| scholarly article | Q13442814 |
| P50 | author | Neil J. Sebire | Q38549176 |
| Jacob Seeler | Q43190303 | ||
| Bruno Ferraz-de-Souza | Q55692789 | ||
| Kenneth McElreavey | Q91780391 | ||
| Hassan Rouba | Q93337625 | ||
| Anu Bashamboo | Q122853042 | ||
| Diana Lourenço | Q122853074 | ||
| Jean-Pierre Siffroi | Q122853076 | ||
| Joelle Bignon-Topalovic | Q122853078 | ||
| P2093 | author name string | Lin Lin | |
| Celia Ravel | |||
| Jacqueline Mandelbaum | |||
| John C Achermann | |||
| Uppala Radhakrishna | |||
| Debbie Montjean | |||
| Sophie Christin-Maitre | |||
| P2860 | cites work | The herbicide atrazine activates endocrine gene networks via non-steroidal NR5A nuclear receptors in fish and mammalian cells | Q21144313 |
| The SUMO E3 ligase RanBP2 promotes modification of the HDAC4 deacetylase | Q24534918 | ||
| Mutations in NR5A1 associated with ovarian insufficiency | Q24655709 | ||
| Structure of SF-1 Bound by Different Phospholipids: Evidence for Regulatory Ligands | Q27652795 | ||
| Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function | Q28590881 | ||
| Register data on Assisted Reproductive Technology (ART) in Europe including a detailed description of ART in Denmark | Q31032045 | ||
| Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer | Q33331554 | ||
| Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress | Q33860828 | ||
| The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification | Q33861451 | ||
| Clinical Review#: State of the art for genetic testing of infertile men. | Q34020924 | ||
| Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. | Q35800939 | ||
| Is human fecundity declining? | Q36391001 | ||
| Coordinated European investigations of semen quality: results from studies of Scandinavian young men is a matter of concern | Q36391025 | ||
| Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development | Q37104491 | ||
| Testicular dysgenesis syndrome: foetal origin of adult reproductive problems | Q37394834 | ||
| Molecular aspects of steroidogenic factor 1 (SF-1). | Q37555280 | ||
| The genetic causes of male factor infertility: a review | Q37681910 | ||
| Steroidogenic factor 1 (SF1) is essential for pituitary gonadotrope function. | Q38305638 | ||
| Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases | Q38308593 | ||
| Functional difference between Ad4BP and ELP, and their distributions in steroidogenic tissues | Q38308596 | ||
| A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s | Q38326125 | ||
| Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. | Q40459310 | ||
| A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes | Q40866057 | ||
| Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls | Q44968715 | ||
| Translin coactivates steroidogenic factor-1-stimulated transcription | Q46772391 | ||
| Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern | Q47305831 | ||
| Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. | Q52174390 | ||
| A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. | Q52514982 | ||
| Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia. | Q54592808 | ||
| Meiotic arrest at first spermatocyte level: a new inherited infertility disorder | Q71589829 | ||
| Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression | Q77578343 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | male infertility | Q280156 |
| P304 | page(s) | 505-512 | |
| P577 | publication date | 2010-10-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 | |
| P478 | volume | 87 |
| Q37433404 | 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. |
| Q29147377 | A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant |
| Q35599795 | A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase |
| Q28943316 | A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia |
| Q51062680 | A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. |
| Q36732947 | A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development |
| Q50856965 | A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. |
| Q29147443 | A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development |
| Q42144598 | Acidic residue Glu199 increases SUMOylation level of nuclear hormone receptor NR5A1. |
| Q38318638 | Adrenocortical growth and cancer |
| Q43560058 | An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation |
| Q39022061 | Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development |
| Q52772248 | Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men. |
| Q28730968 | Association of the MTHFR A1298C variant with unexplained severe male infertility |
| Q45793897 | Cigarette smoking is associated with human semen quality in synergy with functional NRF2 polymorphisms |
| Q45154990 | Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk |
| Q34321595 | Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males |
| Q37684617 | Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis |
| Q26798022 | DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease |
