A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
about
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signalingOrphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNAUp-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.Repressors of androgen and progesterone receptor actionDNA binding and transcriptional repression by DAX-1 blocks steroidogenesisA novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadismMale sex determination: insights into molecular mechanismsDAX1: Increasing complexity in the roles of this novel nuclear receptorSF-1 a key player in the development and differentiation of steroidogenic tissuesDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseThe structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1Mammalian sex determination—insights from humans and mice.Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeCampomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneGenetic control of testis developmentAnalyzing the coordinated gene network underlying temperature-dependent sex determination in reptilesPrimate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.Dax1 antagonizes Sry action in mammalian sex determinationFollistatin operates downstream of Wnt4 in mammalian ovary organogenesisLRH-1 and Nanog regulate Dax1 transcription in mouse embryonic stem cellsIsolation and characterization of a MAGE gene family in the Xp21.3 regionSex determination in the chicken embryo.Characterization of the Xp21-23 region in the wood lemming, a region involved in XY sex reversal.Advances in the molecular genetics of hypogonadotropic hypogonadism.Developmental expression of DAX1 in the European sea bass, Dicentrarchus labrax: lack of evidence for sexual dimorphism during sex differentiationDisentangling genetic vs. environmental causes of sex determination in the common frog, Rana temporariaHuman sex determination.Mammalian sex determination: joining pieces of the genetic puzzle.Spreading the clinical window for diagnosing fetal-onset hypogonadism in boysDown syndrome in association with features of the androgen insensitivity syndrome.A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same familySpastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.Partial disomy of Xp and the presence of SRY in a phenotypic female.Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.New solutions to an ancient riddle: defining the differences between Adam and Eve.Identification of de novo copy number variants associated with human disorders of sexual development.Sex determination and the Y chromosome.Ovarian differentiation and gonadal failure.
P2860
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P2860
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@ast
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@en
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@nl
type
label
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@ast
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@en
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@nl
prefLabel
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@ast
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@en
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@nl
P2093
P2860
P3181
P356
P1433
P1476
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
@en
P2093
E Ferrante
E R McCabe
G Chiumello
G Floridia
K C Worley
M Fraccaro
P2860
P2888
P304
P3181
P356
10.1038/NG0894-497
P407
P577
1994-08-01T00:00:00Z