Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome
about
Normal and disease-related biological functions of Twist1 and underlying molecular mechanismsHomozygous nonsense mutations in TWIST2 cause Setleis syndromeGuideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on CraniosynostosisHearing loss in a mouse model of Muenke syndromeDestabilization 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 mechanismsClinical 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
P2860
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P2860
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@ast
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@en
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@nl
type
label
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@ast
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@en
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@nl
prefLabel
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@ast
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@en
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@nl
P2093
P2860
P356
P1476
Saethre-Chotzen syndrome cause ...... ke coronal synostosis syndrome
@en
P2093
Andreas Trusen
Birgit Petersen
Christian Schropp
Edeltraut Reinhart
Florian Hoppe
Gabriele Lieb
Hartmut Collmann
Jan Pahnke
Johanna Sold
Jürgen Krauss
P2860
P2888
P356
10.1038/SJ.EJHG.5201507
P407
P577
2006-01-01T00:00:00Z
P5875
P6179
1048996552