Associated Papers
Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.
Liu S et al.
Investigative Ophthalmology & Visual Science, 2026
41532703 (PubMed )
Supplement: iovs-67-1-30_s006.xlsx › S1
Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.
Zhao X et al.
Genomics, 2025
X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Liu F et al.
Frontiers in Ophthalmology, 2022
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.
Wu S et al.
Journal of Molecular Neuroscience : Mn, 2019
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.
Pu J et al.
Experimental and Therapeutic Medicine, 2017
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.
Zhao H et al.
Bmj Open, 2016
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
Song FW et al.
Journal of Zhejiang University. Science. B, 2013
FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.
Pu J et al.
Plos One, 2013
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Radhakrishna U et al.
European Journal of Human Genetics : Ejhg, 2012
The Role of FRMD7 in Idiopathic Infantile Nystagmus.
Watkins RJ et al.
Journal of Ophthalmology, 2012
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
Pu J et al.
Molecular Vision, 2011
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
He X et al.
Genetic Testing, 2008
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
He X et al.
Molecular Vision, 2008
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
Zhang B et al.
Molecular Vision, 2007
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