spermatogonial stem cell,
CL_0000020: spermatogonium,
CL_0000081: blood cell,
CL_0000020: spermatogonium,
CL_0000020: spermatogonium,
Link No Derivatives SOHNI et al. 2019, Cell Reports. Germ Cell Subsets in Neonatal Human Testes and Somatic Cell Gene Expression Human Transcriptome Single-cell RNA-Sequencing HP:other: Other BTO_0001363: testis CL_0000586: germ cell,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0000115: endothelial cell,
CL_0000081: blood cell,
CL_0000020: spermatogonium,
CL_0000670: primordial germ cell
Link Open Access Rgv Link CHEN et al. 2018, Cell Research. A comprehensive transcriptome landscape of mouse mitotic, meiotic, and postmeiotic cells Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000019: sperm
Link Open Access CHEN et al. 2018, Cell Research. Alternative splicing genes and differentially expressed splicing factors during mouse spermatogenesis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000019: sperm
Link No Access Rgv Link GREEN et al. 2018, Developmental Cell. Single Cell RNA-Seq Establishes a Detailed Atlas of Cellular Heterogeneity in the Adult Mouse Testis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0002481: peritubular myoid cell,
CL_0000178: Leydig cell,
CL_0000115: endothelial cell,
CL_0000235: macrophage,
CL_0001069: group 2 innate lymphoid cell,
CL_0008019: mesenchymal cell
Link Open Access Rgv Link LUKASSEN et al. 2018, Scientific Reports. Use of scRNA-seq to establish expression profiles of 2,550 germ cells from the adult mouse testis Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0000018: spermatid
Link No Derivatives Rgv Link HERMANN et al. 2018, Cell Reports. Single-Cell Transcriptomes of Human Steady-State Spermatogenic Cells Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001235: seminiferous tubule		 CL_0000019: sperm,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link No Derivatives Rgv Link HERMANN et al. 2018, Cell Reports. Single-Cell Transcriptomes of Mouse Steady-State Spermatogenic Cells Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001235: seminiferous tubule		 CL_0000019: sperm,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link No Derivatives HERMANN et al. 2018, Cell Reports. Heterogeneity among Adult Spermatogonia in Mice and Men and Meiotic Progression among Steady-State Spermatocytes Human, Mouse Transcriptome Single-cell RNA-Sequencing CL_0000017: spermatocyte,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000020: spermatogonium
Link No Derivatives HERMANN et al. 2018, Cell Reports. Developmental order of Spermatogonial Clusters Human, Mouse Transcriptome Other CL_0000020: spermatogonium,
CL_0000020: spermatogonium,
CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000017: spermatocyte
Link No Derivatives HERMANN et al. 2018, Cell Reports. Spermatogonial Gene Expression Programs in the Immature Mouse Testis Are Distinct from Those in the Adult Mouse Testis Mouse Transcriptome Other BTO_0001363: testis,
BTO_0001363: testis		 CL_0000020: spermatogonium,
CL_0000020: spermatogonium
Link Open Access GOMES FERNANDES et al. 2018, MHR: Basic Science of Reproductive Medicine. Evaluation of putative hPGC markers in the caudal part of a single human embryo at 4.5 weeks of development POU5F1, NANOG, PRDM1,
TFAP2C, KIT, SOX17		 Human Other Immunohistochemistry BTO_0000534: gonad,
,
BTO_0000671: kidney,
,
BTO_0001078: placenta,
BTO_0000269: colon		 CL_0000670: primordial germ cell,
Link Open Access GOMES FERNANDES et al. 2018, MHR: Basic Science of Reproductive Medicine. Early hPGCs showed a distinct epigenetic state from the somatic compartment POU5F1, NANOG, PRDM1,
TFAP2C, KIT, SOX17		 Human Methylome Other CL_0000670: primordial germ cell,
CL_0002371: somatic cell
Link Open Access GOMES FERNANDES et al. 2018, MHR: Basic Science of Reproductive Medicine. Expression of mPGC-markers, mesenchymal and adhesion molecules in early hPGCs and signalling pathways POU5F1, NANOG, PRDM1,
TFAP2C, KIT, SOX17		 Human Other Immunohistochemistry ,
BTO_0000315: ectoderm,
BTO_0001768: notochord,
BTO_0001057: neural tube,
BTO_0000545: gut,
BTO_0000742: myotome,
BTO_0006248: dermatome,
BTO_0002045: capillary		 CL_0000670: primordial germ cell,
CL_0000115: endothelial cell,
CL_0002371: somatic cell
Link No Access LIMA et al. 2015, Andrology. Screening of the DMRT1 sequence of 155 NOA patients by Sanger sequencing DMRT1 Human Genome Sanger Sequencing HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Derivatives LOPES et al. 2013, PLoS Genetics. Studying the genomewide distribution of CNVs in our primary cohort from Utah DMRT1 Human Genome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:0000798: Oligozoospermia,
HP:control		 BTO_0000089: blood CL_0000542: lymphocyte
Link No Derivatives LOPES et al. 2013, PLoS Genetics. Replication of the initial findings in Caucasion Cohort (Cohort 2-Porto, Weill Cornell) DMRT1 Human Genome Microarray HP:0000027: Azoospermia,
HP:control		 BTO_0000089: blood CL_0000542: lymphocyte
Link No Derivatives LOPES et al. 2013, PLoS Genetics. Replication of the initial findings (Cohort 3- WUSTL) DMRT1 Human Genome Genome-wide Association Study HP:0003251: Male infertility,
HP:control		 BTO_0000089: blood CL_0000542: lymphocyte
Link No Derivatives LOPES et al. 2013, PLoS Genetics. Comparison between Cohort 1, 2 and 3 DMRT1 Human Genome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:0000027: Azoospermia,
HP:0000798: Oligozoospermia,
HP:0003251: Male infertility,
HP:control		 BTO_0000089: blood CL_0000542: lymphocyte
Link No Derivatives LOPES et al. 2013, PLoS Genetics. HBD analysis- Identification of a candidate azoospermia mutation in the case of UPD2. DMRT1 Human Exome Whole Exome Sequencing
Link No Access NAKAMURA et al. 2017, Andrology. Detection and characterization of Nucleotide Substitutions and Copy Number Variants (CNV) SOHLH1, TEX11 Human Genome Other HP:0011961: Non-obstructive azoospermia,
HP:control		 CL_0000081: blood cell
Link Open Access YANG et al. 2015, EMBO Molecular Medicine. Frequent singleton TEX11 mutations in men with spermatogenic failure and the identification of missense mutations causing chromosomal synapsis defects TEX11 Human Genome Other HP:0011961: Non-obstructive azoospermia,
HP:control		 BTO_0001363: testis CL_0000017: spermatocyte
Link Open Access YANG et al. 2015, EMBO Molecular Medicine. Experimental transfer of Tex11 from the X chromosome to an autosome TEX11 Mouse Transcriptome Other BTO_0001363: testis,
BTO_0001363: testis		 CL_0000018: spermatid,
CL_0000017: spermatocyte
Link Open Access YANG et al. 2015, EMBO Molecular Medicine. Defective meiosis in the first wave of spermatogenesis in Tex11 KI/KO mice TEX11 Mouse Transcriptome Other BTO_0001363: testis,
BTO_0001363: testis,
BTO_0000975: ovary,
BTO_0000975: ovary		 CL_0000017: spermatocyte,
CL_0000023: oocyte,
CL_0000017: spermatocyte
Link Open Access RUF-ZAMOJSKI et al. 2018, Frontiers in Endocrinology. Transcriptome profiling- LβT2 cells were serum starved overnight and stimulated with either 5 nm GnRH or vehicle for 45 min. Mouse Transcriptome Bulk RNA-Sequencing BTO_0000534: gonad ,
,
Link Open Access RUF-ZAMOJSKI et al. 2018, Frontiers in Endocrinology. Genome-Wide Mapping of Chromatin Accessibility in LβT2 Cells- ATAC Seq_LβT2 cells treated with 2 nM GnRH pulses every 2 h for a duration of 6 h and 45 min Mouse Other Genome-wide Chromatin Accessibility BTO_0000534: gonad ,
Link Open Access RUF-ZAMOJSKI et al. 2018, Frontiers in Endocrinology. Gel bead-in-emulsion Drop-seq data- SC Transcriptome Analysis of LβT2 Cells and Characterization of Early Gene Response to GnRH and Cell Cycle Dependence Mouse Transcriptome Other BTO_0000534: gonad ,
,
Link Open Access LAURENTINO et al. 2019, Clinical Epigenetics. Single-cell RNA-Sequencing from Klinefelter testicular tissue Human Transcriptome Single-cell RNA-Sequencing HP:klinefelter: Klinefelter Syndrome BTO_0001363: testis CL_0000115: endothelial cell,
CL_0002481: peritubular myoid cell,
CL_0000178: Leydig cell,
CL_0000586: germ cell,
CL_0000216: Sertoli cell,
CL_0000235: macrophage
Link Open Access LAURENTINO et al. 2019, Clinical Epigenetics. DNA methylation analysis of germ and somatic cell fractions in normal and Klinefelter patients. Human Methylome Targeted Deep Bisulfite Sequencing HP:control,
