A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
about
Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)An integrated map of genetic variation from 1,092 human genomesAMD and the alternative complement pathway: genetics and functional implicationsNext generation sequencing technology and genomewide data analysis: Perspectives for retinal researchThe Application of Genetic Risk Scores in Age-Related Macular Degeneration: A ReviewGenetic and environmental underpinnings to age-related ocular diseasesGenetic variants in the complement system predisposing to age-related macular degeneration: a reviewExome sequencing and complex disease: practical aspects of rare variant association studiesGenetics and epigenetics of rheumatoid arthritisKnowns and unknowns for psychophysiological endophenotypes: integration and response to commentariesSeven new loci associated with age-related macular degeneration.Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.A unified method for detecting secondary trait associations with rare variants: application to sequence data.BETASEQ: a powerful novel method to control type-I error inflation in partially sequenced data for rare variant association testingGenetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationAutoimmunity: homeostasis of innate immunity gone awry.Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions.Complement regulators in human disease: lessons from modern genetics.Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Ancestry estimation and control of population stratification for sequence-based association studies.Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.Why AMD is a disease of ageing and not of development: mechanisms and insights.A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.Proteomic analysis of human vitreous humor.Rare complement factor H variant associated with age-related macular degeneration in the Amish.Transcriptome sequencing of a large human family identifies the impact of rare noncoding variantsWhole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.Complement system in pathogenesis of AMD: dual player in degeneration and protection of retinal tissue.SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Clinical applications of age-related macular degeneration genetics.Age-related macular degeneration: genetics and biology coming together.Emerging roles for nuclear receptors in the pathogenesis of age-related macular degeneration.A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.Delivery of a clinical genomics serviceBioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration
P2860
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P2860
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
description
2011 nî lūn-bûn
@nan
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
2011年论文
@zh
2011年论文
@zh-cn
name
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@ast
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@en
type
label
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@ast
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@en
prefLabel
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@ast
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
@en
P2093
P2860
P50
P356
P1433
P1476
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
@en
P2093
Albert K Tai
Betsy Campochiaro
Johanna M Seddon
Kate Montgomery
Kimberly Chin
Mark J Daly
Oleg Iartchouk
Perciliz L Tan
Peter Campochiaro
Robyn Reynolds
P2860
P2888
P304
P356
10.1038/NG.976
P407
P577
2011-10-23T00:00:00Z