|
Aston et al. |
Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia |
Genome-wide Association Study |
|
02.01.2013 |
|
|
|
|
Aston et al. |
Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent |
Targeted Genotyping |
|
08.04.2010 |
|
|
|
|
Dalgaard et al. |
A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation |
Genome-wide Association Study, Targeted Genotyping, Other |
BMP7 , KITLG , TGFBR3 |
03.12.2011 |
|
|
|
|
Hu et al. |
Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men |
Genome-wide Association Study, Targeted Genotyping |
CDC42BPA , MIR133B-IL17A , HLA-DRA ABLIM1 , RGS9 , TMEM132E-CCT6B |
23.05.2014 |
|
|
|
|
Kosova et al. |
Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans |
Genome-wide Association Study, Targeted Genotyping |
USP8 , UBD , EPSTI1 LRRC32 |
08.06.2012 |
|
|
|
|
Sato et al. |
Replication Study and Meta-Analysis of Human Nonobstructive Azoospermia in Japanese Populations |
Targeted Genotyping |
|
27.02.2013 |
|
|
|
|
Zhao et al. |
A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia |
Genome-wide Association Study, Targeted Genotyping |
HLA-DRA , C6orf10 , BTNL2 |
04.05.2012 |
|
|
|
|
Irie et al. |
SOX17 Is a Critical Specifier of Human Primordial Germ Cell Fate |
Single-cell RNA-Sequencing |
SOX17 , BLIMP1 |
15.01.2015 |
|
|
|
|
Gkountela et al. |
DNA Demethylation Dynamics in the Human Prenatal Germline |
Bulk RNA-Sequencing, Whole Genome Bisulfite Sequencing |
|
04.06.2015 |
|
|
|
|
Guo et al. |
The adult human testis transcriptional cell atlas |
Single-cell RNA-Sequencing |
|
12.10.2018 |
|
|
|
|
Sugawa et al. |
Human primordial germ cell commitment in vitroassociates with a unique PRDM14 expression profile |
Microarray, Targeted Deep Bisulfite Sequencing |
PRDM14 |
06.03.2015 |
|
|
|
|
Sasaki et al. |
Robust In Vitro Induction of Human Germ Cell Fate from Pluripotent Stem Cells |
Bulk RNA-Sequencing, Other |
BLIMP1 |
06.08.2015 |
|
|
|
|
Omran et al. |
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins |
Functional Study |
Ktu , PF13 |
04.12.2008 |
|
|
|
|
Olbrich et al. |
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry |
Functional Study |
HYDIN |
27.09.2012 |
|
|
|
|
Paff et al. |
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
Functional Study |
PIH1D3 |
29.12.2016 |
|
|
|
|
Höben et al. |
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms |
Functional Study |
C11orf70 |
03.05.2018 |
|
|
|
|
Ta-shma et al. |
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility |
Functional Study |
MNS1 , DNAH5 |
27.08.2018 |
|
|
|
|
Ben et al. |
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella |
Functional Study |
DNAH1 |
19.12.2013 |
|
|
|
|
Tang et al. |
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella |
Functional Study |
CFAP43 , CFAP44 |
25.05.2017 |
|
|
|
|
Martinez et al. |
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella |
Whole Exome Sequencing |
FSIP2 , AKAP4 , DNAH1 CFAP43 , CFAP44 |
13.08.2018 |
|
|
|
|
Wang et al. |
In-depth proteomic analysis of the human sperm reveals complex protein compositions |
Other |
|
23.12.2012 |
|
|
|
|
Amaral et al. |
Identification of Proteins Involved in Human Sperm Motility Using High-Throughput Differential Proteomics |
Other |
|
24.09.2014 |
|
|
|
|
Mbango et al. |
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum |
Functional Study |
DNAH1 , CFAP43 , CFAP44 CFAP69 , FSIP2 , WDR66 (CFAP251) AK7 |
04.03.2019 |
|
|
|
|
Zimmermann et al. |