HP:klinefelter: Klinefelter Syndrome		 BTO_0000089: blood,
,
,
,
,
BTO_0000089: blood		 CL_0000019: sperm
Link Open Access ARAUJO et al. 2019, Andrology. DMRT1, REC8, TEX15,
KLHL10, DNMT3B, TEX14,
SYCE1L		 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia,
HP:control
Link Open Access ARAUJO et al. 2019, Andrology. Validation DMRT1, REC8, TEX15,
KLHL10, DNMT3B, TEX14,
SYCE1L		 Human Genome Sanger Sequencing HP:0011961: Non-obstructive azoospermia
Link No Access BUSCH et al. 2019, The Journal of Clinical Endocrinology & Metabolism. FSHR, FSHB Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia,
HP:0011962: Obstructive azoospermia,
HP:other: Other,
HP:klinefelter: Klinefelter Syndrome		 BTO_0001363: testis
Link Open Access VAN DER BIJL et al. 2019, Human Reproduction. Screening of infertile men with meiotic arrest for relevant STAG3 variants STAG3 Human Genome Sanger Sequencing HP:0011961: Non-obstructive azoospermia
Link Open Access VAN DER BIJL et al. 2019, Human Reproduction. Whole exome sequencing of patient M870 with STAG3 variant and meiotic arrest STAG3 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia
Link Open Access VAN DER BIJL et al. 2019, Human Reproduction. Meiotic spreads and immunofluorescence staining of patient M870 with STAG3 variant and meiotic arrest STAG3 Human Other Other HP:0011961: Non-obstructive azoospermia
Link Open Access VAN DER BIJL et al. 2019, Human Reproduction. Screening of 276 infertile men for relevant STAG3 variants: No additional patient with STAG3 variant identified STAG3 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia,
HP:0030974: Cryptozoospermia,
HP:sco: Sertoli Cell Only Phenotype,
HP:MA: Mixed Atrophy
Link No Derivatives CHEN et al. 2019, Cell reports. Ex-vivo: Tracing the Specification of hPGCs TFAP2A, SOX17 Human Proteome Other HP:control BTO_0001099: blastocyst,
BTO_0000379: embryo
Link No Derivatives CHEN et al. 2019, Cell reports. In vitro: Tracing the specification of hPGCs using hPGCL cell culture TFAP2A, SOX17 Human Transcriptome Single-cell RNA-Sequencing CL_0002322: embryonic stem cell,
CL_0002371: somatic cell,
Link No Derivatives CHEN et al. 2019, Cell reports. hPGCLCs Are Specified through a Pluripotent State with Both Naive and Primed Characteristics TFAP2A, SOX17 Human Transcriptome Single-cell RNA-Sequencing CL_0002322: embryonic stem cell,
CL_0002322: embryonic stem cell
Link No Derivatives CHEN et al. 2019, Cell reports. TFAP2C Functions Upstream of SOX17 and Safeguards Germ Cell Fate in the Germline Trajectory TFAP2A, SOX17 Human Transcriptome Other CL_0002322: embryonic stem cell,
CL_0002322: embryonic stem cell,
CL_0002322: embryonic stem cell
Link No Access CASTILLO et al. 2018, Human Reproduction Update. Human Proteome Other BTO_0001422: uterine endometrium,
BTO_0004383: follicular fluid		 CL_0000019: sperm,
CL_0000023: oocyte,
CL_0002321: embryonic cell,
CL_0000711: cumulus cell
Link Open Access AGARWAL et al. 2020, International Journal of Molecular Sciences. Human Proteome Other CL_0000019: sperm
Link No Access HE et al. 2019, Journal of Medical Genetics. Identification of homozygous frameshift mutation (p.leu357Hisfs*11) in CFAP69 (cilia and flagella-associated protein 69) AKAP4, DNAH1, CFAP43,
CFAP44, CFAP69		 Human Exome Whole Exome Sequencing HP:0012868: Abnormal sperm tail morphology CL_0000081: blood cell,
CL_0000019: sperm
Link No Access HE et al. 2019, Journal of Medical Genetics. Roles of CFAP69 in sperm flagellar formation AKAP4, DNAH1, CFAP43,
CFAP44, CFAP69		 Human Proteome Immunohistochemistry HP:0012868: Abnormal sperm tail morphology,
HP:control		 CL_0000019: sperm
Link No Access HE et al. 2019, Journal of Medical Genetics. Cfap69 knockout (KO) leads to male infertility and sperm flagellar malformation in mice AKAP4, DNAH1, CFAP43,
CFAP44, CFAP69		 Mouse Proteome Immunohistochemistry BTO_0001363: testis,
BTO_0000408: epididymis		 CL_0000019: sperm
Link No Access COUTTON et al. 2019, The American Journal of Human Genetics. ARMC2, DNAH1, CFAP43,
CFAP44, CFAP69, FSIP2,
WDR66		 Human Exome Functional Study HP:0012864: Abnormal sperm morphology CL_0000019: sperm
Link No Access KHERRAF et al. 2018, The American Journal of Human Genetics. WDR66, CFAP251, CFAP43,
CFAP44		 Human Exome Functional Study HP:0012864: Abnormal sperm morphology CL_0000019: sperm
Link No Access WYRWOLL et al. 2020, American journal of Human Genetics. Variants in M1AP M1AP Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia
Link No Access WYRWOLL et al. 2020, American journal of Human Genetics. Testis RNA analysis M1AP Human Transcriptome Other HP:0011961: Non-obstructive azoospermia,
HP:control		 BTO_0001363: testis
Link No Access WYRWOLL et al. 2020, American journal of Human Genetics. Functional analysis M1AP Human Proteome Other
Link No Access LECLUZE et al. 2020, Human Reproduction. Human Transcriptome Immunohistochemistry BTO_0000534: gonad
Link No Access VON KOPYLOW et al. 2010, Human Reproduction. FGFR3, DSG2 Human Exome Immunohistochemistry BTO_0006348: type A spermatogonium
Link Open Access FEIG et al. 2007, Molecular Human Reproduction. Study 1 Human Exome Microarray HP:0011961: Non-obstructive azoospermia BTO_0006172: testicular somatic cell
Link No Derivatives OKADA et al. 2008, PLoS Genetics. Study 1 ART3, ART3-SNP25 Human Exome Microarray HP:0011961: Non-obstructive azoospermia,
HP:0011962: Obstructive azoospermia
Link Open Access OUD et al. 2019, Human Reproduction. Systematic literature search Human Genome Other
Link Open Access LAURENTINO et al. 2020, Aging Cell. Sperm DNA shows widespread DNA methylation changes with age Human Methylome Whole Genome Bisulfite Sequencing HP:control CL_0000019: sperm
Link Open Access LAURENTINO et al. 2020, Aging Cell. Sperm telomere length increases with age Human Genome Other HP:other: Other CL_0000019: sperm
Link Open Access LAURENTINO et al. 2020, Aging Cell. Reproductive parameters in healthy ageing men Human Other Other HP:other: Other BTO_0001363: testis CL_0000019: sperm
Link No Access SCHILIT et al. 2020, American Journal of Human Genetics. DGAP230 Breakpoint Characterization SYCP2 Human Genome Microarray HP:0000798: Oligozoospermia CL_0000019: sperm
Link No Access SCHILIT et al. 2020, American Journal of Human Genetics. Identification of Candidate Genes for DGAP230’s Severe Oligozoospermia SYCP2 Human Exome Other HP:0000798: Oligozoospermia,
HP:control
Link No Access SCHILIT et al. 2020, American Journal of Human Genetics. Determination of the Cytogenetic Etiology of SYCP2 Dysregulation SYCP2 Human Genome Other HP:0000798: Oligozoospermia
Link No Access SCHILIT et al. 2020, American Journal of Human Genetics. Analysis of the Impact of SYCP2 Misexpression on Severe Oligozoospermia SYCP2 S. cerevisiae (model organism) Proteome Immunohistochemistry HP:other: Other
Link No Access SCHILIT et al. 2020, American Journal of Human Genetics. Identification of Additional Male Infertility Case Subjects with SYCP2 Loss-of-Function Variants SYCP2 Human Exome Other HP:0030974: Cryptozoospermia,
HP:0000027: Azoospermia
Link No Access KRAUSZ et al. 2020, Genetics in Medicine. Identification of Novel NOA genes ADAD2, TERB1, SHOC1,
MSH4, RAD21L1; TEX14, DMRT1,
TEX11, SYCE1, MEIOB,
MEI1, STAG3		 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia
Link No Access KRAUSZ et al. 2020, Genetics in Medicine. Genetic defects in complete SCA: TERB1, SHOC1, MSH4, RAD21L1, SYCE1, TEX11, MEIOB, MEI1, and STAG3 ADAD2, TERB1, SHOC1,
MSH4, RAD21L1; TEX14, DMRT1,
TEX11, SYCE1, MEIOB,
MEI1, STAG3		 Human Other Immunohistochemistry HP:0031038: Spermatogenesis maturation arrest BTO_0001363: testis
Link Open Access PORTELA et al. 2020, Journal of clinical medicine. Density of Spermatogonial Subpopulations during Testicular Development MAGEA4, UTF1, PCNA Human Proteome Immunohistochemistry HP:control,
HP:other: Other		 BTO_0001363: testis CL_0000020: spermatogonium
Link Open Access SCHUBERT et al. 2020, Andrology. Reproductive parameters in the NOA/OA patient cohorts FSH, FSHB, LHX3 Human Proteome Immunohistochemistry HP:0000027: Azoospermia BTO_0001363: testis CL_0000216: Sertoli cell,
CL_0000018: spermatid,
CL_0000020: spermatogonium
