Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS - Wikidata - wikimedia - TriplyDB

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

http://www.wikidata.org/entity/Q34329170

about

Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly Biased Polyphenism in Polydactylous Cats Carrying a Single Point Mutation: The Hemingway Model for Digit Novelty A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.cis-regulatory mutations are a genetic cause of human limb malformations A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb.An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.The impact of cis-acting polymorphisms on the human phenotype.Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Advances in the molecular genetics of non-syndromic polydactyly.Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh.Alterations to the remote control of Shh gene expression cause congenital abnormalities Fibroblast growth factors (FGFs) prime the limb specific Shh enhancer for chromatin changes that balance histone acetylation mediated by E26 transformation-specific (ETS) factors.Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.Enhancer-adoption as a mechanism of human developmental disease.Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

P2860

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P2860

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

http://www.wikidata.org/entity/Q34329170

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

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Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

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Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

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Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

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Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

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Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

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P2860

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P1433

European Journal of Human Genetics

P1476

Preaxial polydactyly/triphalan ...... nge cis-regulatory element ZRS

@en

P2093

Amjad Ali

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

Aysha Azhar

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

Hans Eiberg

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

Klaus W Kjaer

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

Lars Hansen

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

Mette Boyd

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

Muhammad Farooq

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

Shahid Mahmood Baig

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

Shoaib ur Rehman

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

Syeda Marriam Bakhtiar

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

P2860

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

An enhancer activates the pig lactase phlorizin hydrolase promoter in intestinal cells.

HnRNP U mediates the long-range regulation of Shh expression during limb development.

Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

P2888

P304

733-736

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scholarly article

P356

10.1038/EJHG.2009.225

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P433

6

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P478

18

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P50

Jesper Thorvald Troelsen

Muhammad Sajid Hussain

P577

2010-01-13T00:00:00Z

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41001218

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P698

20068592

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P932

2987342

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