Research Resource: The Dynamic Transcriptional Profile of Sertoli Cells During the Progression of Spermatogenesis |
Single-cell RNA-Sequencing |
|
01.04.2015 |
|
|
|
|
Mitsunaga et al. |
Relevance of iPSC-derived human PGC-like cells at the surface of embryoid bodies to prechemotaxis migrating PGCs |
Bulk RNA-Sequencing |
PRDM1 , TFAP2C |
30.10.2017 |
|
|
|
|
Wang et al. |
Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis |
Single-cell RNA-Sequencing, Other |
HMGA1 , PIWIL4 , TEX29 SCML1 , CCDC112 |
30.08.2018 |
|
|
|
|
Hammoud et al. |
Transcription and imprinting dynamics in developing postnatal male germline stem cells |
Bulk RNA-Sequencing, Whole Genome Bisulfite Sequencing |
THY1 , KIT , OCT4 ID4 , GFRa1 |
07.10.2015 |
|
|
|
|
Li et al. |
Single-Cell RNA-Seq Analysis Maps Development of Human Germline Cells and Gonadal Niche Interactions |
Single-cell RNA-Sequencing, Other |
|
27.04.2017 |
|
|
|
|
Tang et al. |
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development |
Bulk RNA-Sequencing, Whole Genome Bisulfite Sequencing |
SOX17 , BLIMP1 , TFCP2L1 KLF4 |
04.06.2015 |
|
|
|
|
Guo et al. |
The Transcriptome and DNA Methylome Landscapes of Human Primordial Germ Cells |
Single-cell RNA-Sequencing, Whole Genome Bisulfite Sequencing |
|
04.06.2015 |
|
|
|
|
Chalmel et al. |
Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility |
Bulk RNA-Sequencing |
|
27.08.2012 |
|
|
|
|
Guo et al. |
Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development |
Whole Genome Bisulfite Sequencing, Bulk RNA-Sequencing, Single-cell RNA-Sequencing |
OCT4 , NANOG , NFYA NFYB , DMRT1 , DAZL DDX4 , SALL4 , SYCP3 PRM2 , GATA4 , LHCGR |
05.10.2017 |
|
|
|
|
Sohni et al. |
The Neonatal and Adult Human Testis Defined at the Single-Cell Level |
Single-cell RNA-Sequencing |
|
05.02.2019 |
|
|
|
|
Chen et al. |
Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis |
Single-cell RNA-Sequencing |
|
30.07.2018 |
|
|
|
|
Green et al. |
A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq |
Single-cell RNA-Sequencing |
|
23.08.2018 |
|
|
|
|
Lukassen et al. |
Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing |
Single-cell RNA-Sequencing |
|
25.04.2018 |
|
|
|
|
Hermann et al. |
The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids |
Single-cell RNA-Sequencing, Other |
|
06.11.2018 |
|
|
|
|
Gomes et al. |
Characterization of migratory primordial germ cells in the aorta-gonad-mesonephros of a 4.5-week-old human embryo: a toolbox to evaluate in vitro early gametogenesis |
Immunohistochemistry, Other |
POU5F1 , NANOG , PRDM1 TFAP2C , KIT , SOX17 |
08.03.2018 |
|
|
|
|
Lima et al. |
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure |
Sanger Sequencing |
DMRT1 |
02.07.2015 |
|
|
|
|
Lopes et al. |
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 |
Genome-wide Association Study, Microarray, Whole Exome Sequencing |
DMRT1 |
21.03.2013 |
|
|
|
|
Nakamura et al. |
Next‐generation sequencing for patients with non‐obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations |
Other |
SOHLH1 , TEX11 |
17.07.2017 |
|
|
|
|
Yang et al. |
TEX11 is mutated in infertile men with azoospermia and regulates genome‐wide recombination rates in mouse |
Other |
TEX11 |
01.07.2015 |
|
|
|
|
Ruf-zamojski et al. |
Regulatory Architecture of the LβT2 Gonadotrope Cell Underlying the Response to Gonadotropin-Releasing Hormone |
Bulk RNA-Sequencing, Genome-wide Chromatin Accessibility, Other |
|
14.02.2018 |
|
|
|
|
Laurentino et al. |
High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting |
Single-cell RNA-Sequencing, Targeted Deep Bisulfite Sequencing |
|
28.08.2019 |
|
|
|
|
Araujo et al. |
Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes |
Whole Exome Sequencing, Sanger Sequencing |
DMRT1 , REC8 , TEX15 KLHL10 , DNMT3B , TEX14 SYCE1L |
03.09.2019 |
|
|
|
|
Busch et al. |
FSHB -211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia |
Targeted Genotyping |
FSHR , FSHB |
21.01.2019 |
|
|
|
|
Van et al. |
Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest. |
Sanger Sequencing, Whole Exome Sequencing, Other |
STAG3 |
04.11.2019 |
|
|
|
|
Chen et al. |
Human Primordial Germ Cells Are Specified from Lineage-Primed Progenitors |
Other, Single-cell RNA-Sequencing |
TFAP2A , SOX17 |
24.12.2019 |
|
|
|
|
Castillo et al. |
The contribution of human sperm proteins to the development and epigenome of the preimplantation embryo |
Other |
|
23.05.2018 |
|
|
|
|
Agarwal et al. |
Proteomic Analyses of Human Sperm Cells: Understanding the Role of Proteins and Molecular Pathways Affecting Male Reproductive Health |
Other |
|
27.02.2020 |
|
|
|
|
He et al. |
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella |
Whole Exome Sequencing, Immunohistochemistry |
AKAP4 , DNAH1 , CFAP43 CFAP44 , CFAP69 |
22.01.2019 |
|
|
|
|
Coutton et al. |
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice |
Functional Study |
ARMC2 , DNAH1 , CFAP43 CFAP44 , CFAP69 , FSIP2 WDR66 |
24.01.2019 |
|
|
|
|
Kherraf et al. |
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility |
Functional Study |
WDR66 , CFAP251 , CFAP43 CFAP44 |
16.08.2018 |
|
|
|
|
Wyrwoll et al. |
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility |
Whole Exome Sequencing, Other |
M1AP |
06.08.2020 |
|
|
|
|
Lecluze et al. |
Dynamics of the transcriptional landscape during human fetal testis and ovary development |
Immunohistochemistry |
|
15.05.2020 |
|
|
|
|
Von et al. |
Screening for biomarkers of spermatogonia within the human testis: a whole genome approach |
Immunohistochemistry |
FGFR3 , DSG2 |
05.05.2010 |
|
|
|
|
Feig et al. |
A new paradigm for profiling testicular gene expression during normal and disturbed human spermatogenesis |
Microarray |
|
17.11.2006 |
|
|
|
|
Okada et al. |
Genome-Wide Expression of Azoospermia Testes Demonstrates a Specific Profile and Implicates ART3 in Genetic Susceptibility |
Microarray |
ART3 , ART3-SNP25 |
08.02.2008 |
|
|
|
|
Oud et al. |
A systematic review and standardized clinical validity assessment of male infertility genes |
Other |
|
13.03.2019 |
|
|
|
|
Laurentino et al. |
A germ cell‐specific ageing pattern in otherwise healthy men |
Whole Genome Bisulfite Sequencing, Other |
|
20.09.2020 |
|
|
|
|
Schilit et al. |
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility |
Microarray, Other, Immunohistochemistry |
SYCP2 |
02.01.2020 |
|
|
|
|
Krausz et al. |
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men |
Whole Exome Sequencing, Immunohistochemistry |
ADAD2 , TERB1 , SHOC1 MSH4 , RAD21L1; TEX14 , DMRT1 TEX11 , SYCE1 , MEIOB MEI1 , STAG3 |
03.08.2020 |
|
|
|
|
Portela et al. |
Development and Disease-Dependent Dynamics of Spermatogonial Subpopulations in Human Testicular Tissues |
Immunohistochemistry |
MAGEA4 , UTF1 , PCNA |
14.01.2020 |
|
|
|
|
Schubert et al. |
Does the FSHB c.‐211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients? |
Immunohistochemistry |
FSH , FSHB , LHX3 |
28.08.2020 |
|
|
|
|
Bang et al. |
Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer? |
