Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia
about
Cloning and characterisation of the Sry-related transcription factor gene Sox8.Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutationsSOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activationSox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleusLong-term consequences of Sox9 depletion on inner ear development.A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.Genetic study of SOX9 in a case of campomelic dysplasia.Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice.Expression of master regulatory genes controlling skeletal development in benign cartilage and bone forming tumors.Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaStructure-function analysis of mouse Sry reveals dual essential roles of the C-terminal polyglutamine tract in sex determinationSex determination: lessons from families and embryos.Amino acid function and docking site prediction through combining disease variants, structure alignments, sequence alignments, and molecular dynamics: a study of the HMG domain.Regulation of male sexual development by Sry and Sox9.A case of campomelic dysplasia without sex reversal.Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.Sox9 function in craniofacial development and disease.Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.Dimerization and Transactivation Domains as Candidates for Functional Modulation and Diversity of Sox9.A Model for Dimerization of the SOX Group E Transcription Factor Family.Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development.Endogenous expression of Müllerian inhibiting substance in early postnatal rat sertoli cells requires multiple steroidogenic factor-1 and GATA-4-binding sites.Enterocyte-specific regulation of the apical nutrient transporter SLC6A19 (B(0)AT1) by transcriptional and epigenetic networks.The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences.Identification of an interaction between SOX9 and HSP70.The evolutionary process of mammalian sex determination genes focusing on marsupial SRYs.Characterisation and expression of Sox9 in the Leopard gecko, Eublepharis macularius.Temporal and spatial SOX9 expression patterns in the course of gonad development of the caudate amphibian Pleurodeles waltl.
P2860
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P2860
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին 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
Functional and structural stud ...... s causing campomelic dysplasia
@ast
Functional and structural stud ...... s causing campomelic dysplasia
@en
Functional and structural stud ...... s causing campomelic dysplasia
@nl
type
label
Functional and structural stud ...... s causing campomelic dysplasia
@ast
Functional and structural stud ...... s causing campomelic dysplasia
@en
Functional and structural stud ...... s causing campomelic dysplasia
@nl
prefLabel
Functional and structural stud ...... s causing campomelic dysplasia
@ast
Functional and structural stud ...... s causing campomelic dysplasia
@en
Functional and structural stud ...... s causing campomelic dysplasia
@nl
P2093
P3181
P356
P1476
Functional and structural stud ...... s causing campomelic dysplasia
@en
P2093
A Argentaro
S McDowall
S Ranganathan
P304
P3181
P356
10.1074/JBC.274.34.24023
P407
P577
1999-08-20T00:00:00Z