MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
about
Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stressBrain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin associationSequence-specific DNA binding by AT-hook motifs in MeCP2.A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
P2860
Q30843318-18B08C1D-1CFD-420C-BA23-725AF20C711FQ37024209-2BF9D368-01DB-437A-870F-F618D149E85CQ42393391-ABF64F2C-F0F7-4D61-8950-67404F6EEC08Q46016669-847A6179-B8E9-42DD-95E9-1B9E3CC4ED7BQ46490716-6252832C-6E23-4058-A718-BB83204FD6B6Q52702062-C34102F1-F4C2-4EB9-8AD0-EBF26EA30232Q53158422-AF8AE787-1A55-4C5B-A7EA-3AE040B73122
P2860
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
MECP2 missense mutations outsi ...... with intellectual disability.
@ast
MECP2 missense mutations outsi ...... with intellectual disability.
@en
type
label
MECP2 missense mutations outsi ...... with intellectual disability.
@ast
MECP2 missense mutations outsi ...... with intellectual disability.
@en
prefLabel
MECP2 missense mutations outsi ...... with intellectual disability.
@ast
MECP2 missense mutations outsi ...... with intellectual disability.
@en
P2093
P2860
P50
P356
P1476
MECP2 missense mutations outsi ...... with intellectual disability.
@en
P2093
Chiara Di Marco
Laura Bianciardi
Lucy Raymond
Maria Antonietta Mencarelli
Ottavia Spiga
Pinella Failla
P2860
P2888
P304
P356
10.1038/JHG.2015.118
P50
P577
2015-10-22T00:00:00Z