Targeted Genotyping |
FSHR , FSHB |
27.11.2017 |
|
|
|
|
Pohl et al. |
Molecular Aging Markers in Patients with Klinefelter Syndrome |
Other, Targeted Genotyping |
|
01.08.2019 |
|
|
|
|
Wistuba et al. |
Testicular blood supply is altered in the 41,XXY* Klinefelter syndrome mouse model |
Immunohistochemistry, Functional Study |
|
01.09.2020 |
|
|
|
|
Torres-fernández et al. |
TRIM71 deficiency causes germ cell loss during mouse embryogenesis and is associated with human male infertility |
Single-cell RNA-Sequencing, Other, Targeted Genotyping, Whole Exome Sequencing |
TRIM71 |
13.05.2021 |
|
|
|
|
Heckmann et al. |
The initial maturation status of marmoset testicular tissues has an impact on germ cell maintenance and somatic cell response in tissue fragment culture |
Other, Immunohistochemistry |
MAGEA4 , BOLL , SYCP3 CREM , ACRV1 |
01.04.2020 |
|
|
|
|
Rennhack et al. |
A novel cross-species inhibitor to study the function of CatSper Ca 2+ channels in sperm |
Functional Study |
CATSPER |
03.05.2018 |
|
|
|
|
Pohl et al. |
Ageing in men with normal spermatogenesis alters spermatogonial dynamics and nuclear morphology in Sertoli cells |
Immunohistochemistry |
|
27.06.2019 |
|
|
|
|
Dougherty et al. |
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module |
Whole Exome Sequencing, Immunohistochemistry, Functional Study |
CFAP45 , CFAP52 , AK 8 |
02.11.2020 |
|
|
|
|
Schiffer et al. |
Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling |
Immunohistochemistry, Functional Study |
CATSPER , CATSPER2 |
19.01.2020 |
|
|
|
|
Loges et al. |
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects |
Sanger Sequencing, Immunohistochemistry |
DNAH9 , DNAH11 , DNAH5 DNAI1 , DNAI2 , CCDC114 |
21.11.2018 |
|
|
|
|
Brenker et al. |
Synergistic activation of CatSper Ca2+ channels in human sperm by oviductal ligands and endocrine disrupting chemicals |
Functional Study |
CATSPER |
05.09.2018 |
|
|
|
|
Wang et al. |
The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA |
Functional Study |
CATSPER |
18.09.2020 |
|
|
|
|
Cindrić et al. |
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics |
Genome-wide Association Study, Targeted Genotyping, Whole Exome Sequencing, Immunohistochemistry |
SPEF , HYDIN |
20.09.2019 |
|
|
|
|
Alhathal et al. |
A genomics approach to male infertility |
Other, Whole Exome Sequencing |
CFAP44 , NANOS1 , SYCP2 TEX11 , TTC21A , USP9Y ZMYND15 , TERB1 [CCDC79] , PIWIL2 MAGEE2 , ZSWIM7 |
28.07.2020 |
|
|
|
|
Shitao et al. |
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes |
Genome-wide Association Study |
BRDT , CHD5 , MCM9 MLH3 , ZFX |
15.07.2020 |
|
|
|
|
Fakhro et al. |
Point-of-care whole-exome sequencing of idiopathic male infertility |
Whole Exome Sequencing |
CCDC155 , NANOS2 , SPO11 TEX14 , and WNK3 |
12.04.2018 |
|
|
|
|
An et al. |
Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia |
Targeted Genotyping, Functional Study |
TEX11 , TEX14 , SYCE1 |
16.03.2021 |
|
|
|
|
Aprea et al. |
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility |
Whole Exome Sequencing |
CCDC39 , CCDC40 , RSPH1 RSPH9 , HYDIN , SPEF2 |
17.02.2023 |
|
|
|
|
Siebert-kuss et al. |
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns |
Bulk RNA-Sequencing |
TSPY4 , LUZP4 , HMGB4 RWDD2A , CCDC183 , CNNM1 SERF1B , SOX15 , SPATA4 SYCP3 , MKI67 , NR5A1 CFTR , PLK4 , DMRT1 SYCE1 |
29.11.2022 |
|
|
|
|
Wyrwoll et al. |
Analysis of copy number variation in men with non-obstructive azoospermia |
