about
Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancerA new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen geneCampomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.Mild Campomelic Dysplasia: Report on a Case and ReviewThe new collagen gene COL27A1 contains SOX9-responsive enhancer elementsCampomelic dysplasiaDeletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaMutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalSkeletal dysplasiasA novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversalA new long form of c-Maf cooperates with Sox9 to activate the type II collagen genePierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve developmentThe chondrogenic transcription factor Sox9 is a target of signaling by the parathyroid hormone-related peptide in the growth plate of endochondral bonesThe transcription factor SOX9 regulates cell cycle and differentiation genes in chondrocytic CFK2 cellsSox9 plays multiple roles in the lung epithelium during branching morphogenesisSox8 is a specific marker for muscle satellite cells and inhibits myogenesisHaploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralizationGenetic study of SOX9 in a case of campomelic dysplasia.Human sex determination.Atelosteogenesis type 2.Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasiaPosition effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaDisorders of sex development: new genes, new concepts.A case of campomelic dysplasia without sex reversal.The genetics of male undermasculinization.Chondrodysplasias due to proteoglycan defects.A case of campomelic dysplasia in whom a new mutation was found in the SOX9 geneThe clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Sox9 function in craniofacial development and disease.Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma.The versatile functions of Sox9 in development, stem cells, and human diseasesFOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in miceMesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.Revealing new candidate genes for reproductive traits in pigs: combining Bayesian GWAS and functional pathways.SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen geneA case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.
P2860
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P2860
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A clinical and genetic study of campomelic dysplasia
@nl
A clinical and genetic study of campomelic dysplasia.
@ast
A clinical and genetic study of campomelic dysplasia.
@en
A clinical and genetic study of campomelic dysplasia.
@en-gb
type
label
A clinical and genetic study of campomelic dysplasia
@nl
A clinical and genetic study of campomelic dysplasia.
@ast
A clinical and genetic study of campomelic dysplasia.
@en
A clinical and genetic study of campomelic dysplasia.
@en-gb
prefLabel
A clinical and genetic study of campomelic dysplasia
@nl
A clinical and genetic study of campomelic dysplasia.
@ast
A clinical and genetic study of campomelic dysplasia.
@en
A clinical and genetic study of campomelic dysplasia.
@en-gb
P2093
P2860
P3181
P356
P1476
A clinical and genetic study of campomelic dysplasia.
@en
P2093
P2860
P304
P3181
P356
10.1136/JMG.32.6.415
P407
P577
1995-06-01T00:00:00Z