A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews
about
Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithmsMutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationRetinal dystrophies, genomic applications in diagnosis and prospects for therapyNeurological aspects of human glycosylation disordersPortuguese crypto-Jews: the genetic heritage of a complex historyMutations in POMGNT1 cause non-syndromic retinitis pigmentosaGenomic approaches for the discovery of genes mutated in inherited retinal degeneration.Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosaNeurology of inherited glycosylation disorders.Genes and mutations causing retinitis pigmentosa.Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.Genetic defects in dolichol metabolism.Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Life with too much polyprenol: polyprenol reductase deficiency.Understanding human glycosylation disorders: biochemistry leads the charge.Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesA case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Reducing the Level of Undecaprenyl Pyrophosphate Synthase Has Complex Effects on Susceptibility to Cell Wall Antibiotics.Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Regulation of dolichol-linked glycosylation.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Recent advances in shotgun lipidomics and their implication for vision research and ophthalmology.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.cis-Prenyltransferase: New Insights into Protein Glycosylation, Rubber Synthesis, and Human Diseases.Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.Retinal optogenetic therapies: clinical criteria for candidacy.Overexpression and Purification of Human Cis-prenyltransferase in Escherichia coli.Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
P2860
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P2860
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews
description
2011 nî lūn-bûn
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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@ast
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@en
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@nl
type
label
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@ast
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@en
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@nl
prefLabel
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@ast
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@en
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@nl
P2093
P2860
P3181
P1476
A missense mutation in DHDDS, ...... s pigmentosa in Ashkenazi Jews
@en
P2093
Alexey Obolensky
Artur V Cideciyan
Avigail Beryozkin
Dikla Bandah-Rozenfeld
Dror Sharon
Eyal Banin
Liliana Mizrahi-Meissonnier
Lina Zelinger
Saul Merin
Sharon B Schwartz
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.01.002
P407
P577
2011-02-03T00:00:00Z