Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
about
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesOf mice and men: molecular genetics of congenital heart diseaseStructure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndromeTbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expressionHes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndromeMammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeatAsh2l interacts with Tbx1 and is required during early embryogenesisGreat vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceMOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndromeEvidence for involvement of GNB1L in autism.Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewTourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.Functionally significant, rare transcription factor variants in tetralogy of Fallot.The molecular genetics of congenital heart disease: a review of recent developments.Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.Identification of GATA6 sequence variants in patients with congenital heart defects.MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Tbx1 is a negative modulator of Mef2c.Genomic sister-disorders of neurodevelopment: an evolutionary approachDGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.The tbx/bHLH transcription factor mga regulates gata4 and organogenesis.22q11.2 deletion syndrome22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.The NF-Y complex negatively regulates Caenorhabditis elegans tbx-2 expression.Developmental trajectories in 22q11.2 deletion.Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.Tbx1, subpulmonary myocardium and conotruncal congenital heart defects.
P2860
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P2860
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@ast
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en-gb
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@nl
type
label
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@ast
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en-gb
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@nl
prefLabel
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@ast
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en-gb
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@nl
P2093
P2860
P356
P1476
Human TBX1 missense mutations ...... phenotype as 22q11.2 deletions
@en
P2093
Christiane Zweier
Christine E Campbell
Inci Aydin-Yaylagül
P2860
P356
10.1086/511993
P407
P577
2007-03-01T00:00:00Z