CST3 genotype associated with exudative age related macular degeneration - Wikidata - awgldk - TriplyDB

CST3 genotype associated with exudative age related macular degeneration

CST3 genotype associated with exudative age related macular degeneration

http://www.wikidata.org/entity/Q24672007

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Autophagy and heterophagy dysregulation leads to retinal pigment epithelium dysfunction and development of age-related macular degeneration Amyloid properties of the leader peptide of variant B cystatin C: implications for Alzheimer and macular degeneration Age-related macular degeneration: a perspective on genetic studies.Functional annotation of the human retinal pigment epithelium transcriptome A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.Advanced glycation endproduct-induced aging of the retinal pigment epithelium and choroid: a comprehensive transcriptional response.Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetics of age-related macular degeneration: current concepts, future directions.Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks.SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.New era for personalized medicine: the diagnosis and management of age-related macular degeneration.Serum cystatin C level, kidney disease markers, and incidence of age-related macular degeneration: the Beaver Dam Eye Study.Age-related macular degeneration: genetic and clinical findings.Directional protein secretion by the retinal pigment epithelium: roles in retinal health and the development of age-related macular degeneration.Next-generation therapeutic solutions for age-related macular degeneration.A discordant sib-pair linkage analysis of age-related macular degeneration.Unexpected intracellular localization of the AMD-associated cystatin C variant.Cystatin C is differentially involved in multiple system atrophy phenotypes.

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P2860

CST3 genotype associated with exudative age related macular degeneration

http://www.wikidata.org/entity/Q24672007

description

2002 nî lūn-bûn

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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի փետրվարին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

CST3 genotype associated with exudative age related macular degeneration

@ast

CST3 genotype associated with exudative age related macular degeneration

@en

CST3 genotype associated with exudative age related macular degeneration

@nl

type

label

CST3 genotype associated with exudative age related macular degeneration

@ast

CST3 genotype associated with exudative age related macular degeneration

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CST3 genotype associated with exudative age related macular degeneration

@nl

prefLabel

CST3 genotype associated with exudative age related macular degeneration

@ast

CST3 genotype associated with exudative age related macular degeneration

@en

CST3 genotype associated with exudative age related macular degeneration

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British Journal of Ophthalmology

P1476

CST3 genotype associated with exudative age related macular degeneration

@en

P2093

Gisbert Richard

http://www.w3.org/2001/XMLSchema#string

Gunnar Menzer

http://www.w3.org/2001/XMLSchema#string

Jan Zurdel

http://www.w3.org/2001/XMLSchema#string

Roger M Nitsch

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Ulrich Finckh

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P2860

Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases

A simple salting out procedure for extracting DNA from human nucleated cells

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

Identification and localization of retinal cystatin C

Analysis of expressed sequence tags of retinal pigment epithelium: cystatin C is an abundant transcript.

Simple and complex ABCR: genetic predisposition to retinal disease.

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium.

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.

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scholarly article

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10.1136/BJO.86.2.214

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2

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86

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11815350

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1771004

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