Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesDisruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxSmith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityThe ePHD protein SPBP interacts with TopBP1 and together they co-operate to stimulate Ets1-mediated transcriptionRai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Of mice and men: molecular genetics of congenital heart diseaseA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menNeurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesSmith-Magenis syndromePenetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alikeModeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organizationExpression of a retinoic acid signature in circulating CD34 cells from coronary artery disease patients.Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeRai1 frees mice from the repression of active wake behaviors by light.High-resolution genome screen for bone mineral density in heterogeneous stock rat.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 BehaviorControlled somatic and germline copy number variation in the mouse modelPotocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesA phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disordersWhole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Mouse chromosome engineering for modeling human disease.Evolution and diversity of copy number variation in the great ape lineageFailure of neuronal homeostasis results in common neuropsychiatric phenotypes.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.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.Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.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.How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
P2860
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P2860
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
description
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2005
@ast
im April 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2005/04/15)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd op 2005/04/15)
@nl
наукова стаття, опублікована у квітні 2005
@uk
مقالة علمية (نشرت في 15-4-2005)
@ar
name
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@ast
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@en
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@nl
type
label
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@ast
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@en
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@nl
prefLabel
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@ast
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@en
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@nl
P2093
P3181
P356
P1476
Inactivation of Rai1 in mice r ...... els for Smith-Magenis syndrome
@en
P2093
Hisashi Nakamura
James R Lupski
Jaya Visvanathan
Monica J Justice
P304
P3181
P356
10.1093/HMG/DDI085
P577
2005-03-03T00:00:00Z