An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
about
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.The H3K4 methyltransferase Setd1b is essential for hematopoietic stem and progenitor cell homeostasis in mice.
P2860
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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name
An atypical 12q24.31 microdele ...... romic intellectual disability.
@en
An atypical 12q24.31 microdele ...... romic intellectual disability.
@nl
type
label
An atypical 12q24.31 microdele ...... romic intellectual disability.
@en
An atypical 12q24.31 microdele ...... romic intellectual disability.
@nl
prefLabel
An atypical 12q24.31 microdele ...... romic intellectual disability.
@en
An atypical 12q24.31 microdele ...... romic intellectual disability.
@nl
P2093
P2860
P1433
P1476
An atypical 12q24.31 microdele ...... romic intellectual disability.
@en
P2093
Cheol-Hee Kim
Hyung-Goo Kim
Il-Keun Kong
Jonathan D J Labonne
Kang-Han Lee
Lawrence C Layman
Michael P Diamond
Shigeki Iwase
P2860
P2888
P304
P356
10.1007/S00439-016-1668-4
P577
2016-04-22T00:00:00Z