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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Retinoic acid induced 1

RAI1, retinoic acid induced 1, Retinoic Acid-Induced
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, AGE, Histone
Papers on RAI1
Smith‑Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency.
Fang et al., Guangzhou, China. In Mol Med Report, Jan 2016
Smith‑Magenis syndrome (SMS) is a rare condition with multiple congenital malformations caused by the haploinsufficiency of RAI1 (deletion or mutation of RAI1).
Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.
Saffen et al., Shanghai, China. In Sci Rep, Dec 2015
RAI1 (retinoic acid induced-1) is a dosage-sensitive gene that causes Smith-Magenis syndrome (SMS) when mutated or deleted and Potocki-Lupski Syndrome (PTLS) when duplicated, with psychiatric features commonly observed in both syndromes.
Dose-Dependent Antiteratogenic Effects of Folic Acid on All-Trans Retinoic Acid-Induced Cleft Palate in Fetal Mice.
Chen et al., In Cleft Palate Craniofac J, Dec 2015
OBJECTIVE:   Although numerous studies have confirmed that consumption of folic acid (FA) during early pregnancy reduces the risk of oral facial clefts in newborn infants, the optimal dose of FA for reducing this risk remains unknown.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Lupski et al., Houston, United States. In Am J Hum Genet, Dec 2015
The key dosage-sensitive genes RAI1 and PMP22 are respectively associated with PTLS and CMT1A.
Investigation of genes important in neurodevelopment disorders in adult human brain.
Ernst et al., Montréal, Canada. In Hum Genet, Oct 2015
We also performed expression analyses using BrainSpan data for NDD-associated genes SATB2, EHMT1, FMR1, MECP2, MBD5, CTNND2, RAI1, CHD8, GRIN2A, GRIN2B, TCF4, SCN2A, and DYRK1A and find high expression of these genes in adult brain, at least comparable to developing human brain, confirming that genes associated with NDDs likely have a role in adult tissue.
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.
Sheng et al., Beijing, China. In Medicine (baltimore), May 2015
The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation.
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
Elsea et al., Shanghai, China. In Med Wieku Rozwoj, Apr 2015
microdeletion containing the retinoic acid-induced 1 (RAI1) gene or mutation within RAI1.
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
Demily et al., Lyon, France. In Orphanet J Rare Dis, 2014
deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene.
All-Trans Retinoic Acid-Induced Deficiency of the Wnt/β-Catenin Pathway Enhances Hepatic Carcinoma Stem Cell Differentiation.
Li et al., Kunming, China. In Plos One, 2014
Retinoic acid (RA) is an important biological signal that directly differentiates cells during embryonic development and tumorigenesis.
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.
Elsea et al., Houston, United States. In Mol Cytogenet, 2014
RAI1 is a dosage-sensitive essential neurodevelopmental gene.
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
International Stroke Genetics Consortium et al., München, Germany. In Stroke, 2014
RAI1-PEMT-RASD1 (PLAS=2.69×10(-5)),
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
Elsea et al., Richmond, United States. In Am J Hum Genet, 2012
RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator
[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].
Śmigiel et al., Wrocław, Poland. In Med Wieku Rozwoj, 2012
The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2),
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Srivastava et al., Greenwood, United States. In Eur J Hum Genet, 2012
Mutation screening of the coding region of the RAI1 gene in patients with with features suggestive of Smith-Magenis syndrome identified two patients with novel heterozygous nonsynonymous alterations of unknown significance.
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
Potocki et al., Houston, United States. In Am J Med Genet A, 2011
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Williams et al., Richmond, United States. In Expert Rev Mol Med, 2010
Functional studies have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function.
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
Huizing et al., Bethesda, United States. In Plos One, 2010
Data suggest that RAI1 expression emerged as a genetic target for development of therapeutic interventions for SMS.
Identification of a quality-control mechanism for mRNA 5'-end capping.
Kiledjian et al., United States. In Nature, 2010
We recently reported that the yeast Rai1 protein has pyrophosphohydrolase activity towards mRNAs lacking a 5'-end cap.
Mutations in RAI1 associated with Smith-Magenis syndrome.
Elsea et al., East Lansing, United States. In Nat Genet, 2003
RAI1 may play a role in regulating behavior, as dominant frameshift mutations in RAI1 have been found in individuals with Smith-Magenis syndrome
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