A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
about
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosaX-arrestin: a new retinal arrestin mapping to the X chromosomeCloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptorsAssessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosaFine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17pIn-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseThe L6 membrane proteins--a new four-transmembrane superfamilyEvidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotypeAutosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish originLocalization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGMRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of mislocalized phototransduction in photoreceptor cell death of retinitis pigmentosaA partial structural and functional rescue of a retinitis pigmentosa model with compacted DNA nanoparticlesRecessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosaAssessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisisGenetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS geneMutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophyA point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophyAn immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouseRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in miceApoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.Analysis of differentially expressed genes in retinitis pigmentosa retinas. Altered expression of clusterin mRNA.Molecular genetic techniques and applications in ophthalmology.Cone and cone-rod dystrophies.Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.Psychosocial genetics: an emerging scientific discipline.Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityEvidence for genetic heterogeneity in Best's vitelliform macular dystrophy.Mouse models of spike-wave epilepsy.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration.Pathways to photoreceptor cell death in inherited retinal degenerations.Finding and interpreting genetic variations that are important to ophthalmologists.Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects.A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
P2860
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P2860
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
name
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@ast
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en-gb
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@nl
type
label
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@ast
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en-gb
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@nl
prefLabel
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@ast
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en-gb
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@nl
P2093
P356
P1433
P1476
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
@en
P2093
D M Sheils
G J Farrar
M M Humphries
P Humphries
R Kumar-Singh
S A Jordan
P2888
P304
P356
10.1038/354478A0
P407
P577
1991-12-12T00:00:00Z
P6179
1044783150