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Mutations in FRMD7 are associated with X-linked congenital nystagmus. Additionally we are shipping FRMD7 Antibodies (30) and many more products for this protein.
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We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus
this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus.
we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment.
a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family
We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 (show GPR143 Proteins) in the molecular pathogenesis of IIN in 49 unrelated Belgian probands.
Abnormal retinal development is associated with FRMD7 mutations.
A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member.
FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.
Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.
a model whereby CASK (show CASK Proteins) recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus.
FRMD7 as a key regulator in establishing a neuronal circuit asymmetry
A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.
FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.
Mutations in this gene are associated with X-linked congenital nystagmus.
FERM domain-containing protein 7