Enhancer elements upstream of the SHOX gene are active in the developing limb - Wikidata - awgldk - TriplyDB

Enhancer elements upstream of the SHOX gene are active in the developing limb

Enhancer elements upstream of the SHOX gene are active in the developing limb

http://www.wikidata.org/entity/Q41736356

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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.Structural and numerical changes of chromosome X in patients with esophageal atresia The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures Implications of human genome structural heterogeneity: functionally related genes tend to reside in organizationally similar genomic regions.Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression cis-regulatory mutations are a genetic cause of human limb malformations Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.A Track Record on SHOX: From Basic Research to Complex Models and Therapy Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.FGFR3 is a target of the homeobox transcription factor SHOX in limb development.Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.Wachstumsstörungen als Leitsymptom Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

P2860

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P2860

Enhancer elements upstream of the SHOX gene are active in the developing limb

http://www.wikidata.org/entity/Q41736356

description

2009 nî lūn-bûn

@nan

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

2009年论文

@zh

2009年论文

@zh-cn

name

Enhancer elements upstream of the SHOX gene are active in the developing limb

@en

type

label

Enhancer elements upstream of the SHOX gene are active in the developing limb

@en

prefLabel

Enhancer elements upstream of the SHOX gene are active in the developing limb

@en

P1433

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P2860

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P356

P1433

European Journal of Human Genetics

P1476

Enhancer elements upstream of the SHOX gene are active in the developing limb

@en

P2093

Claudia Durand

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

Eva Decker

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

Fiona Bangs

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

Gudrun Rappold

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

Jason Signolet

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

P2860

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

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

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Cerberus-like is a secreted factor with neutralizing activity expressed in the anterior primitive endoderm of the mouse gastrula

Long-range control of gene expression: emerging mechanisms and disruption in disease.

AT-rich palindromes mediate the constitutional t(11;22) translocation.

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

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P304

527-532

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scholarly article

P356

10.1038/EJHG.2009.216

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5

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18

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2009-12-09T00:00:00Z

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40483943

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1025094172

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19997128

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2987325

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