Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Item
http://www.wikidata.org/entity/Q37316937
De novo mutations in moderate or severe intellectual disabilityAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionA genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionDisruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Inherited 2q23.1 microdeletions involving the MBD5 locus.Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression.MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice.A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.
P2860

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Item
http://www.wikidata.org/entity/Q37316937
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 20 February 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@en
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@nl
type
label
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@en
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@nl
prefLabel
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@en
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P932