Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal - Test2 - elhamkhani - TriplyDB

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

http://www.wikidata.org/entity/Q24672071

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Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia Sox9b is a key regulator of pancreaticobiliary ductal system development The chondrogenic transcription factor Sox9 is a target of signaling by the parathyroid hormone-related peptide in the growth plate of endochondral bones Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus Sox9 plays multiple roles in the lung epithelium during branching morphogenesis Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage Kyphomelic dysplasia in two sib fetuses Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Position 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 dysplasia 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.Up-regulation of SOX9 in sertoli cells from testiculopathic patients accounts for increasing anti-mullerian hormone expression via impaired androgen receptor signaling Global dissociation of HuR-mRNA complexes promotes cell survival after ionizing radiation Sox9 function in craniofacial development and disease.Battle of the sexes: new insights into genetic pathways of gonadal development Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.Sry-box (Sox) transcription factors in gastrointestinal physiology and disease.SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation Dimerization and Transactivation Domains as Candidates for Functional Modulation and Diversity of Sox9.Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome Upregulation of SOX9 inhibits the growth of human and mouse melanomas and restores their sensitivity to retinoic acid Fibroblast growth factor 18 gives growth and directional cues to airway cartilage.Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease.Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.AP-1 family members act with Sox9 to promote chondrocyte hypertrophy.New genes for boys.Epigenetic regulation of male fate commitment from an initially bipotential system.3D representation of the developing chick knee joint: a novel approach integrating multiple components.sox9b is required in cardiomyocytes for cardiac morphogenesis and function

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Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

http://www.wikidata.org/entity/Q24672071

description

1995 nî lūn-bûn

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1995 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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American Journal of Human Genetics

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Mutations in SOX9, the gene re ...... sia and autosomal sex reversal

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P2093

C Kwok

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H H Punnett

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I D Young

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J D Brook

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J W Foster

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S Mansour

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P2860

A clinical and genetic study of campomelic dysplasia.

Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

A familial mutation in the testis-determining gene SRY shared by both sexes.

SRY and sex determination in mammals.

Ancestry and diversity of the HMG box superfamily.

Nuclear localization of the testis determining gene product SRY.

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