MFGA - Male Fertility Gene Atlas

Publications

Author	Title	Data Sets	Important Genes Or Proteins	Publishing Date
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
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
Guo et al.	The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty	Single-cell RNA-Sequencing	SOX9	09.01.2020
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
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
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
Castillo-venzor et al.	Origin and segregation of the human germline	Single-cell RNA-Sequencing, Spatial Transcriptomics	TFAP2A	22.05.2023
Wang et al.	Transcriptome and translatome co-evolution in mammals	Ribosome profiling, RNA-Sequencing	Ppp3r2	11.11.2020
Sieper et al.	Scrutinizing the human TEX genes in the context of human male infertility	Single-cell RNA-Sequencing, Immunofluorescence	TEX	18.08.2023
Capponi et al.	Interplay of spermatogonial subpopulations during initial stages of spermatogenesis in adult primates	Immunostaining	KIT	24.05.2023
Dicke et al.	Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility	Genotyping	INSL3 , RXFP2	05.07.2023
Hiort et al.	Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development	Immunohistochemical staining	SRY , SOX9	06.02.2023
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
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
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
Nagirnaja et al.	Diverse monogenic subforms of human spermatogenic failure	Whole Exome Sequencing, Single-cell RNA-Sequencing, Other	MAGEA3	26.12.2022
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
Wyrwoll et al.	Genetic Architecture of Azoospermia-Time to Advance the Standard of Care	Whole Exome Sequencing	CFTR , ADGRG2	08.06.2022
Siebert-kuss et al.	Genome-wide DNA methylation changes in human spermatogenesis	EM-seq	DMRT1 , SOX6	06.06.2024
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
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
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
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
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
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
Kentistou et al.	Understanding the genetic complexity of puberty timing across the allele frequency spectrum	Other	ZNF483 , GPR83 , MC3R	01.07.2024
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