Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

PloS one - 1 Jan 2012

Carmona-Mora Paulina, Canales Cesar P, Cao Lei, Perez Irene C, Srivastava Anand K, Young Juan I, Walz Katherina

Abstract excerpt

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the molecular properties of these mutated forms and their relationship with the resulting phenotype. We compared the clinical phenotype of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromatin
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Reporter

Share to Lymphocytes

Share to Mutant Proteins

Share to Smith-Magenis Syndrome

Share to Subcellular Fractions

Share to Transcriptional Activation

Source

Open in PubMed Open full text

Identifiers

PMID: 23028815
DOI: 10.1371/journal.pone.0045155
PMCID: PMC3445574

Genes

RAI1
SMS
BDNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.PMID 23028815Read ↗

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

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

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

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Semantic proximity Read ↗

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.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 ↗

Mutations in RAI1 associated with Smith-Magenis syndrome.Semantic proximity Read ↗

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.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 ↗

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.Semantic proximity Read ↗

A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.