A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
about
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.Mutations in the RNA granule component TDRD7 cause cataract and glaucomaSevere combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450sccThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersA novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadismFive novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyMutations in NR5A1 associated with ovarian insufficiencySF-1 a key player in the development and differentiation of steroidogenic tissuesZebrafish sex determination and differentiation: involvement of FTZ-F1 genesThe inflammatory and normal transcriptome of mouse bladder detrusor and mucosaDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseasePhospholipid--driven gene regulationMammalian sex determination—insights from humans and mice.The embryonic function of germ cell nuclear factor is dependent on the DNA binding domainA recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentThe novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiencyRole of developmental factors in hypothalamic functionImpaired follicle development and infertility in female mice lacking steroidogenic factor 1 in ovarian granulosa cells.Functional biology of the primate fetal adrenal gland: advances in technology provide new insight.Advances in the molecular genetics of hypogonadotropic hypogonadism.Disentangling genetic vs. environmental causes of sex determination in the common frog, Rana temporariaLoss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination.Minireview: Nuclear receptor-controlled steroid hormone synthesis and metabolismTransgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.A genomic atlas of human adrenal and gonad development.New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.Minireview: steroidogenic factor 1: its roles in differentiation, development, and diseaseSwitching on sex: transcriptional regulation of the testis-determining gene SryPituitary gland development and disease: from stem cell to hormone productionNew solutions to an ancient riddle: defining the differences between Adam and Eve.Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.Sex determination and the Y chromosome.Ovarian differentiation and gonadal failure.Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1.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.Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure.Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadiasApparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
P2860
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P2860
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A mutation in the gene encodin ...... and adrenal failure in humans
@ast
A mutation in the gene encodin ...... and adrenal failure in humans
@en
A mutation in the gene encodin ...... and adrenal failure in humans
@en-gb
A mutation in the gene encodin ...... and adrenal failure in humans
@nl
type
label
A mutation in the gene encodin ...... and adrenal failure in humans
@ast
A mutation in the gene encodin ...... and adrenal failure in humans
@en
A mutation in the gene encodin ...... and adrenal failure in humans
@en-gb
A mutation in the gene encodin ...... and adrenal failure in humans
@nl
prefLabel
A mutation in the gene encodin ...... and adrenal failure in humans
@ast
A mutation in the gene encodin ...... and adrenal failure in humans
@en
A mutation in the gene encodin ...... and adrenal failure in humans
@en-gb
A mutation in the gene encodin ...... and adrenal failure in humans
@nl
P2093
P3181
P356
P1433
P1476
A mutation in the gene encodin ...... and adrenal failure in humans
@en
P2093
J C Achermann
J L Jameson
P C Hindmarsh
P2888
P3181
P356
10.1038/9629
P407
P577
1999-06-01T00:00:00Z
P5875
P6179
1000913953