Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. - Wikidata - wikimedia - TriplyDB

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

http://www.wikidata.org/entity/Q34155381

about

AMD and the alternative complement pathway: genetics and functional implications Genetic variants in the complement system predisposing to age-related macular degeneration: a review Complement regulators in human disease: lessons from modern genetics.Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.Anti-mouse properdin TSR 5/6 monoclonal antibodies block complement alternative pathway-dependent pathogenesis.Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels Genome Modeling System: A Knowledge Management Platform for Genomics.Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.Complement Dysregulation and Disease: Insights from Contemporary Genetics.Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.Family studies to find rare high risk variants in migraine.Differential Gene Expression in Age-Related Macular Degeneration New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population.THE PATHOPHYSIOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION AND THE COMPLEMENT PATHWAY AS A THERAPEUTIC TARGET.The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.The Complement Regulatory Protein CD46 Deficient Mouse Spontaneously Develops Dry-Type Age-Related Macular Degeneration-Like Phenotype.Role of Factor H and Related Proteins in Regulating Complement Activation in the Macula, and Relevance to Age-Related Macular Degeneration.Complement factor H in AMD: Bridging genetic associations and pathobiology.Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.Hemolytic Uremic Syndrome in Pregnancy and Postpartum.Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.Diseases of complement dysregulation-an overview.Genetics and genetic testing for age-related macular degeneration.Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine

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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

http://www.wikidata.org/entity/Q34155381

description

2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Human Molecular Genetics

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Whole-exome sequencing identif ...... ies with macular degeneration.

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Brett Thomas

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Edwin K S Wong

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Elaine R Mardis

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Elizabeth C Schramm

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Johanna M Seddon

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John P Atkinson

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Michael P Triebwasser

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Robyn Reynolds

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Soumya Raychaudhuri

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Yi Yu

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P2860

An integrated map of genetic variation from 1,092 human genomes

Complement factor H polymorphism in age-related macular degeneration

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

Structure of complement fragment C3b-factor H and implications for host protection by complement regulators

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

Fast and accurate short read alignment with Burrows-Wheeler transform

Strategies for multilocus linkage analysis in humans

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

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10.1093/HMG/DDU226

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19

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23

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Mark Joseph Daly

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2014-05-20T00:00:00Z

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