A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
about
FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signalingIdentification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASKAbnormal retinal development associated with FRMD7 mutations.High-fidelity optical reporting of neuronal electrical activity with an ultrafast fluorescent voltage sensor.Phenotypic and molecular insights into CASK-related disorders in males.A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese familyIdentification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations.Retinal axon guidance at the midline: Chiasmatic misrouting and consequences.A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.Mitotic phosphorylation of SUN1 loosens its connection with the nuclear lamina while the LINC complex remains intact.Effect of laminin-binding BDNF on induction of recurrent laryngeal nerve regeneration by miR-222 activation of mTOR signal pathway.CASK stabilizes neurexin and links it to liprin-α in a neuronal activity-dependent manner.Novel CASK mutations in cases with syndromic microcephaly.A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
P2860
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P2860
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
A novel interaction between FR ...... diopathic infantile nystagmus.
@en
A novel interaction between FR ...... diopathic infantile nystagmus.
@nl
type
label
A novel interaction between FR ...... diopathic infantile nystagmus.
@en
A novel interaction between FR ...... diopathic infantile nystagmus.
@nl
prefLabel
A novel interaction between FR ...... diopathic infantile nystagmus.
@en
A novel interaction between FR ...... diopathic infantile nystagmus.
@nl
P2093
P2860
P356
P1476
A novel interaction between FR ...... idiopathic infantile nystagmus
@en
P2093
Irene Gottlob
Rachel J Watkins
Rajashree Patil
Sue Shackleton
P2860
P304
P356
10.1093/HMG/DDT060
P577
2013-02-12T00:00:00Z