Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations - Wikidata - awgldk - TriplyDB

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

http://www.wikidata.org/entity/Q24673094

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The T-box family Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation Epigenetic mechanisms in cardiac development and disease Genetics of congenital heart disease: the glass half empty Reconstruction and in vivo analysis of the extinct tbx5 gene from ancient wingless moa (Aves: Dinornithiformes)Crystal Structure of the Human NKX2.5 Homeodomain in Complex with DNA Target Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.Identification and localization of TBX5 transcription factor during human cardiac morphogenesis Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome Inherited conduction system abnormalities--one group of diseases, many genes Isl1Cre reveals a common Bmp pathway in heart and limb development ISL1 protein transduction promotes cardiomyocyte differentiation from human embryonic stem cells Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum.Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome Causes of Clinical Diversity in Human TBX5 Mutations TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function An evolutionarily conserved nuclear export signal facilitates cytoplasmic localization of the Tbx5 transcription factor.Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Molecular genetics of congenital atrial septal defects Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype Genetic disorders of the skeleton: a developmental approach Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.Holt Oram syndrome: a registry-based study in Europe.Xenopus: An emerging model for studying congenital heart disease.The midline protein regulates axon guidance by blocking the reiteration of neuroblast rows within the Drosophila ventral nerve cord Enhancers compete with a long non-coding RNA for regulation of the Kcnq1 domain TBX5 is required for embryonic cardiac cell cycle progression.A hybrid computational method for the discovery of novel reproduction-related genes.Diagnosis of Fanconi anemia by diepoxybutane analysis.A case report on holt-oram syndrome (heart-hand).Heart or hand? Unmasking the basis for specific Holt-Oram phenotypes.

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P2860

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

http://www.wikidata.org/entity/Q24673094

description

1999 nî lūn-bûn

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1999 թուականի Մարտին հրատարակուած գիտական յօդուած

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1999 թվականի մարտին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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Proceedings of the National Academy of Sciences of the United States of America

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Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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M Kamisago

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P2860

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor

Familial heart disease with skeletal malformations

An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus

The T protein encoded by Brachyury is a tissue-specific transcription factor

The Brachyury gene encodes a novel DNA binding protein

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Margherita Cirillo Silengo

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