Whole Exome Sequencing, Array-based comparative genomic hybridisation |
TEKT5 , SYCE1 , MLH3 EIF2B2 , SLX4 , CLPP CYP2E1 , SCART1 , EIF2B2 CLUAP1 , NLRC3 |
30.08.2022 |
|
|
|
|
Wyrwoll et al. |
Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes |
Functional Study, Whole Exome Sequencing, Immunohistochemistry |
MutS , MSH4 , MSH5 |
27.12.2021 |
|
|
|
|
Mall et al. |
Heading towards a dead end: The role of DND1 in germ line differentiation of human iPSCs |
Bulk RNA-Sequencing |
DND1 , NANOS3 , PRDM1 |
15.10.2021 |
|
|
|
|
Cerván-martín et al. |
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
Genome-wide Association Study |
HLA-DRB1 , VRK1 |
15.11.2022 |
|
|
|
|
Wallmeier et al. |
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly |
Genome-wide Association Study |
TP73 , TP53 , FOXJ1 RFX2 , TP63 , NOTCH1 |
01.07.2021 |
|
|
|
|
Di-persio et al. |
Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis |
Single-cell RNA-Sequencing |
EGR4 , UTF1 , MAGEA4 |
21.09.2021 |
|
|
|
|
Westerich et al. |
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos |
Whole Exome Sequencing, Microarray, Immunohistochemistry, Bulk RNA-Sequencing, Other |
DND1 |
20.02.2023 |
|
|
|
|
Oud et al. |
A de novo paradigm for male infertility |
Whole Exome Sequencing, Other |
RBM5 , GREB1L , QSER1 CSTF3 , U2AF2 , HNRNPL CDC5L , CWC27 , TOPAZ1 |
10.01.2022 |
|
|
|
|
Wu et al. |
Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis. |
Single-cell RNA-Sequencing, Single-cell ATAC Sequencing |
CTCF , BORIS , NFY DMRT6 , EN1 , ISL1 GLI3 |
12.01.2021 |
|
|
|
|
Nie et al. |
Single-cell analysis of human testis aging and correlation with elevated body mass index |
Single-cell RNA-Sequencing |
KIT |
09.05.2022 |
|
|
|
|
El-omri-charai et al. |
DNA methylation dynamic in male rat germ cells during gametogenesis |
Whole Genome Bisulfite Sequencing |
- |
01.07.2023 |
|
|
|
|
Matsunari et al. |
Modeling lethal X-linked genetic disorders in pigs with ensured fertility |
Other |
OTC , IL2RG , DMD |
08.01.2018 |
|
|
|
|
Murat et al. |
The molecular evolution of spermatogenesis across mammals |
Single-nucleus RNA Sequencing |
TEX11 , PI4KB , DMRT1 IP6K1 , RUBCNL , D1Pas1 H2al2a |
21.12.2022 |
|
|
|
|
Gaysinskaya et al. |
Transient reduction of DNA methylation at the onset of meiosis in male mice |
Whole Genome Bisulfite Sequencing |
- |
04.04.2018 |
|
|
|
|
Garcia-alonso et al. |
Single-cell roadmap of human gonadal development |
Other, smFISH, Single-cell RNA-Sequencing |
SRY |
06.07.2022 |
|
|
|
|
Serrano et al. |
Sperm DNA methylation is predominantly stable in mice offspring born after transplantation of long-term cultured spermatogonial stem cells |
Reduced-Representation Bisulfite Sequencing, High-resolution bisulfite Sanger PCR, RT-qPCR |
Tal2 |
07.04.2023 |
|
|
|
|
Potabattula et al. |
Increasing methylation of sperm rDNA and other repetitive elements in the aging male mammalian germline |
Bisulfite Pyrosequencing, Deep Bisulfite Sequencing |
- |
01.07.2020 |
|
|
|
|
Laiho et al. |
Transcriptome profiling of the murine testis during the first wave of spermatogenesis |
Whole Genome Bisulfite Sequencing |
- |
17.04.2013 |
|
|
|
|
Rajachandran et al. |
Dissecting the spermatogonial stem cell niche using spatial transcriptomics |
Slide-seq, Immunohistochemistry |
KIT |
25.07.2023 |
|
|
|
|
Lau et al. |
Single-Cell RNA Sequencing of the Cynomolgus Macaque Testis Reveals Conserved Transcriptional Profiles during Mammalian Spermatogenesis |
Single-cell RNA-Sequencing |