Link No Access BANG et al. 2017, Andrology. Statistical analysis of genotype phenotype correlation FSHR, FSHB Human Genome Targeted Genotyping HP:control,
HP:0100728: Germ cell neoplasia,
HP:other: Other
Link Open Access POHL et al. 2020, Aging and disease. Pyrosequencing and age prediction Human Methylome Other HP:control,
HP:other: Other,
HP:klinefelter: Klinefelter Syndrome		 CL_0000081: blood cell
Link Open Access POHL et al. 2020, Aging and disease. Telomere length determination Human Genome Targeted Genotyping HP:control,
HP:other: Other,
HP:klinefelter: Klinefelter Syndrome
Link Open Access WISTUBA et al. 2020, Scientific Reports. Testicular vascularization during development Mouse Other Immunohistochemistry HP:control,
HP:klinefelter: Klinefelter Syndrome		 BTO_0001363: testis
Link Open Access WISTUBA et al. 2020, Scientific Reports. Determination of testicular blood flow by contrast enhanced ultrasound analysis (CEUS) Mouse Other Functional Study HP:control,
HP:klinefelter: Klinefelter Syndrome		 BTO_0001102: blood vessel,
BTO_0001363: testis
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 1. Trim71 is expressed in spermatogonial stem cells (SSCs) of adult fertile mice. TRIM71 Mouse Transcriptome Single-cell RNA-Sequencing
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 2. Germline-specific Trim71 cKO male mice present a Sertoli cell-only (SCO) phenotype. TRIM71 Mouse Other Other
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 3. Infertility in germline-specific Trim71 cKO male mice has an embryonic origin. TRIM71 Mouse Proteome Other
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 4. TRIM71 controls proliferation in the in vitro PGC-like model cell line TCam-2. TRIM71 Human Transcriptome Other
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 5. NCCIT cells with TRIM71 mutations show population maintenance defects in growth competition assays. TRIM71 Human Genome Targeted Genotyping
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Figure 6. Exome sequencing in infertile SCO patients reveals an association of TRIM71 deficiency with human male infertility. TRIM71 Human Exome Whole Exome Sequencing
Link Open Access TORRES-FERNÁNDEZ 2021, Frontiers in Cell and Developmental Biology. Table 1. TRIM71 variants identified in infertile men within the MERGE cohort. TRIM71 Human Exome Whole Exome Sequencing
Link No Access HECKMANN et al. 2020, Molecular human reproduction. Developmental parameters of marmoset monkeys MAGEA4, BOLL, SYCP3,
CREM, ACRV1		 Marmoset Other Other HP:control BTO_0001363: testis
Link No Access HECKMANN et al. 2020, Molecular human reproduction. Effects of culture on testicular tissues MAGEA4, BOLL, SYCP3,
CREM, ACRV1		 Marmoset Other Immunohistochemistry HP:control BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte
Link No Access HECKMANN et al. 2020, Molecular human reproduction. Progression of in vitro differentiation in 8-month-old marmoset MC933 MAGEA4, BOLL, SYCP3,
CREM, ACRV1		 Marmoset Other Immunohistochemistry HP:other: Other BTO_0001363: testis CL_0000216: Sertoli cell,
CL_0000017: spermatocyte
Link No Access RENNHACK et al. 2020, British journal of pharmacology. Synthesis of RU1968 CATSPER Other Other Functional Study HP:other: Other CL_0000019: sperm
Link No Access RENNHACK et al. 2020, British journal of pharmacology. RU1968F1 is a potent cross‐species inhibitor of CatSper channels CATSPER Human Other Functional Study CL_0000019: sperm
Link No Access RENNHACK et al. 2020, British journal of pharmacology. RU1968F1 inhibits human but not mouse Slo3 channels CATSPER Human, Mouse Other Functional Study CL_0000019: sperm
Link No Access RENNHACK et al. 2020, British journal of pharmacology. RU19681F1 suppresses progesterone‐evoked motility responses in human sperm CATSPER Other Other Functional Study CL_0000019: sperm
Link No Access POHL et al. 2019, Andrology. Spermatogenic dynamics in different age groups from men with normal spermatogenesis Human Proteome Immunohistochemistry HP:0000027: Azoospermia,
HP:other: Other		 BTO_0001363: testis CL_0000019: sperm,
CL_0000020: spermatogonium
Link No Access POHL et al. 2019, Andrology. Proliferation of spermatogonia and spermatogenic efficiency Human Proteome Immunohistochemistry HP:other: Other
Link No Access POHL et al. 2019, Andrology. Nuclear and nucleolar morphometry in Sertoli cells Human Other Immunohistochemistry HP:other: Other
Link No Access POHL et al. 2019, Andrology. Comparative analysis to patients with meiotic arrest Human Proteome Immunohistochemistry HP:0000027: Azoospermia,
HP:other: Other
Link Open Access DOUGHERTY et al. 2020, Nature communications. Loss-of-function CFAP45 mutations cause a motile ciliopathy CFAP45, CFAP52, AK 8 Human, Mouse Exome Whole Exome Sequencing HP:0012207: Reduced sperm motility,
HP:control,
HP:0012265: Ciliary dyskinesia		 BTO_0000203: respiratory system,
BTO_0002637: respiratory epithelium cell line		 CL_0000019: sperm
Link Open Access DOUGHERTY et al. 2020, Nature communications. Proteomic profiling links axonemal CFAP45 to dynein ATPase components CFAP45, CFAP52, AK 8 Human, Mouse, Porcine Proteome Immunohistochemistry CL_0002368: respiratory epithelial cell,
CL_1000497: kidney cell
Link Open Access DOUGHERTY et al. 2020, Nature communications. Axonemal CFAP45 abnormalities are associated with a common cause of PCD CFAP45, CFAP52, AK 8 Human Proteome Immunohistochemistry HP:0012265: Ciliary dyskinesia CL_0000064: ciliated cell
Link Open Access DOUGHERTY et al. 2020, Nature communications. CFAP45 and CFAP52 orthologs have a conserved motile ciliary function CFAP45, CFAP52, AK 8 Mouse Other Functional Study HP:0012207: Reduced sperm motility,
HP:control		 CL_0000064: ciliated cell,
CL_0000019: sperm
Link Open Access DOUGHERTY et al. 2020, Nature communications. CFAP45 mediates adenine nucleotide homeostasis via AMP binding CFAP45, CFAP52, AK 8 Human Proteome Functional Study HP:0012207: Reduced sperm motility,
HP:control		 CL_0000019: sperm
Link No Derivatives SCHIFFER et al. 2020, EMBO journal. The expression of pore‐forming CatSper subunits is not strictly interdependent CATSPER, CATSPER2 Human Proteome Immunohistochemistry HP:0000789: Infertility,
HP:control		 CL_0000019: sperm
Link No Derivatives SCHIFFER et al. 2020, EMBO journal. Human sperm do not require functional CatSper channelsfor longitudinal rolling CATSPER, CATSPER2 Human Proteome Functional Study CL_0000019: sperm
Link No Derivatives SCHIFFER et al. 2020, EMBO journal. Longitudinal rolling of human sperm does not require an influx of Ca2+ CATSPER, CATSPER2 Human Proteome Functional Study CL_0000019: sperm
Link No Derivatives SCHIFFER et al. 2020, EMBO journal. CatSper‐deficient human sperm display rheotaxis CATSPER, CATSPER2 Human Proteome Functional Study HP:0012206: Abnormal sperm motility,
HP:control		 CL_0000019: sperm,
CL_0000019: sperm
Link No Derivatives LOGES et al. 2018, American Journal of Human Genetics. Analysis of participants with laterality defects and mild or no respiratory symptoms and PCD DNAH9, DNAH11, DNAH5,
DNAI1, DNAI2, CCDC114		 Human Genome Sanger Sequencing HP:other: Other,
HP:0012265: Ciliary dyskinesia
Link No Derivatives LOGES et al. 2018, American Journal of Human Genetics. DNAH9 expression DNAH9, DNAH11, DNAH5,
DNAI1, DNAI2, CCDC114		 Human Proteome Immunohistochemistry HP:other: Other CL_0000542: lymphocyte,
CL_0000081: blood cell,
,
CL_0002368: respiratory epithelial cell
Link No Derivatives LOGES et al. 2018, American Journal of Human Genetics. Analysis of the localization of DNAH9 and effect of various DNAH mutations on ODA protein DNAH9, DNAH11, DNAH5,
DNAI1, DNAI2, CCDC114		 Human Proteome Immunohistochemistry HP:other: Other BTO_0000203: respiratory system CL_0002368: respiratory epithelial cell
Link No Access BRENKER et al. 2018, Human Reproduction. Synergistic activation of human CatSper by progesterone and PGE1 CATSPER Human Proteome Functional Study HP:control CL_0000019: sperm
Link No Access BRENKER et al. 2018, Human Reproduction. Synergistic activation of human CatSper by EDCs CATSPER Human Proteome Functional Study HP:control CL_0000019: sperm
Link No Access WANG et al. 2020, Journal of Biological Chemistry. CatSper is not activated by intracellular cAMP or cAMP/PKA signaling CATSPER Human Proteome Functional Study HP:control CL_0000019: sperm
