Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. - Wikidata - wikimedia - TriplyDB

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

http://www.wikidata.org/entity/Q51929393

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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements The R-spondin protein family Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor.Phenotypic impact of genomic structural variation: insights from and for human disease.Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?TRACER: a resource to study the regulatory architecture of the mouse genome Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Detecting structural variations in the human genome using next generation sequencing.Genome-wide identification of signaling center enhancers in the developing limb.cis-regulatory mutations are a genetic cause of human limb malformations XX males SRY negative: a confirmed cause of infertility Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes Oncogenicity of the developmental transcription factor Sox9.Non-coding genetic variants in human disease.Pituitary gigantism: update on molecular biology and management Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.From remote enhancers to gene regulation: charting the genome's regulatory landscapes.Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.WNT pathways and upper limb anomalies.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.Mechanisms of digit formation: Human malformation syndromes tell the story.Cooks syndrome: a case report and brief review.Gene mutations associated with anomalies of human gonad formation.Structural variations, the regulatory landscape of the genome and their alteration in human disease.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.Genetics of syndromic and non-syndromic hereditary nail disorders.

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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

http://www.wikidata.org/entity/Q51929393

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

@wuu

2009年学术文章

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2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh-hant

name

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@en

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@nl

type

label

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@en

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@nl

prefLabel

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@en

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@nl

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P1433

Nature Genetics

P1476

Duplications of noncoding elem ...... with brachydactyly-anonychia.

@en

P2093

Andreas Gal

http://www.w3.org/2001/XMLSchema#string

Heliosa G Santos

http://www.w3.org/2001/XMLSchema#string

Jens Altmann

http://www.w3.org/2001/XMLSchema#string

Jeske J T van Harssel

http://www.w3.org/2001/XMLSchema#string

Jolieke van Oosterwijk

http://www.w3.org/2001/XMLSchema#string

Sebastian Vanek

http://www.w3.org/2001/XMLSchema#string

Stefan Mundlos

http://www.w3.org/2001/XMLSchema#string

Thomy de Ravel

http://www.w3.org/2001/XMLSchema#string

P2860

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

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

Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus

The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.

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862-863

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scholarly article

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10.1038/NG0809-862

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8

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41

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Andrew Oliver Mungo Wilkie

Sigmar Stricker

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2009-08-01T00:00:00Z

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26701902

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19639023

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