(Q50737118)

18 March 2018

title

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. (English)

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18 March 2018

Peter Scambler

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author name string

Irinna Papangeli

series ordinal

1

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18 March 2018

publication date

19 June 2012

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18 March 2018

Wiley interdisciplinary reviews. Developmental biology

published in

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18 March 2018

volume

2

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18 March 2018

issue

3

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18 March 2018

page(s)

393-403

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18 March 2018

Prevalence of 22q11 microdeletion

cites work

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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

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The 22q11 deletion syndromes

21 January 2018

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Schizophrenia and velo-cardio-facial syndrome.

21 January 2018

1 reference

Velo-cardio-facial syndrome: 30 Years of study

21 January 2018

1 reference

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

21 January 2018

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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

21 January 2018

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Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

21 January 2018

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Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

21 January 2018

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Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

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Development of the pharyngeal arch system related to the pulmonary and bronchial vessels in the avian embryo. With a concept on systemic-pulmonary collateral artery formation.

21 January 2018

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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

21 January 2018

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

21 January 2018

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

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In vivo response to high-resolution variation of Tbx1 mRNA dosage

21 January 2018

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Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion

21 January 2018

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Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm

21 January 2018

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VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

21 January 2018

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Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development

21 January 2018

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Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

21 January 2018

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Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

21 January 2018

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Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

21 January 2018

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Bmp signaling regulates myocardial differentiation from cardiac progenitors through a MicroRNA-mediated mechanism

21 January 2018

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Identification of downstream genetic pathways of Tbx1 in the second heart field

21 January 2018

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Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

21 January 2018

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Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21

21 January 2018

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Functional specificity of the Xenopus T-domain protein Brachyury is conferred by its ability to interact with Smad1.

21 January 2018

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Smad6 inhibits the transcriptional activity of Tbx6 by mediating its degradation

21 January 2018

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Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

21 January 2018

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Discriminating power of localized three-dimensional facial morphology

21 January 2018

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Properties of branchiomeric and somite-derived muscle development in Tbx1 mutant embryos

21 January 2018

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The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis

21 January 2018

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A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

21 January 2018

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Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse

21 January 2018

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Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

21 January 2018

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Smad7 is required for the development and function of the heart

21 January 2018

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The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning

21 January 2018

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TBX1 is required for inner ear morphogenesis

21 January 2018

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Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle

21 January 2018

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Suppression of neural fate and control of inner ear morphogenesis by Tbx1

21 January 2018

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Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells

21 January 2018

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Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

21 January 2018

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Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

21 January 2018

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Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients

21 January 2018

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Her9 represses neurogenic fate downstream of Tbx1 and retinoic acid signaling in the inner ear.

21 January 2018

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Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development

21 January 2018

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Schizophrenia as a disorder of neurodevelopment

21 January 2018

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The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders

21 January 2018

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A comprehensive analysis of 22q11 gene expression in the developing and adult brain

21 January 2018

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Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model

21 January 2018

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Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

21 January 2018

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Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

21 January 2018

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Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice

21 January 2018

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Premature death in adults with 22q11.2 deletion syndrome

21 January 2018

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Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice

21 January 2018

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Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways

21 January 2018

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Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

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Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome

21 January 2018

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Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field

21 January 2018

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Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation

21 January 2018

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Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1

21 January 2018

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Congenital heart disease in mice deficient for the DiGeorge syndrome region

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/WDEV.75

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18 March 2018

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18 March 2018