DNMT3L , UTF1 , PIWIL4 SOHLH1 , EGR4 , FGFR3 UCHL1 , DMRT1 , NFYB/C NfyB/C , YY1 , CTCFL REL , TBX1 , BACH1 |
13.08.2020 |
|
|
|
|
Singh et al. |
Conserved Transcriptome Features Define Prepubertal Primate Spermatogonial Stem Cells as Adark Spermatogonia and Identify Unique Regulators |
Single-cell RNA-Sequencing |
MAP2K2 , RAC3 , PAK4 TOLLIP , SH2B2 |
01.03.2023 |
|
|
|
|
Pluta et al. |
Identification of 22 susceptibility loci associated with testicular germ cell tumors |
Genotyping |
KITLG |
23.07.2023 |
|
|
|
|
Shen et al. |
Integrated Molecular Characterization of Testicular Germ Cell Tumors |
Whole Exome Sequencing, Bisulfite Genomic Sequencing, RNA-Sequencing |
KIT , KRAS , NRAS PIK3CA |
12.06.2018 |
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Chen et al. |
Dissecting mammalian spermatogenesis using spatial transcriptomics |
Slide-seq |
Smcp , Lyar , Tnp1 H3f3b , Hils1 , H2bl1 H1fnt , Tnp1 , Tnp2 Prm1 , Prm2 , Tssk6 Habp4 |
02.11.2021 |
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Guo et al. |
The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty |
Single-cell RNA-Sequencing |
SOX9 |
09.01.2020 |
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Lambrot et al. |
Whole-genome sequencing of H3K4me3 and DNA methylation in human sperm reveals regions of overlap linked to fertility and development |
Chromatin Immunopreciptation Sequencing, Whole Genome Bisulfite Sequencing |
FOXO1 |
20.07.2021 |
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Denomme et al. |
The inherited methylome landscape is directly altered with paternal aging and associated with offspring neurodevelopmental disorders |
Reduced-Representation Bisulfite Sequencing, Whole Genome Bisulfite Sequencing, Targeted Bisulfite Pyrosequencing |
CACNA1H , CNTNAP2 , GRIN1 SHANK2 , SHANK3 , PRKCZ ZNF804A , TCF3 , COMT DRD4 , MBP , TRPM2 DLGAP2 , KCNQ1 |
01.07.2020 |
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Dura et al. |
DNMT3A-dependent DNA methylation is required for spermatogonial stem cells to commit to spermatogenesis |
Whole Genome Bisulfite Sequencing, Single-cell RNA-Sequencing, Bulk RNA-Sequencing |
DNMT3A |
11.04.2022 |
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Castillo-venzor et al. |
Origin and segregation of the human germline |
Single-cell RNA-Sequencing, Spatial Transcriptomics |
TFAP2A |
22.05.2023 |
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Wang et al. |
Transcriptome and translatome co-evolution in mammals |
Ribosome profiling, RNA-Sequencing |
Ppp3r2 |
11.11.2020 |
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Sieper et al. |
Scrutinizing the human TEX genes in the context of human male infertility |
Single-cell RNA-Sequencing, Immunofluorescence |
TEX |
18.08.2023 |
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Capponi et al. |
Interplay of spermatogonial subpopulations during initial stages of spermatogenesis in adult primates |
Immunostaining |
KIT |
24.05.2023 |
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Dicke et al. |
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility |
Genotyping |
INSL3 , RXFP2 |
05.07.2023 |
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Hiort et al. |
Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development |
Immunohistochemical staining |
SRY , SOX9 |
06.02.2023 |
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Greither et al. |
Fertility Relevance Probability Analysis Shortlists Genetic Markers for Male Fertility Impairment |
