Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
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Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menRai1 frees mice from the repression of active wake behaviors by light.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.Quantitative genomics of voluntary exercise in mice: transcriptional analysis and mapping of expression QTL in muscleRetinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorRAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesProteomics analysis of human obesity reveals the epigenetic factor HDAC4 as a potential target for obesityExpression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.The role of BDNF, leptin, and catecholamines in reward learning in bulimia nervosaThe Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeTrkB receptor signaling in the nucleus tractus solitarius mediates the food intake-suppressive effects of hindbrain BDNF and leptin.Functional genomic architecture of predisposition to voluntary exercise in mice: expression QTL in the brain.Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainBDNF and the central control of feeding: accidental bystander or essential player?MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Mouse model implicates GNB3 duplication in a childhood obesity syndrome.The skinny on brain-derived neurotrophic factor: evidence from animal models to GWAS.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Discussing the putative role of obesity-associated genes in the etiopathogenesis of eating disorders.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Genetic sharing with coronary artery disease identifies potential novel loci for bone mineral density.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Autism genetics - an overview.Yin-yang actions of histone methylation regulatory complexes in the brain.Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression.The interrelationship of metabolic syndrome and neurodegenerative diseases with focus on brain-derived neurotrophic factor (BDNF): Kill two birds with one stone.Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.Multi-ethnic Meta-analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea Related Quantitative Trait Locus in Men.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Ulk4 regulates GABAergic signaling and anxiety-related behavior.Plasma brain-derived neurotrophic factor in prepubertal obese children: results from a 2-year lifestyle intervention programme.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
P2860
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P2860
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@en
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@nl
type
label
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@en
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@nl
prefLabel
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@en
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@nl
P2093
P2860
P921
P356
P1476
Rai1 haploinsufficiency causes ...... vidence of metabolic syndrome.
@en
P2093
Brooke Burns
Kristie Schmidt
Santhosh Girirajan
Sarah H Elsea
P2860
P304
P356
10.1093/HMG/DDQ317
P577
2010-07-27T00:00:00Z