The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
about
FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signalingIdentifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Abnormal retinal development associated with FRMD7 mutations.The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmusExpression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells.FERM domain containing protein 7 (FRMD7) upregulates the expression of neuronal cytoskeletal proteins and promotes neurite outgrowth in Neuro-2a cells.Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmusExpression and localization of FRMD7 in human fetal brain, and a role for F-actin.X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.Brain Transcriptome Sequencing of a Natural Model of Alzheimer's DiseaseMolecular genetic analysis of patients with sporadic and X-linked infantile nystagmusAbnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism.Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmusA novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese familyExtraocular muscles in patients with infantile nystagmus: adaptations at the effector level.Application of zebrafish oculomotor behavior to model human disorders.What we know about the generation of nystagmus and other ocular oscillations: are we closer to identifying therapeutic targets?Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.The Role of FRMD7 in Idiopathic Infantile Nystagmus.Retinal axon guidance at the midline: Chiasmatic misrouting and consequences.Salsalate treatment following traumatic brain injury reduces inflammation and promotes a neuroprotective and neurogenic transcriptional response with concomitant functional recovery.A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.Retinal microstructures are altered in patients with idiopathic infantile nystagmus.A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
P2860
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P2860
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
description
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
@ast
im Januar 2010 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/01/15)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/01/15)
@nl
наукова стаття, опублікована в січні 2010
@uk
مقالة علمية (نشرت في 15-1-2010)
@ar
name
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@ast
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@en
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@nl
type
label
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@ast
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@en
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@nl
prefLabel
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@ast
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@en
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@nl
P2093
P2860
P3181
P356
P1476
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
@en
P2093
Hai-Lan Chen
Irene Gottlob
Joanne Betts-Henderson
Moira Crosier
Paolo Salomoni
Pierluigi Nicotera
P2860
P304
P3181
P356
10.1093/HMG/DDP500
P577
2009-11-05T00:00:00Z