Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

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http://www.wikidata.org/entity/Q37872382
Genetics of bipolar disorderSmith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityFolliculin contributes to VHL tumor suppressing activity in renal cancer through regulation of autophagy.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainRAI14 (retinoic acid induced protein 14) is an F-actin regulator: Lesson from the testis.Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.Co-morbidity of complex genetic disorders and hypersomnias of central origin: lessons from the underlying neurobiology of wake and sleep.MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.Using frogs faces to dissect the mechanisms underlying human orofacial defects.Yin-yang actions of histone methylation regulatory complexes in the brain.Modeling human craniofacial disorders in Xenopus.First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and OverviewRAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.Acetaldehyde inhibits retinoic acid biosynthesis to mediate alcohol teratogenicity.
P2860

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Item
http://www.wikidata.org/entity/Q37872382
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 19 April 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@en
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@nl
type
label
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@en
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@nl
prefLabel
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@en
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P478
P50
P577
P698
P921
P356
P1433
P1476
Smith-Magenis syndrome: haploi ...... ogical and metabolic pathways.
@en
P2093
P2860
P304
P31
P356
P478
P50
P577
P698
P921