Link No Access WANG et al. 2020, Journal of Biological Chemistry. Membrane-permeable cAMP analogs activate CatSper only from the outside CATSPER Human Proteome Functional Study HP:control,
HP:other: Other		 CL_0000019: sperm
Link No Access WANG et al. 2020, Journal of Biological Chemistry. Human CatSper is activated by cyclic nucleotides via a so-far-unknown binding site CATSPER Human Proteome Functional Study
Link No Access WANG et al. 2020, Journal of Biological Chemistry. The action of PKA inhibitors on CatSper does not rest on inhibition of PKA CATSPER Human Proteome Functional Study HP:control CL_0000019: sperm
Link No Access CINDRIĆ et al. 2020, American journal of respiratory cell and molecular biology. Analysis of SPEF2, HYDIN mutants SPEF, HYDIN Human Genome Genome-wide Association Study HP:other: Other BTO_0002637: respiratory epithelium cell line CL_0000064: ciliated cell
Link No Access CINDRIĆ et al. 2020, American journal of respiratory cell and molecular biology. Identification of a Homozygous Loss-Of-Function SPEF2 Mutation and Clinical Findings in OP-2013 & study concept SPEF, HYDIN Other Genome Targeted Genotyping HP:other: Other BTO_0002637: respiratory epithelium cell line CL_0002368: respiratory epithelial cell
Link No Access CINDRIĆ et al. 2020, American journal of respiratory cell and molecular biology. Identification of New HYDIN Mutations Causing PCD SPEF, HYDIN Human Genome Whole Exome Sequencing HP:other: Other CL_0000081: blood cell
Link No Access CINDRIĆ et al. 2020, American journal of respiratory cell and molecular biology. Clinical and Molecular Findings in the Affected Individuals with Mutations in HYDIN SPEF, HYDIN Human Genome Immunohistochemistry HP:other: Other CL_0002368: respiratory epithelial cell
Link No Access ALHATHAL et al. 2020, Genetics in Medicine. Chromosomal aberrations in male infertility CFAP44, NANOS1, SYCP2,
TEX11, TTC21A, USP9Y,
ZMYND15, TERB1 [CCDC79], PIWIL2,
MAGEE2, ZSWIM7		 Human Genome Other HP:0000789: Infertility BTO_0001363: testis CL_0000019: sperm
Link No Access ALHATHAL et al. 2020, Genetics in Medicine. The landscape of point variants in male infertility CFAP44, NANOS1, SYCP2,
TEX11, TTC21A, USP9Y,
ZMYND15, TERB1 [CCDC79], PIWIL2,
MAGEE2, ZSWIM7		 Human Genome Whole Exome Sequencing HP:0003251: Male infertility,
HP:control
Link No Access Chen et al. 2020, Human Molecular Genetics. Analysis of the NOA/SO Exomes BRDT, CHD5, MCM9,
MLH3, ZFX		 Human Exome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia,
HP:0000798: Oligozoospermia,
HP:control
Link No Access Chen et al. 2020, Human Molecular Genetics. Evaluation of the WES data of unsolved cases to identify potentially novel genetic causes of human NOA BRDT, CHD5, MCM9,
MLH3, ZFX		 Human Exome Genome-wide Association Study HP:0011961: Non-obstructive azoospermia
Link No Access Fakhro et al. 2018, Genet Med. Identification of NOA-related genes in the families CCDC155, NANOS2, SPO11,
TEX14, and WNK3		 Human Exome Whole Exome Sequencing HP:other: Other CL_0000019: sperm
Link No Access Fakhro et al. 2018, Genet Med. Point-of-care assessment of a sporadic NOA cohort CCDC155, NANOS2, SPO11,
TEX14, and WNK3		 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia,
HP:control
Link No Access AN et al. 2021, Journal of Assisted Reproduction and Genetics. Gene variants & Clinical characteristics TEX11, TEX14, SYCE1 Human Genome Targeted Genotyping HP:0011961: Non-obstructive azoospermia BTO_0001363: testis CL_0000216: Sertoli cell
Link No Access AN et al. 2021, Journal of Assisted Reproduction and Genetics. Deleterious function of NR5A1 mutations TEX11, TEX14, SYCE1 Human Proteome Functional Study HP:0011961: Non-obstructive azoospermia BTO_0001363: testis
Link Open Access APREA et al. 2023, Frontiers in Genetics. PCD-affected individuals with undiagnosed mutational status CCDC39, CCDC40, RSPH1,
RSPH9, HYDIN, SPEF2		 Human Exome Whole Exome Sequencing BTO_0000553: peripheral blood CL_0000081: blood cell
Link Open Access APREA et al. 2023, Frontiers in Genetics. MMAF-affected individuals with undiagnosed mutational status CCDC39, CCDC40, RSPH1,
RSPH9, HYDIN, SPEF2		 Human Exome Whole Exome Sequencing BTO_0000553: peripheral blood CL_0000081: blood cell
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. Stage-specific gene and transcript dynamics in human germ cells TSPY4, LUZP4, HMGB4,
RWDD2A, CCDC183, CNNM1,
SERF1B, SOX15, SPATA4,
SYCP3, MKI67, NR5A1,
CFTR, PLK4, DMRT1,
SYCE1		 Human Transcriptome Bulk RNA-Sequencing BTO_0001363: testis CL_0000216: Sertoli cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access WYRWOLL et al. 2022, Andrology. Analysis of copy number variation in men with non-obstructive azoospermia TEKT5, SYCE1, MLH3,
EIF2B2, SLX4, CLPP,
CYP2E1, SCART1, EIF2B2,
CLUAP1, NLRC3		 Human Exome Whole Exome Sequencing BTO_0001363: testis CL_0000216: Sertoli cell
Link Open Access WYRWOLL et al. 2022, Andrology. Immunohistochemistry of TEKT5 in fetal and adult human and mouse testes TEKT5, SYCE1, MLH3,
EIF2B2, SLX4, CLPP,
CYP2E1, SCART1, EIF2B2,
CLUAP1, NLRC3		 Human Exome Array-based comparative genomic hybridisation BTO_0001363: testis
Link Open Access WYRWOLL et al. 2021, Human Reproduction. Detected biallelic variants in MSH4 and MSH5 MutS, MSH4, MSH5 Other Other Functional Study BTO_0000553: peripheral blood CL_0000738: leukocyte
Link Open Access WYRWOLL et al. 2021, Human Reproduction. MERGE Study MutS, MSH4, MSH5 Human Exome Whole Exome Sequencing BTO_0000553: peripheral blood
Link Open Access WYRWOLL et al. 2021, Human Reproduction. Consequences of Identified loss-of-function (LoF) variants in MSH5 MutS, MSH4, MSH5 Other Proteome Immunohistochemistry BTO_0001363: testis
Link Open Access MALL et al. 2021, Plos one. Heading towards a dead end: the role of DND1 in germ line differentiation of human iPSCs DND1, NANOS3, PRDM1 Human Transcriptome Bulk RNA-Sequencing BTO_0001363: testis,
BTO_0000089: blood		 CL_0002246: peripheral blood stem cell,
CL_0002371: somatic cell
Link Open Access CERVÁN-MARTÍN et al. 2022, Communications Biology. Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility HLA-DRB1, VRK1 Human Genome Genome-wide Association Study CL_0000216: Sertoli cell,
CL_0000081: blood cell
Link Open Access WALLMEIER et al. 2021, The American Journal of Human Genetics. Homozygous loss-of-function variants in TP73 found in seven individuals originating from five non-related families TP73, TP53, FOXJ1,
RFX2, TP63, NOTCH1		 Human Genome Genome-wide Association Study
Link Open Access DI-PERSIO et al. 2021, Cell Reports Medicine. Alterations of the spermatogonial compartment in cryptozoospermic men EGR4, UTF1, MAGEA4 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium
Link No Access WESTERICH et al. 2023, Human Reproduction. Male Reproductive Genomics cohort DND1 Human Exome Whole Exome Sequencing BTO_0001363: testis
Link No Access WESTERICH et al. 2023, Human Reproduction. The spectrum of rare DND1 variants in DND1 Human Exome Whole Exome Sequencing BTO_0001363: testis
Link No Access WESTERICH et al. 2023, Human Reproduction. Zebrafish germ cells expressing orthologues of patient-mirrored DND1 protein variants are less DND1 Other Proteome Microarray
Link No Access WESTERICH et al. 2023, Human Reproduction. The DNDS212P variant protein is expressed at a reduced level in the germline DND1 Other Proteome Immunohistochemistry BTO_0000379: embryo
Link No Access WESTERICH et al. 2023, Human Reproduction. Germ cells expressing the DND variant exhibit defects in fate maintenance DND1 Other Transcriptome Bulk RNA-Sequencing CL_0000670: primordial germ cell
Link No Access WESTERICH et al. 2023, Human Reproduction. Germ cells expressing the DND variant exhibit defects in cell migration DND1 Other Other Other BTO_0000379: embryo
Link Open Access OUD et al. 2022, Nature communications. Discovery of de novo mutations in infertile male trios RBM5, GREB1L, QSER1,
CSTF3, U2AF2, HNRNPL,
CDC5L, CWC27, TOPAZ1		 Other Exome Whole Exome Sequencing BTO_0001202: saliva,
BTO_0000089: blood
Link Open Access OUD et al. 2022, Nature communications. Intolerance analysis of genes with de novo loss-of-function mutations RBM5, GREB1L, QSER1,
