(Q37669766)

21 August 2017

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title

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development (English)

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21 August 2017

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22q11 deletion syndrome

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Peter J Scambler

1

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language of work or name

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1 April 2010

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21 August 2017

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21 August 2017

volume

31

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21 August 2017

issue

3

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21 August 2017

page(s)

378-390

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

21 August 2017

cites work

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12 December 2020

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

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12 December 2020

A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field

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12 December 2020

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.

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12 December 2020

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

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12 December 2020

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

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12 December 2020

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

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12 December 2020

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

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12 December 2020

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

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12 December 2020

Changing requirements for Gbx2 in development of the cerebellum and maintenance of the mid/hindbrain organizer

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12 December 2020

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

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12 December 2020

The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

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12 December 2020

Slit/Robo signaling is necessary to confine early neural crest cells to the ventral migratory pathway in the trunk

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12 December 2020

Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling

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12 December 2020

A genetic link between Tbx1 and fibroblast growth factor signaling.

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12 December 2020

Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo

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12 December 2020

Velo-cardio-facial syndrome: 30 Years of study

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12 December 2020

Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors.

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12 December 2020

Haemodynamics determined by a genetic programme govern asymmetric development of the aortic arch.

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12 December 2020

Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

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12 December 2020

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

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12 December 2020

Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome

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12 December 2020

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

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12 December 2020

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

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12 December 2020

Role of TBX1 in human del22q11.2 syndrome

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12 December 2020

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

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12 December 2020

Gain of function of Tbx1 affects pharyngeal and heart development in the mouse

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12 December 2020

Microduplication and triplication of 22q11.2: a highly variable syndrome

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12 December 2020

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

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12 December 2020

Crk family adaptors-signalling complex formation and biological roles

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12 December 2020

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

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12 December 2020

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

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12 December 2020

Hes1 and Hes5 control the progenitor pool, intermediate lobe specification, and posterior lobe formation in the pituitary development

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12 December 2020

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

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12 December 2020

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

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12 December 2020

Robo4 stabilizes the vascular network by inhibiting pathologic angiogenesis and endothelial hyperpermeability

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12 December 2020

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

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12 December 2020

Fibroblast growth factor receptor-1-mediated endothelial cell proliferation is dependent on the Src homology (SH) 2/SH3 domain-containing adaptor protein Crk

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12 December 2020

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

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12 December 2020

Schizophrenia and velo-cardio-facial syndrome.

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12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

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12 December 2020

Retinoic acid down-regulates Tbx1 expression and induces abnormal differentiation of tongue muscles in fetal mice

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12 December 2020

Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis.

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12 December 2020

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Retinoic acid embryopathy

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12 December 2020

The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases

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12 December 2020

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

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12 December 2020

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

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12 December 2020

[Effect of external retinoic acid on Tbx1 gene during zebrafish embryogenesis].

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12 December 2020

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

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12 December 2020

The 22q11 deletion syndromes

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12 December 2020

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

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12 December 2020

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

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12 December 2020

Genetic Compensation in a Human Genomic Disorder

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12 December 2020

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

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12 December 2020

Prevalence of 22q11 microdeletion

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo

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12 December 2020

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

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12 December 2020

The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome

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12 December 2020

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

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12 December 2020

Visualization of outflow tract development in the absence of Tbx1 using an FgF10 enhancer trap transgene.

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12 December 2020

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

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12 December 2020

A genetic etiology for interruption of the aortic arch type B

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12 December 2020

Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.

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12 December 2020

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

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12 December 2020

Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption

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12 December 2020

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

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12 December 2020

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

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12 December 2020

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

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12 December 2020

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

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12 December 2020

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

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12 December 2020

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

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12 December 2020

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy

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12 December 2020

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

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12 December 2020

Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse

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12 December 2020

The cyclic gene Hes1 contributes to diverse differentiation responses of embryonic stem cells

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12 December 2020

A common molecular basis for rearrangement disorders on chromosome 22q11

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12 December 2020

10.1007/S00246-009-9613-0

Identifiers

DOI

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release_nlhlosaxsngpzbksaqpvriuihy

21 August 2017

Fatcat ID

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24 November 2022

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