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Article

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.

Science (New York, N.Y.) - 19 Feb 1999

Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D

Abstract excerpt

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues...

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10024240
DOI: 10.1126/science.283.5405.1158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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