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Article

Genetic variation in the proto-oncogene SKI and risk for orofacial clefting.

Molecular genetics and metabolism - 1 Nov 2005

Lu Wei, Volcik Kelly, Zhu Huiping, Wen Shu, Shaw Gary M, Lammer Edward J, Finnell Richard H

Abstract excerpt

BACKGROUND: SKI is a proto-oncogene that is required for development of the central nervous system and skeletal muscle, and is involved in specifying selected cranial neural-crest-derived craniofacial structures. To identify genetic variants within the SKI gene and investigate the potential association between SKI polymorphisms and risk for orofacial defects, we initially re-sequenced the gene. METHODS: DNA...

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Source

Identifiers

PMID: 16054854
DOI: 10.1016/j.ymgme.2005.06.003

Genes

SKI

Variants

Provenance

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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Genetic variation in the proto-oncogene SKI and risk for orofacial clefting.PMID 16054854Read ↗

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.Semantic proximity Read ↗

Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development.Semantic proximity Read ↗

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndromeSemantic proximity Read ↗

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576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.Semantic proximity Read ↗

Ocular abnormalities in mice lacking the Ski proto-oncogene.Semantic proximity Read ↗

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