Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome - Wikidata - wikimedia - TriplyDB

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

http://www.wikidata.org/entity/Q28279180

about

Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms Homozygous nonsense mutations in TWIST2 cause Setleis syndrome Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis Hearing loss in a mouse model of Muenke syndrome Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.High TWIST1 mRNA expression is associated with poor prognosis in lymph node-negative and estrogen receptor-positive human breast cancer and is co-expressed with stromal as well as ECM related genes.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.RNA-based TWIST1 inhibition via dendrimer complex to reduce breast cancer cell metastasis.Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Frontal Bone Insufficiency in Gsk3β Mutant Mice.Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.Disorders of the growth plate.Twist-BRD4 complex: potential drug target for basal-like breast cancer.Inflammation fuels tumor progress and metastasis.Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.Exclusion of Class III malocclusion candidate loci in Brazilian families.Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.Genetic advances in craniosynostosis.Craniosynostosis

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P2860

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

http://www.wikidata.org/entity/Q28279180

description

2006 nî lūn-bûn

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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2006 թվականի հունվարին հրատարակված գիտական հոդված

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2006年の論文

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SJ.EJHG.5201507

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European Journal of Human Genetics

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Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome

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Andreas Trusen

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Birgit Petersen

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Christian Schropp

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Edeltraut Reinhart

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Florian Hoppe

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Gabriele Lieb

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Hartmut Collmann

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Jan Pahnke

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Johanna Sold

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Jürgen Krauss

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P2860

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Another TWIST on Baller-Gerold syndrome

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

A twist code determines the onset of osteoblast differentiation

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Mutations in the human TWIST gene.

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Genetics of craniofacial development and malformation.

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sj.ejhg.5201507

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39-48

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10.1038/SJ.EJHG.5201507

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1

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1048996552

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