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Article

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

Expert reviews in molecular medicine - 29 May 2025

Yang Tianmi, Pang Dejiang, Li Chunyu, Shang Huifang

Abstract excerpt

BACKGROUND: Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases. METHODS: This review provides a comprehensive overview of RAI1's role, integrating both clinical and basic research on Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism...

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Source

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Identifiers

PMID: 40437981
DOI: 10.1017/erm.2025.12
PMCID: PMC12133160

Genes

RAI1
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.PMID 40437981Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski SyndromesSemantic proximity Read ↗

Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.Semantic proximity Read ↗

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.Semantic proximity Read ↗

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndromeSemantic proximity Read ↗

Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.Semantic proximity Read ↗

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Semantic proximity Read ↗

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.Semantic proximity Read ↗

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.Semantic proximity Read ↗

<i>RAI1</i> safeguards fidelity and tempo of human neurodevelopmental gene expressionSemantic proximity Read ↗

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.Semantic proximity Read ↗

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Semantic proximity Read ↗

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