Male Fertility Gene Atlas

CRU Male Germ Cells

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Access Author Title Data Sets Important Genes Or Proteins Publishing Date Link To Publication Link To Repository Access Data In Rgv
No Access Aston et al. Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia Genome-wide Association Study 02.01.2013 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access Sato et al. Replication Study and Meta-Analysis of Human Nonobstructive Azoospermia in Japanese Populations Targeted Genotyping 27.02.2013 Link
No Access 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 Link
Open Access Irie et al. SOX17 Is a Critical Specifier of Human Primordial Germ Cell Fate Single-cell RNA-Sequencing SOX17 , BLIMP1 15.01.2015 Link Link Rgv Link
No Access Gkountela et al. DNA Demethylation Dynamics in the Human Prenatal Germline Bulk RNA-Sequencing, Whole Genome Bisulfite Sequencing 04.06.2015 Link LinkLink Rgv Link
Open Access Guo et al. The adult human testis transcriptional cell atlas Single-cell RNA-Sequencing 12.10.2018 Link Link
No Derivatives 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 Link
No Access Sasaki et al. Robust In Vitro Induction of Human Germ Cell Fate from Pluripotent Stem Cells Bulk RNA-Sequencing, Other BLIMP1 06.08.2015 Link Link
No Access Omran et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins Functional Study Ktu , PF13 04.12.2008 Link LinkLinkLinkLinkLink
Open Access Olbrich et al. Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry Functional Study HYDIN 27.09.2012 Link
No Derivatives 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 Link
No Access 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 Link
Open Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access Wang et al. In-depth proteomic analysis of the human sperm reveals complex protein compositions Other 23.12.2012 Link
No Access Amaral et al. Identification of Proteins Involved in Human Sperm Motility Using High-Throughput Differential Proteomics Other 24.09.2014 Link
Open Access 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 Link
No Access Zimmermann et al. Research Resource: The Dynamic Transcriptional Profile of Sertoli Cells During the Progression of Spermatogenesis Single-cell RNA-Sequencing 01.04.2015 Link Rgv Link
No Derivatives 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 Link
No Access 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 Link Rgv Link
Open Access 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 Link Rgv Link Rgv Link
No Access 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 Link Link Rgv Link
Open Access 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 Link Rgv Link
No Access 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 Link Link Rgv Link
No Access 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 Link
Open Access 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 Link Link Rgv Link Rgv Link
No Derivatives Sohni et al. The Neonatal and Adult Human Testis Defined at the Single-Cell Level Single-cell RNA-Sequencing 05.02.2019 Link Link
Open Access Chen et al. Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis Single-cell RNA-Sequencing 30.07.2018 Link Link Rgv Link
No Access Green et al. A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq Single-cell RNA-Sequencing 23.08.2018 Link Link Rgv Link
Open Access Lukassen et al. Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing Single-cell RNA-Sequencing 25.04.2018 Link Link Rgv Link
No Derivatives Hermann et al. The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids Single-cell RNA-Sequencing, Other 06.11.2018 Link LinkLinkLinkLinkLinkLink Rgv Link Rgv Link
Open Access 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 Link
No Access 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 Link
No Derivatives 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 Link
No Access 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 Link
Open Access Yang et al. TEX11 is mutated in infertile men with azoospermia and regulates genome‐wide recombination rates in mouse Other TEX11 01.07.2015 Link
Open Access 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 Link LinkLinkLink
Open Access 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 Link Link
No Derivatives Wyrwoll et al. [PREPRINT] Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility Whole Exome Sequencing M1AP 15.10.2019 Link
Open Access 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 Link
No Access 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 Link
Open Access 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 Link
No Derivatives Chen et al. Human Primordial Germ Cells Are Specified from Lineage-Primed Progenitors Other, Single-cell RNA-Sequencing TFAP2A , SOX17 24.12.2019 Link Link
No Access Castillo et al. The contribution of human sperm proteins to the development and epigenome of the preimplantation embryo Other 23.05.2018 Link
Open Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link Link
No Access Lecluze et al. Dynamics of the transcriptional landscape during human fetal testis and ovary development Immunohistochemistry 15.05.2020 Link
No Access Von et al. Screening for biomarkers of spermatogonia within the human testis: a whole genome approach Immunohistochemistry FGFR3 , DSG2 05.05.2010 Link
Open Access Feig et al. A new paradigm for profiling testicular gene expression during normal and disturbed human spermatogenesis Microarray 17.11.2006 Link
No Derivatives 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 Link
Open Access Oud et al. A systematic review and standardized clinical validity assessment of male infertility genes Other 13.03.2019 Link
Open Access Laurentino et al. A germ cell‐specific ageing pattern in otherwise healthy men Whole Genome Bisulfite Sequencing, Other 20.09.2020 Link
