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Article

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

BMC molecular biology - 25 Aug 2010

Carmona-Mora Paulina, Encina Carolina A, Canales Cesar P, Cao Lei, Molina Jessica, Kairath Pamela, Young Juan I, Walz Katherina

Abstract excerpt

BACKGROUND: Smith-Magenis Syndrome is a contiguous gene syndrome in which the dosage sensitive gene has been identified: the Retinoic Acid Induced 1 (RAI1). Little is known about the function of human RAI1. RESULTS: We generated the full-length cDNA of the wild type protein and five mutated forms...

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Source

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Identifiers

PMID: 20738874
DOI: 10.1186/1471-2199-11-63
PMCID: PMC2939504

Genes

RAI1
SMS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20738874-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.PMID 20738874Read ↗

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