Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
about
Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determinationThe BMP antagonist follistatin-like 1 is required for skeletal and lung organogenesisCloning and characterisation of the Sry-related transcription factor gene Sox8.Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancerMuscle differentiation is antagonized by SOX15, a new member of the SOX protein familyFailure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutationsMutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaFunctional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patientsThe dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA templateHuman homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeSOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epitheliumA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyThe DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human developmentDirect interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone geneA new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen geneSox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivationCampomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.High expression of the HMG box factor sox-13 in arterial walls during embryonic developmentBuilding the mammalian testis: origins, differentiation, and assembly of the component cell populationsMild Campomelic Dysplasia: Report on a Case and ReviewThe new collagen gene COL27A1 contains SOX9-responsive enhancer elementsMale sex determination: insights into molecular mechanismsSox3 is required for gonadal function, but not sex determination, in males and femalesDeletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaMutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalControl of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factorsSox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathFeminizing chicks: a model for avian sex determination based on titration of Hint enzyme activity and the predicted structure of an Asw-Hint heterodimerZebrafish sex determination and differentiation: involvement of FTZ-F1 genesMolecular players involved in temperature-dependent sex determination and sex differentiation in Teleost fishNovel sex-determining genes in fish and sex chromosome evolutionReproductive and developmental toxicity of dioxin in fishSox9b is a key regulator of pancreaticobiliary ductal system developmentSolution structure and backbone dynamics of the DNA-binding domain of mouse Sox-5Mammalian sex determination—insights from humans and mice.Current Status and Strategy of microRNA Research for Cartilage Development and Osteoarthritis PathogenesisFurther complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCRA molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathiesA novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal
P2860
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P2860
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին 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
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@ast
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@en
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@nl
type
label
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@ast
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@en
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@nl
prefLabel
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@ast
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@en
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@nl
P2093
P3181
P1433
P1476
Autosomal sex reversal and cam ...... ound the SRY-related gene SOX9
@en
P2093
F D Bricarelli
N Tommerup
P304
P3181
P356
10.1016/0092-8674(94)90041-8
P407
P577
1994-12-01T00:00:00Z