Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
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Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutationsIdentification of SOX3 as an XX male sex reversal gene in mice and humansNonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyFive novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyMutations in NR5A1 associated with ovarian insufficiencyDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseStructure of SF-1 Bound by Different Phospholipids: Evidence for Regulatory LigandsGenetic control of testis developmentMechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient miceA 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) VariantSteroidogenic factor 1 differentially regulates fetal and adult leydig cell development in male miceSomatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentrationMutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadiasHuman male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway.Regulation of male sex determination: genital ridge formation and Sry activation in mice.FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells.Two regions within the proximal steroidogenic factor 1 promoter drive somatic cell-specific activity in developing gonads of the female mouse.Steroidogenic factor-1 (SF-1, NR5A1) and human diseaseContributions of steroidogenic factor 1 to the transcription landscape of Y1 mouse adrenocortical tumor cells.Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.Swyer's Syndrome: In a Fifty-Year-Old Female.A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.Basic concepts and recent developments in human steroid hormone biosynthesis.Developmental links between the fetal and adult zones of the adrenal cortex revealed by lineage tracing.Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.The molecular and cellular basis of gonadal sex reversal in mice and humans.Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.Integrative analysis of SF-1 transcription factor dosage impact on genome-wide binding and gene expression regulation.The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.The mammalian ovary from genesis to revelation.46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
P2860
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P2860
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Heterozygous missense mutation ...... with normal adrenal function.
@ast
Heterozygous missense mutation ...... with normal adrenal function.
@en
type
label
Heterozygous missense mutation ...... with normal adrenal function.
@ast
Heterozygous missense mutation ...... with normal adrenal function.
@en
prefLabel
Heterozygous missense mutation ...... with normal adrenal function.
@ast
Heterozygous missense mutation ...... with normal adrenal function.
@en
P2093
P2860
P50
P356
P1476
Heterozygous missense mutation ...... t with normal adrenal function
@en
P2093
Assunta Albanese
Charles Sultan
Daniel Kelberman
Gerard S Conway
Ieuan A Hughes
Mehul T Dattani
Silvia Einaudi
Tessa Homfray
Veruska Molini
P2860
P304
P356
10.1210/JC.2006-1672
P407
P577
2007-01-02T00:00:00Z