Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
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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 rhythmicityComplete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behaviorAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menRhoE deficiency produces postnatal lethality, profound motor deficits and neurodevelopmental delay in miceMice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal lossCopy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Rai1 frees mice from the repression of active wake behaviors by light.Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorAmeliorative effects of a combination of baicalin, jasminoidin and cholic acid on ibotenic acid-induced dementia model in rats.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesExpression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.Genomic sister-disorders of neurodevelopment: an evolutionary approachWhole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Behavioral disturbance and treatment strategies in Smith-Magenis syndromeSensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in miceThe molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implicationsEvidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainFailure of neuronal homeostasis results in common neuropsychiatric phenotypes.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Autism spectrum disorders: the quest for genetic syndromes.Genetic architecture of reciprocal CNVs.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.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.Molecular stages of rapid and uniform neuralization of human embryonic stem cells.Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.How much is too much? Phenotypic consequences of Rai1 overexpression in mice.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome
P2860
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P2860
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@en
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@nl
type
label
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@en
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@nl
prefLabel
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@en
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes.
@nl
P2093
P2860
P356
P1476
Rai1 deficiency in mice causes ...... minimal behavioral phenotypes
@en
P2093
Alica Goldman
Barbara A Antalffy
Dawna L Armstrong
James R Lupski
Jong W Yoo
Lisa A Yuva-Paylor
Richard Paylor
P2860
P304
P356
10.1093/HMG/DDM128
P577
2007-05-21T00:00:00Z