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Article

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

American journal of human genetics - 5 Feb 2015

Racedo Silvia E, McDonald-McGinn Donna M, Chung Jonathan H, Goldmuntz Elizabeth, Zackai Elaine, Emanuel Beverly S, Zhou Bin, Funke Birgit, Morrow Bernice E

Abstract excerpt

The human chromosome 22q11.2 region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) characterized by conotruncal heart defects (CTDs) and other congenital anomalies. The majority of individuals have a 3 Mb deletion whose proximal region contains the presumed disease-associated gene TBX1 (T-box 1). Although a small subset have proximal...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Echocardiography

Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Share to Real-Time Polymerase Chain Reaction

Share to Segmental Duplications, Genomic

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 25658046
DOI: 10.1016/j.ajhg.2014.12.025
PMCID: PMC4320261

Genes

TBX1
CRKL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.PMID 25658046Read ↗

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.Semantic proximity Read ↗

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

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome.Semantic proximity Read ↗

Cardiac conduction and arrhythmia: insights from Nkx2.5 mutations in mouse and humans.Semantic proximity Read ↗

Central 22q11.2 deletions.Semantic proximity Read ↗

A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3Semantic proximity Read ↗

<i>Tbx1</i> interacts genetically with <i>Vegfr3</i> to regulate cardiac lymphangiogenesis in miceSemantic proximity Read ↗

Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.Semantic proximity Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.Semantic proximity Read ↗

Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.Semantic proximity Read ↗

The del22q11.2 Candidate Gene <i>Tbx1</i> Controls Regional Outflow Tract Identity and Coronary Artery PatterningSemantic proximity Read ↗

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