No Access Schilit et al. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility Microarray, Other, Immunohistochemistry SYCP2 02.01.2020 Link
No Access 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 Link
Open Access Portela et al. Development and Disease-Dependent Dynamics of Spermatogonial Subpopulations in Human Testicular Tissues Immunohistochemistry MAGEA4 , UTF1 , PCNA 14.01.2020 Link
Open Access 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 Link
No Access Bang et al. Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer? Targeted Genotyping FSHR , FSHB 27.11.2017 Link
Open Access Pohl et al. Molecular Aging Markers in Patients with Klinefelter Syndrome Other, Targeted Genotyping 01.08.2019 Link
Open Access Wistuba et al. Testicular blood supply is altered in the 41,XXY* Klinefelter syndrome mouse model Immunohistochemistry, Functional Study 01.09.2020 Link
Open Access 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 Link Link
No Access 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 Link
No Access 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 Link
No Access Pohl et al. Ageing in men with normal spermatogenesis alters spermatogonial dynamics and nuclear morphology in Sertoli cells Immunohistochemistry 27.06.2019 Link
Open Access 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 Link
No Derivatives 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 Link
No Derivatives 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
No Access 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 Link
Open Access 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 Link Link
Open Access 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 Link Link
Open Access 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 Link
Open Access 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 Link
Open Access 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 Link Link
Open Access 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 Link
Open Access 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 Link
Open Access 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 Link Link
No Access 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 Link
Open Access 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 Link Link
Open Access 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 Link
Open Access 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 Link Link
No Access El-omri-charai et al. DNA methylation dynamic in male rat germ cells during gametogenesis Whole Genome Bisulfite Sequencing - 01.07.2023 Link Link
Open Access Matsunari et al. Modeling lethal X-linked genetic disorders in pigs with ensured fertility Other OTC , IL2RG , DMD 08.01.2018 Link
Open Access Murat et al. The molecular evolution of spermatogenesis across mammals Single-nucleus RNA Sequencing TEX11 , PI4KB , DMRT1
IP6K1 , RUBCNL , D1Pas1
H2al2a
21.12.2022 Link
Open Access Gaysinskaya et al. Transient reduction of DNA methylation at the onset of meiosis in male mice Whole Genome Bisulfite Sequencing - 04.04.2018 Link Link
Open Access Garcia-alonso et al. Single-cell roadmap of human gonadal development Other, smFISH, Single-cell RNA-Sequencing SRY 06.07.2022 Link
Open Access 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 Link Link
Open Access 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 Link
Open Access Laiho et al. Transcriptome profiling of the murine testis during the first wave of spermatogenesis Whole Genome Bisulfite Sequencing - 17.04.2013 Link Link
Open Access Rajachandran et al. Dissecting the spermatogonial stem cell niche using spatial transcriptomics Slide-seq, Immunohistochemistry KIT 25.07.2023 Link
Open Access 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 Link
Open Access 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 Link
Open Access Pluta et al. Identification of 22 susceptibility loci associated with testicular germ cell tumors Genotyping KITLG 23.07.2023 Link
Open Access 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 Link
Open Access 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 Link
Open Access Guo et al. The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty Single-cell RNA-Sequencing SOX9 09.01.2020 Link
Open Access 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 Link
Open Access 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 Link
Open Access 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 Link
Open Access Castillo-venzor et al. Origin and segregation of the human germline Single-cell RNA-Sequencing, Spatial Transcriptomics TFAP2A 22.05.2023 Link
Open Access Wang et al. Transcriptome and translatome co-evolution in mammals Ribosome profiling, RNA-Sequencing Ppp3r2 11.11.2020 Link Link
Open Access Sieper et al. Scrutinizing the human TEX genes in the context of human male infertility Single-cell RNA-Sequencing, Immunofluorescence TEX 18.08.2023 Link
Open Access Capponi et al. Interplay of spermatogonial subpopulations during initial stages of spermatogenesis in adult primates Immunostaining KIT 24.05.2023 Link
No Access Dicke et al. Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility Genotyping INSL3 , RXFP2 05.07.2023 Link
No Access Hiort et al. Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development Immunohistochemical staining SRY , SOX9 06.02.2023 Link
Open Access 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 Link Link
Open Access 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 Link
Open Access 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 Link
Open Access Nagirnaja et al. Diverse monogenic subforms of human spermatogenic failure Whole Exome Sequencing, Single-cell RNA-Sequencing, Other MAGEA3 26.12.2022 Link Link
No Access 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 Link
No Access Wyrwoll et al. Genetic Architecture of Azoospermia-Time to Advance the Standard of Care Whole Exome Sequencing CFTR , ADGRG2 08.06.2022 Link