CSTF3, U2AF2, HNRNPL,
CDC5L, CWC27, TOPAZ1		 Other Exome Whole Exome Sequencing
Link Open Access OUD et al. 2022, Nature communications. Rare predicted pathogenic mutations RBM5, GREB1L, QSER1,
CSTF3, U2AF2, HNRNPL,
CDC5L, CWC27, TOPAZ1		 Other Exome Other
Link Open Access WU et al. 2021, Human molecular genetics. scRNA-Seq data analysis recognize 10 germ cell types and 6 somatic cell types CTCF, BORIS, NFY,
DMRT6, EN1, ISL1,
GLI3		 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access WU et al. 2021, Human molecular genetics. Preliminary analysis of scATAC-Seq CTCF, BORIS, NFY,
DMRT6, EN1, ISL1,
GLI3		 Human Epigenome Single-cell ATAC Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access NIE et al. 2022, Developmental cell. Single-cell transcriptomes of testes of young and older men KIT Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis
Link Open Access NIE et al. 2022, Developmental cell. Analysis of aging in spermatogonia KIT Human Transcriptome Single-cell RNA-Sequencing CL_0000016: male germ line stem cell,
CL_0000020: spermatogonium,
CL_0000656: primary spermatocyte,
CL_0000656: primary spermatocyte,
CL_4030036: early spermatid,
CL_4030037: late spermatid,
CL_4030036: early spermatid
Link Open Access NIE et al. 2022, Developmental cell. Global alterations of the testicular somatic cells and somatic cell-germline interactions in the aging human testis KIT Human Transcriptome Single-cell RNA-Sequencing CL_0002371: somatic cell
Link Open Access NIE et al. 2022, Developmental cell. Sertoli cells display inflammation and metabolic dysregulation during aging KIT Human Transcriptome Single-cell RNA-Sequencing CL_0000216: Sertoli cell
Link Open Access NIE et al. 2022, Developmental cell. Leydig cells display dysregulation in signaling, testosterone and developmental identity KIT Human Transcriptome Single-cell RNA-Sequencing CL_0000178: Leydig cell
Link Open Access NIE et al. 2022, Developmental cell. Aging testicular peritubular cells show dysregulated cell death, matrisome, developmental pathways and contractility KIT Human Transcriptome Single-cell RNA-Sequencing CL_0002481: peritubular myoid cell
Link No Access EL OMRI-CHARAI et al. 2023, Development. DNA methylation dynamic - Rat Methylome Whole Genome Bisulfite Sequencing CL_0002238: male gonocyte,
CL_0000020: spermatogonium,
CL_0000018: spermatid,
CL_0000019: sperm
Link Open Access MATSUNARI et al. 2018, Proceedings of the National Academy of Sciences. Transmission of the Mutant Trait to Offspring OTC, IL2RG, DMD Pig Other Other
Link Open Access MATSUNARI et al. 2018, Proceedings of the National Academy of Sciences. Phenotypic Features of the Chimeric Pigs Carrying the Mutant Gene OTC, IL2RG, DMD Pig Other Other
Link Open Access MURAT et al. 2022, Nature. snRNA profiling across ten mammals and a bird TEX11, PI4KB, DMRT1,
IP6K1, RUBCNL, D1Pas1,
H2al2a		 Human, Chimpanzee, Bonobo, Gorilla, Gibbon, Rhesus Macaque, Marmoset, Mouse, Opossum, Platypus, Chicken Transcriptome Single-nucleus RNA Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0002371: somatic cell
Link Open Access MURAT et al. 2022, Nature. Rates of evolution along spermatogenesis and evolutionary forces TEX11, PI4KB, DMRT1,
IP6K1, RUBCNL, D1Pas1,
H2al2a		 Human, Chimpanzee, Bonobo, Gorilla, Gibbon, Rhesus Macaque, Marmoset, Mouse, Opossum, Platypus, Chicken Transcriptome Single-nucleus RNA Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0002371: somatic cell
Link Open Access MURAT et al. 2022, Nature. Evolution of gene expression trajectories along spermatogenesis TEX11, PI4KB, DMRT1,
IP6K1, RUBCNL, D1Pas1,
H2al2a		 Human, Chimpanzee, Bonobo, Gorilla, Gibbon, Rhesus Macaque, Marmoset, Mouse, Opossum, Platypus, Chicken Transcriptome Single-nucleus RNA Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access MURAT et al. 2022, Nature. Contribution of new genes to the evolution of new spermatogenic functions TEX11, PI4KB, DMRT1,
IP6K1, RUBCNL, D1Pas1,
H2al2a		 Human, Chimpanzee, Bonobo, Gorilla, Gibbon, Rhesus Macaque, Marmoset, Mouse, Opossum, Platypus, Chicken Transcriptome Single-nucleus RNA Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access MURAT et al. 2022, Nature. Mammalian sex-chromosome evolution. TEX11, PI4KB, DMRT1,
IP6K1, RUBCNL, D1Pas1,
H2al2a		 Human, Rhesus Macaque, Mouse, Opossum, Platypus Transcriptome Single-nucleus RNA Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0002371: somatic cell
Link Open Access GAYSINSKAYA et al. 2018, Epigenetics & chromatin. Genome‑wide DNA methylation levels in different cell stages - Mouse Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000018: spermatid,
Link Open Access GARCIA-ALONSO et al. 2022, Nature. Human–mouse single-cell atlases of gonadal and extragonadal tissue SRY Human, Mouse Multiome Other BTO_0001363: testis,
BTO_0000975: ovary
Link Open Access GARCIA-ALONSO et al. 2022, Nature. TFs modulating germ cell differentiation SRY Human, Mouse Multiome Other BTO_0000975: ovary,
BTO_0001363: testis		 CL_0000586: germ cell
Link Open Access GARCIA-ALONSO et al. 2022, Nature. New gonadal somatic cells during sex determination SRY Human, Mouse Multiome Other BTO_0001363: testis,
BTO_0000975: ovary		 PLANA_0002096: somatic gonadal cell,
CL_0000501: granulosa cell,
CL_0000216: Sertoli cell
Link Open Access GARCIA-ALONSO et al. 2022, Nature. Supporting-like PAX8+ (sPAX8) gonadal lineage forms the rete testis SRY Human Other smFISH BTO_0001363: testis,
BTO_0000975: ovary
Link Open Access GARCIA-ALONSO et al. 2022, Nature. Transcriptional, spatiotemporal and paracrine signatures of human pregranulosa cells SRY Human, Mouse, Cynomolgus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0000975: ovary CL_0000501: granulosa cell
Link Open Access SERRANO et al. 2023, Clinical epigenetics. Bisulfite conversion and RRBS Tal2 Mouse Methylome Reduced-Representation Bisulfite Sequencing BTO_0000408: epididymis ,
,
,
,
,
Link Open Access SERRANO et al. 2023, Clinical epigenetics. Quantitative Bisulfite Sanger sequencing PCR Tal2 Mouse Transcriptome High-resolution bisulfite Sanger PCR ,
,
,
,
,
Link Open Access SERRANO et al. 2023, Clinical epigenetics. Gene expression analysis Tal2 Mouse Transcriptome RT-qPCR BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis,
BTO_0000975: ovary,
BTO_0000975: ovary,
BTO_0000975: ovary,
BTO_0000975: ovary,
BTO_0000671: kidney,
BTO_0000671: kidney,
BTO_0000671: kidney,
BTO_0000671: kidney
Link Open Access POTABATTULA et al. 2020, Aging cell. Male aging effects on sperm repetitive DNA methylation - Human Methylome Bisulfite Pyrosequencing CL_0000019: sperm
Link Open Access POTABATTULA et al. 2020, Aging cell. Sequence- and age-dependent rDNA methylation and epimutation rates - Human Methylome Deep Bisulfite Sequencing CL_0000019: sperm,
CL_0000019: sperm
Link Open Access POTABATTULA et al. 2020, Aging cell. rDNA methylation in cord blood - Human Methylome Bisulfite Pyrosequencing BTO_0004053: umbilical cord blood,
BTO_0004053: umbilical cord blood		 UBERON_0012168: umbilical cord blood,
UBERON_0012168: umbilical cord blood
Link Open Access POTABATTULA et al. 2020, Aging cell. rDNA methylation peripheral blood - Human Methylome Bisulfite Pyrosequencing BTO_0000553: peripheral blood,
BTO_0000553: peripheral blood		 CL_0000081: blood cell,
CL_0000081: blood cell
Link Open Access POTABATTULA et al. 2020, Aging cell. Sperm rDNA clock - Human Methylome Bisulfite Pyrosequencing CL_0000019: sperm,
CL_0000019: sperm
Link Open Access POTABATTULA et al. 2020, Aging cell. Evolutionary conservation of age-related sperm rDNA methylation - Mouse, Bovine, Marmoset, Human Methylome Bisulfite Pyrosequencing CL_0000019: sperm,
CL_0000019: sperm,
CL_0000019: sperm,
CL_0000019: sperm
Link Open Access LAIHO et al. 2013, PloS one. Genome‑wide DNA methylation levels in different cell stages - Mouse Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000018: spermatid,
Link Open Access RAJACHANDRAN et al. 2023, Cell reports. A spatially resolved LR interaction map of the mouse testis KIT Mouse Transcriptome Slide-seq BTO_0001363: testis CL_4030037: late spermatid,
CL_4030036: early spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000115: endothelial cell,
CL_0000178: Leydig cell,
