Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesA whole genome Bayesian scan for adaptive genetic divergence in West African cattle.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.The semaphorins.Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.The early developmental gene Semaphorin 5c contributes to olfactory behavior in adult DrosophilaEndosomal sorting by Semaphorin 4A in retinal pigment epithelium supports photoreceptor survival.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaNext-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesDrivers: A Biologically Contextualized, Cross-Inferential View of the Epidemiology of Neurodegenerative Disorders.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Transmembrane semaphorins: Multimodal signaling cues in development and cancer.Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A geneThe molecular basis of retinal dystrophies in pakistan.Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Up-regulation of semaphorin 4A expression in human retinal pigment epithelial cells by PACAP released from cocultured neural cells.The role of Sema4A in angiogenesis, immune responses, carcinogenesis, and retinal systems.Unoprostone reduces oxidative stress- and light-induced retinal cell death, and phagocytotic dysfunction, by activating BK channels.A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.The genetic dissection of Myo7a gene expression in the retinas of BXD mice.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Biallelic SEMA3A defects cause a novel type of syndromic short stature.Exome sequencing study of 20 patients with high myopia
P2860
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P2860
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Identification of novel mutati ...... retinal degenerative diseases
@ast
Identification of novel mutati ...... retinal degenerative diseases
@en
Identification of novel mutati ...... retinal degenerative diseases
@nl
type
label
Identification of novel mutati ...... retinal degenerative diseases
@ast
Identification of novel mutati ...... retinal degenerative diseases
@en
Identification of novel mutati ...... retinal degenerative diseases
@nl
prefLabel
Identification of novel mutati ...... retinal degenerative diseases
@ast
Identification of novel mutati ...... retinal degenerative diseases
@en
Identification of novel mutati ...... retinal degenerative diseases
@nl
P2093
P2860
P3181
P356
P1476
Identification of novel mutati ...... retinal degenerative diseases
@en
P2093
P2860
P304
P3181
P356
10.1136/JMG.2005.035055
P407
P577
2006-04-01T00:00:00Z