Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

Item
http://www.wikidata.org/entity/Q42655007
Jerky/Earthbound facilitates cell-specific Wnt/Wingless signalling by modulating β-catenin-TCF activityThe human SETMAR protein preserves most of the activities of the ancestral Hsmar1 transposaseEtiology of a genetically complex seizure disorder in Celf4 mutant miceAdolescent seizures and epilepsy syndromes.Childhood absence epilepsy: genes, channels, neurons and networks.Complex seizure disorder caused by Brunol4 deficiency in mice.Confirmation of multiple seizure susceptibility QTLs on chromosome 15 in C57BL/6J and DBA/2J inbred mice.CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function.The RNA binding domain of Jerky consists of tandemly arranged helix-turn-helix/homeodomain-like motifs and binds specific sets of mRNAsIntestinal stem cell overproliferation resulting from inactivation of the APC tumor suppressor requires the transcription cofactors Earthbound and Erect wing.JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer.Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.Wingless/Wnt Signaling in Intestinal Development, Homeostasis, Regeneration and Tumorigenesis: A Drosophila Perspective.
P2860

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

Item
http://www.wikidata.org/entity/Q42655007
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@en
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@nl
type
label
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@en
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@nl
prefLabel
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@en
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Polymorphism analysis of JRK/J ...... a case of CAE evolving to JME
@en
P2093
P304
P31
P356
10.1016/S0920-1211(01)00275-3
P433
P478
P50
P577
P698