CL_0000216: Sertoli cell
Link Open Access RAJACHANDRAN et al. 2023, Cell reports. PTN-mediated signaling regulates the functions of mouse SSCs KIT Mouse Other Immunohistochemistry BTO_0001363: testis CL_0000020: spermatogonium,
PLANA_0000219: spermatogonial stem cell
Link Open Access RAJACHANDRAN et al. 2023, Cell reports. Global cell-cell communications in the mouse testis KIT Mouse Transcriptome Slide-seq BTO_0001363: testis CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
,
CL_0000178: Leydig cell,
CL_0000216: Sertoli cell
Link Open Access RAJACHANDRAN et al. 2023, Cell reports. A spatially resolved LR interaction map of the human testis KIT Human Transcriptome Slide-seq BTO_0001363: testis CL_4030037: late spermatid,
CL_4030036: early spermatid,
CL_0002481: peritubular myoid cell,
CL_0000235: macrophage,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000115: endothelial cell,
CL_0000178: Leydig cell,
CL_0000216: Sertoli cell
Link Open Access LAU et al. 2020, Developmental Cell. scRNA-seq establishes germ and somatic cell types sesiding within the cynomolgus testis DNMT3L, UTF1, PIWIL4,
SOHLH1, EGR4, FGFR3,
UCHL1, DMRT1, NFYB/C,
NfyB/C, YY1, CTCFL,
REL, TBX1, BACH1		 Cynomolgus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis
Link Open Access LAU et al. 2020, Developmental Cell. Spermatogonial differentiation DNMT3L, UTF1, PIWIL4,
SOHLH1, EGR4, FGFR3,
UCHL1, DMRT1, NFYB/C,
NfyB/C, YY1, CTCFL,
REL, TBX1, BACH1		 Cynomolgus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis
Link Open Access LAU et al. 2020, Developmental Cell. Integrated Analysis of Spermatogenesis in Three Eutherian Mammals DNMT3L, UTF1, PIWIL4,
SOHLH1, EGR4, FGFR3,
UCHL1, DMRT1, NFYB/C,
NfyB/C, YY1, CTCFL,
REL, TBX1, BACH1		 Cynomolgus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis
Link Open Access LAU et al. 2020, Developmental Cell. Transcription factor activity during spermatogenesis DNMT3L, UTF1, PIWIL4,
SOHLH1, EGR4, FGFR3,
UCHL1, DMRT1, NFYB/C,
NfyB/C, YY1, CTCFL,
REL, TBX1, BACH1		 Cynomolgus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis
Link Open Access SINGH et al. 2023, International Journal of Molecular Sciences. Single-cell transcriptomics in prepubertal human, baboon, and macaque testes MAP2K2, RAC3, PAK4,
TOLLIP, SH2B2		 Human, Baboon, Rhesus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis
Link Open Access SINGH et al. 2023, International Journal of Molecular Sciences. Cross-species comparison of spermatogonia MAP2K2, RAC3, PAK4,
TOLLIP, SH2B2		 Human, Baboon, Rhesus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis		 CL_0000016: male germ line stem cell,
CL_0000586: germ cell,
CL_0000586: germ cell
Link Open Access SINGH et al. 2023, International Journal of Molecular Sciences. Pathways analyses reveal unique biological pathways among conserved primate SSC MAP2K2, RAC3, PAK4,
TOLLIP, SH2B2		 Human, Baboon, Rhesus Macaque Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis		 CL_0000016: male germ line stem cell,
CL_0000016: male germ line stem cell,
CL_0000016: male germ line stem cell
Link Open Access PLUTA et al. 2023, Nature communications. Novel independent TGCT susceptibility loci KITLG Human Genome Genotyping
Link Open Access SHEN et al. 2018, Cell reports. Molecular alterations and features across 137 TGCT samples KIT, KRAS, NRAS,
PIK3CA		 Human Exome Whole Exome Sequencing BTO_0001363: testis CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell,
CL_0000586: germ cell
Link Open Access SHEN et al. 2018, Cell reports. DNA methylation differences between TGCT histology types KIT, KRAS, NRAS,
PIK3CA		 Human Methylome Bisulfite Genomic Sequencing BTO_0001363: testis CL_0000670: primordial germ cell,
CL_0000542: lymphocyte
Link Open Access SHEN et al. 2018, Cell reports. Immune signatures are high in seminomas KIT, KRAS, NRAS,
PIK3CA		 Human Transcriptome RNA-Sequencing BTO_0001363: testis CL_0000236: B cell,
CL_0000084: T cell,
CL_0000623: natural killer cell,
CL_0000235: macrophage
Link Open Access CHEN et al. 2021, Cell reports. A spatial transcriptome atlas for mouse spermatogenesis Smcp, Lyar, Tnp1,
H3f3b, Hils1, H2bl1,
H1fnt, Tnp1, Tnp2,
Prm1, Prm2, Tssk6,
Habp4		 Mouse Transcriptome Slide-seq BTO_0001363: testis CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000115: endothelial cell,
CL_0000216: Sertoli cell,
CL_0000235: macrophage,
CL_0000178: Leydig cell,
CL_0002481: peritubular myoid cell
Link Open Access CHEN et al. 2021, Cell reports. Stage-dependent gene expression patterns in Leydig cells and macrophages Smcp, Lyar, Tnp1,
H3f3b, Hils1, H2bl1,
H1fnt, Tnp1, Tnp2,
Prm1, Prm2, Tssk6,
Habp4		 Mouse Transcriptome Slide-seq BTO_0001363: testis CL_0000178: Leydig cell,
CL_0000235: macrophage
Link Open Access CHEN et al. 2021, Cell reports. Differential stem cell microenvironment in mouse versus human testes Smcp, Lyar, Tnp1,
H3f3b, Hils1, H2bl1,
H1fnt, Tnp1, Tnp2,
Prm1, Prm2, Tssk6,
Habp4		 Human, Mouse Transcriptome Slide-seq BTO_0001363: testis,
BTO_0001363: testis		 CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000115: endothelial cell,
CL_0000216: Sertoli cell,
CL_0000235: macrophage,
CL_0000178: Leydig cell,
CL_0002481: peritubular myoid cell
Link Open Access CHEN et al. 2021, Cell reports. Diabetes induces testicular injuries by disrupting the spatial structures of seminiferous tubules Smcp, Lyar, Tnp1,
H3f3b, Hils1, H2bl1,
H1fnt, Tnp1, Tnp2,
Prm1, Prm2, Tssk6,
Habp4		 Mouse Transcriptome Slide-seq BTO_0001363: testis,
BTO_0001363: testis		 CL_0000018: spermatid,
CL_0000018: spermatid,
CL_0002481: peritubular myoid cell,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0000115: endothelial cell,
CL_0000235: macrophage
Link Open Access GUO et al. 2020, Cell stem cell. Single-cell transcriptome profiling of the human juvenile testis SOX9 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000586: germ cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0002481: peritubular myoid cell,
CL_0000235: macrophage,
CL_0000115: endothelial cell,
CL_0000192: smooth muscle cell
Link Open Access GUO et al. 2020, Cell stem cell. Single-cell profiling of testes from T-suppressed transfemales SOX9 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis		 CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000192: smooth muscle cell,
CL_0000235: macrophage,
CL_0002481: peritubular myoid cell,
CL_0000115: endothelial cell,
CL_0000178: Leydig cell,
CL_0000216: Sertoli cell,
CL_0000910: cytotoxic T cell
Link Open Access GUO et al. 2020, Cell stem cell. Testosterone promotes Sertoli and germ cell development in vivo SOX9 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis,
BTO_0001363: testis		 CL_0000910: cytotoxic T cell,
CL_0000235: macrophage,
CL_0000115: endothelial cell,
CL_0000216: Sertoli cell,
CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0002481: peritubular myoid cell,
CL_0000178: Leydig cell,
CL_0000192: smooth muscle cell
Link Open Access LAMBROT et al. 2021, Cell Reports. H3K4me3 is enriched at CpG-rich regions, promoters, and SINEs in human sperm FOXO1 Human Other Chromatin Immunopreciptation Sequencing BTO_0001363: testis CL_0000018: spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium,
CL_0000016: male germ line stem cell
Link Open Access LAMBROT et al. 2021, Cell Reports. H3K4me3 and DNA methylation co-occur at functional genomic regions in human sperm FOXO1 Human Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis CL_0000016: male germ line stem cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access LAMBROT et al. 2021, Cell Reports. The functional relationship of sperm H3K4me3 and DNA methylation in gene regulation during spermatogenesis and embryogenesis FOXO1 Human Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis CL_0000016: male germ line stem cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access LAMBROT et al. 2021, Cell Reports. H3K4me3 in sperm localizes to enhancers and regions escaping epigenetic reprogramming FOXO1 Human Other Chromatin Immunopreciptation Sequencing BTO_0001363: testis CL_0000016: male germ line stem cell,
CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access DENOMME et al. 2020, Aging Cell. Sperm methylomes CACNA1H, CNTNAP2, GRIN1,
SHANK2, SHANK3, PRKCZ,