Other |
AKAP4 , TNP1 , DAZL BRDT , DMRT1 , SPO11 ZPBP , HORMAD1 , SMC1B |
25.11.2020 |
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Greither et al. |
Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance |
Whole Exome Sequencing |
ANAPC1 , CES1 , FAM131C HLA-DRB1 , KMT2C , NOMO1 SAA1 , SRGAP2 , SUSD2 |
28.12.2022 |
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Greither et al. |
The human sperm proteome-Toward a panel for male fertility testing |
Mass Spectrometry Analysis |
C2orf16 , CYLC1 , SPATA31E1 SPATA31D1 , SPATA48 , EFHB (CFAP21) and FAM161A |
13.04.2023 |
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Nagirnaja et al. |
Diverse monogenic subforms of human spermatogenic failure |
Whole Exome Sequencing, Single-cell RNA-Sequencing, Other |
MAGEA3 |
26.12.2022 |
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Riera-escamilla et al. |
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure |
Exome Sequencing |
RBBP7 |
08.07.2022 |
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Wyrwoll et al. |
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care |
Whole Exome Sequencing |
CFTR , ADGRG2 |
08.06.2022 |
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Siebert-kuss et al. |
Genome-wide DNA methylation changes in human spermatogenesis |
EM-seq |
DMRT1 , SOX6 |
06.06.2024 |
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Stallmeyer et al. |
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility |
Exome Sequencing, Whole Genome Sequencing |
PIWIL1 , GTSF1 , GPAT2 MAEL , TDRD1 , DDX4 |
09.08.2024 |
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Lara et al. |
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns |
RNA-Sequencing, Single-cell RNA-Sequencing, Other |
NR5A1 , LUZP4 , TSPY4 ANHX , PRAP1 , FTHL17 SYNGR4 , PRR30 , ACTL7A HMGB4 , TP53TG5 , OXCT2 HEMGN , SOX15 , SPATA4 SYCP3 , MKI67 , RWDD2A CCDC183 , CNNM1 , SERF1B |
29.11.2022 |
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Shomroni et al. |
A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease |
Single-cell RNA-Sequencing |
DAXX , MRPL34 , MT-CO1 MT-ND4 , MT-ND5 , MT-CYB |
08.03.2022 |
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Young et al. |
Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation |
Functional Study, Whole Exome Sequencing |
CATSPER2 , STRCG |
02.01.2024 |
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Simon et al. |
Cylicins are a structural component of the sperm calyx being indispensable for male fertility in mice and human |
Genotyping, Immunofluorescence, Whole Exome Sequencing, Transmission electron microscopy |
Cylc1 , CYLC1 , Cylc2 CYLC2 |
28.11.2023 |
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Graf et al. |
Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors |
Single-cell RNA-Sequencing, Bulk RNA-Sequencing |
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 |
22.03.2022 |
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Kentistou et al. |
Understanding the genetic complexity of puberty timing across the allele frequency spectrum |
Other |
ZNF483 , GPR83 , MC3R |
01.07.2024 |
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Chen et al. |
Analyzing embryo dormancy at single-cell resolution reveals dynamic transcriptional responses and activation of integrin-Yap/Taz prosurvival signaling |
Single-cell RNA-Sequencing, RNA-Sequencing |
- |
05.09.2024 |
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