| Q35637370 | DSDs: genetics, underlying pathologies and psychosexual differentiation |
| Q42077086 | Direct modification and activation of a nuclear receptor-PIP₂ complex by the inositol lipid kinase IPMK. |
| Q36207215 | Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort |
| Q57420633 | Disorders of sex development—the tip of the iceberg? |
| Q52661766 | Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine. |
| Q21146665 | Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring |
| Q28513287 | Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development |
| Q38168875 | Emerging molecular methods for male infertility investigation |
| Q34615540 | Environmentally induced epigenetic transgenerational inheritance of male infertility. |
| Q26770116 | Experimental methods to preserve male fertility and treat male factor infertility |
| Q36207081 | Familial forms of disorders of sex development may be common if infertility is considered a comorbidity |
| Q38049482 | Gene mutations associated with anomalies of human gonad formation |
| Q92881459 | Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic |
| Q37074590 | Genetic causes of spermatogenic failure. |
| Q39214888 | Genetic disorders of nuclear receptors |
| Q84251824 | Genetic variation in the Nrf2 promoter associates with defective spermatogenesis in humans |
| Q38167117 | Genetics of male infertility |
| Q26786223 | Genetics of male infertility: from research to clinic |
| Q34046847 | Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis |
| Q64075443 | Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males |
| Q39334617 | Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype |
| Q47070107 | Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in Drosophila |
| Q50019323 | Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network |
| Q34787719 | Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. |
| Q36994396 | Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. |
| Q35203125 | MTHFR 677C>T polymorphism increases the male infertility risk: a meta-analysis involving 26 studies |
| Q34502168 | Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility |
| Q39028597 | Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development |
| Q41592993 | Mitochondrial DNA sequencing and large-scale genotyping identifies MT-ND4 gene mutation m.11696G>A associated with idiopathic oligoasthenospermia |
| Q90540558 | Monogenic Forms of Male Infertility |
| Q37973247 | Multifunctional role of steroidogenic factor 1 and disorders of sex development |
| Q58829733 | Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer |
| Q34058239 | Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias |
| Q90075309 | Mutation update for the NR5A1 gene involved in DSD and infertility |
| Q51144915 | Mutational screening of the NR5A1 in azoospermia. |
| Q49650327 | Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. |
| Q29147494 | NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development |
| Q47266934 | NR5A1 mutations are not associated with male infertility in Indian men. |
| Q33620962 | New NR5A1 mutations and phenotypic variations of gonadal dysgenesis |
| Q88184618 | Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes |
| Q90435057 | Non-syndromic monogenic male infertility |
| Q51453206 | Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. |
| Q58697854 | Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations |
| Q90694610 | Primary adrenal insufficiency: New genetic causes and their long-term consequences |
| Q47136765 | R383C mutation of human CDC20 results in idiopathic non-obstructive azoospermia |
| Q38995226 | Recent findings on the genetics of disorders of sex development |
| Q64066187 | SF-1 mediates reproductive toxicity induced by Cerium oxide nanoparticles in male mice |
| Q92380652 | Sertoli cell ablation and replacement of the spermatogonial niche in mouse |
| Q38806004 | Single gene defects leading to sperm quantitative anomalies. |
| Q64095935 | Steroidogenic Factor 1 (Nr5a1) is Required for Sertoli Cell Survival Post Sex Determination |
| Q30356184 | Steroidogenic factor 1 differentially regulates fetal and adult leydig cell development in male mice |
| Q34669767 | Steroidogenic factor-1 (SF-1, NR5A1) and human disease |
| Q38050355 | Steroidogenic factor-1 and human disease |
| Q36052983 | Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations |
| Q38864910 | The Battle of the Sexes: Human Sex Development and Its Disorders |
| Q37450892 | The Genetics of Infertility: Current Status of the Field |
| Q29147540 | The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency |
| Q44983800 | Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia |
| Q47914844 | Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients |
| Q37696640 | Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals |
| Q90451189 | XRCC2 mutation causes meiotic arrest, azoospermia and infertility |
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