ZNF804A, TCF3, COMT,
DRD4, MBP, TRPM2,
DLGAP2, KCNQ1		 Human Methylome Reduced-Representation Bisulfite Sequencing BTO_0001363: testis CL_0000019: sperm
Link Open Access DENOMME et al. 2020, Aging Cell. Blastocyst methylomes CACNA1H, CNTNAP2, GRIN1,
SHANK2, SHANK3, PRKCZ,
ZNF804A, TCF3, COMT,
DRD4, MBP, TRPM2,
DLGAP2, KCNQ1		 Human Methylome Whole Genome Bisulfite Sequencing BTO_0001424: uterus UBERON_0000358: blastocyst
Link Open Access DENOMME et al. 2020, Aging Cell. Targeted bisulfite pyrosequencing for methylation validation CACNA1H, CNTNAP2, GRIN1,
SHANK2, SHANK3, PRKCZ,
ZNF804A, TCF3, COMT,
DRD4, MBP, TRPM2,
DLGAP2, KCNQ1		 Human Methylome Targeted Bisulfite Pyrosequencing BTO_0001363: testis,
BTO_0001424: uterus		 CL_0000019: sperm,
UBERON_0000358: blastocyst
Link Open Access DURA et al. 2022, Nature genetics. DNMT3A broadly methylates the genome in fetal male germ cells DNMT3A Mouse Methylome Whole Genome Bisulfite Sequencing BTO_0001363: testis CL_0002238: gonocyte
Link Open Access DURA et al. 2022, Nature genetics. SSCs cannot exit the stem cell state without DNMT3A-dependent DNA methylation DNMT3A Mouse Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000586: germ cell,
CL_0000020: spermatogonium,
CL_0000016: male germ line stem cell
Link Open Access DURA et al. 2022, Nature genetics. DNA methylation regulates SSC plasticity by limiting enhancer activity DNMT3A Mouse Transcriptome Bulk RNA-Sequencing BTO_0001363: testis CL_0000016: male germ line stem cell
Link Open Access CASTILLO et al. 2023, Life Science Alliance. Transcriptional characterisation of PGC specification in embryoid bodies TFAP2A Human Transcriptome Single-cell RNA-Sequencing UBERON_0014374: embryoid body CL_0000670: primordial germ cell,
CL_0002248: pluripotent stem cell
Link Open Access CASTILLO et al. 2023, Life Science Alliance. Detection of PGC-competent population TFAP2A Human Transcriptome Single-cell RNA-Sequencing UBERON_0014374: embryoid body CL_0002248: pluripotent stem cell,
CL_0000670: primordial germ cell
Link Open Access CASTILLO et al. 2023, Life Science Alliance. Specification of PGCLCs in EBs represents a primitive streak-like stage TFAP2A Other Transcriptome Spatial Transcriptomics BTO_0000379: embryo CL_0000670: primordial germ cell
Link Open Access CASTILLO et al. 2023, Life Science Alliance. TFAP2A is a regulator of PGCLC fate TFAP2A Human Transcriptome Single-cell RNA-Sequencing UBERON_0014374: embryoid body CL_0002248: pluripotent stem cell
Link Open Access WANG et al. 2020, Nature. Regulation across expression layers investigated by translatome and transcriptome analysis Ppp3r2 Human, Rhesus Macaque, Mouse, Opossum, Platypus, Chicken Translatome Ribosome profiling BTO_0001363: testis,
BTO_0000142: brain,
BTO_0000759: liver		 CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000019: sperm
Link Open Access WANG et al. 2020, Nature. Co-evolution of expression layers investigated by translatome and transcriptome analysis Ppp3r2 Human, Rhesus Macaque, Mouse, Opossum, Platypus, Chicken Transcriptome RNA-Sequencing BTO_0001363: testis,
BTO_0000142: brain,
BTO_0001363: liver
Link Open Access WANG et al. 2020, Nature. Compensatory evolution of X-linked genes across the translatome, transcriptome and proteome layers Ppp3r2 Human, Rhesus Macaque, Mouse, Opossum, Platypus, Chicken Transcriptome RNA-Sequencing BTO_0001363: testis,
BTO_0000142: brain,
BTO_0001363: liver
Link Open Access SIEPER et al. 2023, Andrology. RNA expression profiles of TEX genes TEX Human Transcriptome Single-cell RNA-Sequencing HP:0000027: Azoospermia,
HP:0030974: Cryptozoospermia,
HP:0012864: Abnormal sperm morphology,
HP:0012207: Reduced sperm motility		 BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis
Link Open Access SIEPER et al. 2023, Andrology. Fertility assessment of human TEX gene orthologs using Drosophila model organism TEX Drosophila Melanogaster Other Immunofluorescence BTO_0001363: testis
Link Open Access CAPPONI et al. 2023, Development. Classification of the spermatogonial compartments and proliferative activity of undiff-SPG in the cynomolgus monkey testis KIT Cynomolgus Macaque Other Immunostaining BTO_0001363: testis CL_0000020: spermatogonium
Link Open Access CAPPONI et al. 2023, Development. Kinetics of the diff-SPG in cynomolgus monkey KIT Cynomolgus Macaque Other Immunostaining BTO_0001363: testis CL_0000020: spermatogonium
Link Open Access CAPPONI et al. 2023, Development. Comparative analysis in human spermatogonial compartment KIT Human Other Immunostaining BTO_0001363: testis CL_0000020: spermatogonium
Link No Access DICKE et al. 2023, Human Reproduction. Identification of novel high-impact homozygous variants in INSL3 and RXFP2 in infertile men with bilateral cryptorchidism INSL3, RXFP2 Human Genome Genotyping BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte
Link No Access HIORT et al. 2023, Sexual Development. Testicular tissue composition of patients with 46,XX TDSD, NS, KS and AZF deletions SRY, SOX9 Human Other Immunohistochemical staining BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis		 CL_0000586: male germ cell,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell
Link Open Access GREITHER et al. 2020, Cytogenetic and Genome Research. Binary logistic regression analyses to evaluate the potential of genes as markers for male fertility impairment AKAP4, TNP1, DAZL,
BRDT, DMRT1, SPO11,
ZPBP, HORMAD1, SMC1B		 Human, Mouse Other Other BTO_0001363: testis,
BTO_0001363: testis		 CL_0000019: sperm,
CL_0000019: sperm
Link Open Access GREITHER et al. 2022, International Journal of Molecular Sciences. Whole exome sequencing identifying single-nucleotide polymorphisms (SNPs) in 100 infertile and normal-fertile men ANAPC1, CES1, FAM131C,
HLA-DRB1, KMT2C, NOMO1,
SAA1, SRGAP2, SUSD2		 Human Exome Whole Exome Sequencing BTO_0000089: blood,
BTO_0000089: blood
Link Open Access GREITHER et al. 2023, Andrology. Examination of proteomic profiles of spermatozoa from infertile men using mass spectrometry analysis C2orf16, CYLC1, SPATA31E1,
SPATA31D1, SPATA48, EFHB (CFAP21),
and FAM161A		 Human Proteome Mass Spectrometry Analysis BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis,
BTO_0001363: testis		 CL_0000019: sperm
Link Open Access NAGIRNAJA et al. 2022, Nature communications. Variant prioritization and burden testing in NOA cases MAGEA3 Human Exome Whole Exome Sequencing HP:0011961: Non-obstructive azoospermia BTO_0001363: testis
Link Open Access NAGIRNAJA et al. 2022, Nature communications. Characteristics of NOA genes in the context of male infertility and the broader Mendelian disease landscape MAGEA3 Human Exome Whole Exome Sequencing BTO_0001363: testis
Link Open Access NAGIRNAJA et al. 2022, Nature communications. Integrative analysis with testis scRNAseq reveals ‘molecular subforms’ of NOA MAGEA3 Human Transcriptome Single-cell RNA-Sequencing BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000216: Sertoli cell,
CL_0000178: Leydig cell,
CL_0000115: endothelial cell,
CL_0000235: macrophage,
CL_0000236: B cell,
CL_0000084: T cell,
CL_0000763: myeloid cell
Link Open Access NAGIRNAJA et al. 2022, Nature communications. Disruption of piRNA biogenesis causes spermatogenic failure in men MAGEA3 Human Other Other BTO_0001363: testis
Link No Access RIERA-ESCAMILLA et al. 2022, The American Journal of Human Genetics. Identification of recurrently mutated genes associated with spermatogenic failure RBBP7 Human Exome Exome Sequencing HP:0011961: Non-obstructive azoospermia,
HP:0030974: Cryptozoospermia		 BTO_0001363: testis
Link No Access WYRWOLL et al. 2022, European urology. Identification of the underlying genetic cause of crypto-/ azoospermia via Whole Exome Sequencing CFTR, ADGRG2 Human Exome Whole Exome Sequencing HP:0030974: Cryptozoospermia,
HP:0000027: Azoospermia		 BTO_0001363: testis CL_0000017: spermatocyte,
CL_0000018: spermatid,
CL_0000020: spermatogonium
Link Open Access SIEBERT-KUSS et al. 2024, The American Journal of Human Genetics. Whole-genome methylation sequencing of human germ cells from normal spermatogenesis DMRT1, SOX6 Human Methylome EM-seq BTO_0001363: testis CL_0000018: spermatid,
CL_0000019: sperm
Link Open Access SIEBERT-KUSS et al. 2024, The American Journal of Human Genetics. Whole-genome methylation sequencing of human germ cells from cryptozoospermic individuals DMRT1, SOX6 Human Methylome EM-seq BTO_0001363: testis CL_0000020: spermatogonium,
CL_0000017: spermatocyte
Link Open Access STALLMEYER et al. 2024, Nature Communications. Genetic variants in the piRNA pathway in the MERGE cohort PIWIL1, GTSF1, GPAT2,
MAEL, TDRD1, DDX4		 Human Exome Exome Sequencing HP:0000027: Azoospermia,
HP:0030974: Cryptozoospermia,
HP:0034815: Extreme oligozoospermia,
HP:0034818: Severe oligozoospermia		 BTO_0000553: peripheral blood,
BTO_0001363: testis		 CL_0000020: spermatogonium,
CL_0000017: spermatocyte,
CL_0000018: spermatid
Link Open Access STALLMEYER et al. 2024, Nature Communications. Genetic variants in the piRNA pathway in the MERGE cohort (Part 2) PIWIL1, GTSF1, GPAT2,
MAEL, TDRD1, DDX4		 Human Genome Whole Genome Sequencing BTO_0001363: testis
Link Open Access STALLMEYER et al. 2024, Nature Communications. Genetic variants in the piRNA pathway in the Strasbourg cohort PIWIL1, GTSF1, GPAT2,
MAEL, TDRD1, DDX4		 Human Exome Exome Sequencing HP:0011961: Non-obstructive azoospermia
Link Open Access STALLMEYER et al. 2024, Nature Communications. Genetic variants in the piRNA pathway in the Barcelona cohort PIWIL1, GTSF1, GPAT2,
MAEL, TDRD1, DDX4		 Human Exome Exome Sequencing HP:0011961: Non-obstructive azoospermia
Link Open Access STALLMEYER et al. 2024, Nature Communications. Genetic variants in the piRNA pathway in the Nijmegen/Newcastle cohort PIWIL1, GTSF1, GPAT2,
MAEL, TDRD1, DDX4		 Human Exome Exome Sequencing HP:0000027: Azoospermia,
HP:0030974: Cryptozoospermia
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. RNA-sequencing of human testis with full spermatogenesis (CTR), spermatogonial arrest (SPG), spermatocyte arrest (SPC), round spermatid arrest (SPD), and Sertoli cell-only phenotype (SCO) NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome RNA-Sequencing HP:0034299: Sertoli cell-only phenotype,
HP:4000187: Spermatogonial maturation arrest,
HP:0031039: Early spermatogenesis maturation arrest,
HP:0031040: Round spermatid arrest,
HP:control		 BTO_0001363: testis CL_4030036: early spermatid,
CL_4030037: late spermatid,
CL_0000017: spermatocyte,
CL_0000020: spermatogonium
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. Differentially expressed genes (DEGs) between SCO and SPG NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Single-cell RNA-Sequencing
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. DEGs between SPG and SPC NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Single-cell RNA-Sequencing
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. DEGs between SPC and SPD NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Single-cell RNA-Sequencing
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. DEGs between SPD and CTR NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Single-cell RNA-Sequencing
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. Top 120 DEGs with absent or low expression in scRNA-seq datasets or different germ cell specificity NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Single-cell RNA-Sequencing
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. List of differential transcript usage (DTU) genes getween SCO and SPG NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Other
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. List of DTU genes between SPG and SPC NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Other
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. List of DTU genes between SPC and SPD NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Other
Link Open Access SIEBERT-KUSS et al. 2022, Life Science Alliance. List of DTU genes between SPD and CTR NR5A1, LUZP4, TSPY4,
ANHX, PRAP1, FTHL17,
SYNGR4, PRR30, ACTL7A,
HMGB4, TP53TG5, OXCT2,
HEMGN, SOX15, SPATA4,
SYCP3, MKI67, RWDD2A,
CCDC183, CNNM1, SERF1B		 Human Transcriptome Other
Link Open Access SHOMRONI et al. 2022, Scientific Reports. Cell cultures of eight primary dermal fibroblasts DAXX, MRPL34, MT-CO1,
MT-ND4, MT-ND5, MT-CYB		 Human Transcriptome Single-cell RNA-Sequencing BTO_0004419: dermal fibroblast
Link Open Access YOUNG et al. 2024, The Journal of Clinical Investigation. The CatSper-Activity-Test identifies patients with defective CatSper function CATSPER2, STRCG Human Other Functional Study HP:0000407: Sensorineural hearing impairment,
HP:other: Other,
HP:other: Other		 BTO_0001230: semen CL_0000019: sperm
Link Open Access YOUNG et al. 2024, The Journal of Clinical Investigation. Deletion of CATSPER2 in patient C9 CATSPER2, STRCG Human Exome Whole Exome Sequencing BTO_0000553: peripheral blood
Link Open Access SCHNEIDER et al. 2023, eLife. Cylicins are indispensable for male fertility in mice Cylc1, CYLC1, Cylc2,
CYLC2		 Mouse Genome Genotyping BTO_0001363: testis CL_0000018: spermatid
Link Open Access SCHNEIDER et al. 2023, eLife. Sperm morphology is severely altered in Cylicin-deficient mice Cylc1, CYLC1, Cylc2,
CYLC2		 Mouse Proteome Immunofluorescence BTO_0001230: semen CL_0000019: sperm
Link Open Access SCHNEIDER et al. 2023, eLife. Cylicins are required for normal sperm morphology in human Cylc1, CYLC1, Cylc2,
CYLC2		 Human Exome Whole Exome Sequencing BTO_0000553: peripheral blood CL_0000542: lymphocyte
Link Open Access SCHNEIDER et al. 2023, eLife. Cylicins are required for normal sperm morphology in human Part 2 Cylc1, CYLC1, Cylc2,
CYLC2		 Human Proteome Immunofluorescence BTO_0001230: semen CL_0000019: sperm
Link Open Access SCHNEIDER et al. 2023, eLife. Cylc2-/- sperm cells have altered flagellar beat Cylc1, CYLC1, Cylc2,
CYLC2		 Mouse Other Transmission electron microscopy BTO_0001230: semen CL_0000019: sperm
Link Open Access Rgv Link GRAF et al. 2022, Nature Communications. Single cell RNA-seq data for Atypical Teratoid Rhabdoid Tumor (ATRT) - activated sonic hedgehog signaling (SHH) and ATRT-MYC oncogene-driven (MYC) samples Smarcb1, Nestin, Olig1,
Ki67, CD3, CD45,
Hepar, Inhibin, Myc,
Sox2, Sox9, Sox21,
Fabp7, Bmp4, Hox8,
Dppa3, Ifitm3, Psmb8,
Psme1, Isg15, Igtp,
Ccnb1, Ccna2, Pou5f1,
Lefty1, Dnd1, Ifitm1,
Gjb3, Kdm5a, Prmt1,
Suv39h1, Filga, Stra8,
Dnmt3a, Dnmt1, Ezh2		 Human, Mouse Transcriptome Single-cell RNA-Sequencing HP:0034557: Rhabdoid tumor
Link Open Access Rgv Link GRAF et al. 2022, Nature Communications. ScRNAseq data for Extracranial tumors (eRT) and MYC tumors from the spinal canal (MYC spinal) samples Smarcb1, Nestin, Olig1,
Ki67, CD3, CD45,
Hepar, Inhibin, Myc,
Sox2, Sox9, Sox21,
Fabp7, Bmp4, Hox8,
Dppa3, Ifitm3, Psmb8,
Psme1, Isg15, Igtp,
Ccnb1, Ccna2, Pou5f1,
Lefty1, Dnd1, Ifitm1,
Gjb3, Kdm5a, Prmt1,
Suv39h1, Filga, Stra8,
Dnmt3a, Dnmt1, Ezh2		 Human, Mouse Transcriptome Single-cell RNA-Sequencing
Link Open Access Rgv Link GRAF et al. 2022, Nature Communications. Gene expression array data of the tumors derived from the Sox2-cre, Sox2-creERT2 and Rosa26-creERT2 Smarcb1 knockout models generating SHH and MYC RT Smarcb1, Nestin, Olig1,
Ki67, CD3, CD45,
Hepar, Inhibin, Myc,
Sox2, Sox9, Sox21,
Fabp7, Bmp4, Hox8,
Dppa3, Ifitm3, Psmb8,
Psme1, Isg15, Igtp,
Ccnb1, Ccna2, Pou5f1,
Lefty1, Dnd1, Ifitm1,
Gjb3, Kdm5a, Prmt1,
Suv39h1, Filga, Stra8,
Dnmt3a, Dnmt1, Ezh2		 Human, Mouse Transcriptome Single-cell RNA-Sequencing
Link Open Access Rgv Link GRAF et al. 2022, Nature Communications. Bulk RNA-seq data of tumors derived from the DPPA3-cre::Smarcb1Fl/+ mice Smarcb1, Nestin, Olig1,
Ki67, CD3, CD45,
Hepar, Inhibin, Myc,
Sox2, Sox9, Sox21,
Fabp7, Bmp4, Hox8,
Dppa3, Ifitm3, Psmb8,
Psme1, Isg15, Igtp,
Ccnb1, Ccna2, Pou5f1,
Lefty1, Dnd1, Ifitm1,
Gjb3, Kdm5a, Prmt1,
Suv39h1, Filga, Stra8,
Dnmt3a, Dnmt1, Ezh2		 Human, Mouse Transcriptome Bulk RNA-Sequencing
Link Open Access KENTISTOU et al. 2024, Nature Genetics. Genetic Complexity of Pubertal Timing in Women ZNF483, GPR83, MC3R Human Genome Other
Link Open Access Rgv Link CHEN et al. 2024, Cell Stem Cell. scRNA-seq of EDG7.5, EDG9.5, Reactivated, E4.5 and E5.5 embryos Illumina - Mouse Transcriptome Single-cell RNA-Sequencing
Link Open Access Rgv Link CHEN et al. 2024, Cell Stem Cell. RNA-seq analysis of wildtype, Taz knockout, and Yap/Taz double knockout ESCs - Mouse Transcriptome RNA-Sequencing

Legal notice| Disclaimer| Dataprivacy