Age-related macular degeneration: genetic and clinical findings (Q37822792)

23 August 2017

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title

Age-related macular degeneration: genetic and clinical findings (English)

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23 August 2017

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Haris Kokotas

1

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PubMed ID

21175380

23 August 2017

Maria Grigoriadou

series ordinal

2

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PubMed ID

21175380

23 August 2017

Michael B Petersen

series ordinal

3

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23 August 2017

23 December 2010

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Clinical Chemistry and Laboratory Medicine

23 August 2017

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23 August 2017

49

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23 August 2017

4

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23 August 2017

601-616

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Age-Related Macular Degeneration

23 August 2017

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Molecular genetics of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Overview of progress in the epidemiology of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A role for local inflammation in the formation of drusen in the aging eye.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Predilection of the macular region to high incidence of choroidal neovascularization after intense laser photocoagulation in the monkey

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Drusen in age-related macular degeneration: pathogenesis, natural course, and laser photocoagulation-induced regression

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Colour contrast sensitivity in patients with soft drusen, an early stage of ARM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Prophylactic laser treatment in early age related maculopathy reduced the incidence of exudative complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Fundus changes in (type II) mesangiocapillary glomerulonephritis simulating drusen: a histopathological report

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Fundus changes in mesangiocapillary glomerulonephritis type II: clinical and fluorescein angiographic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Inflammation and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Atherosclerosis. the road ahead

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Atherosclerosis is an inflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Evidence for an inflammatory process in age-related macular degeneration gains new support

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement-targeted therapeutics

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement, age-related macular degeneration and a vision of the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Location and structure of the human FHR-5 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement. First of two parts

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement. Second of two parts

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Discrimination between activators and nonactivators of the alternative pathway of complement: regulation via a sialic acid/polyanion binding site on factor H

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Translational mini-review series on complement factor H: structural and functional correlations for factor H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

The spectrum of complement alternative pathway-mediated diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Dense deposit disease: new insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Advances in understanding of pathogenesis of aHUS and HELLP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

The role of complement Factor H in age-related macular degeneration: a review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A radiation hybrid map of complement factor H and factor H-related genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Human genes for three complement components that regulate the activation of C3 are tightly linked

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

New alleles of C4-binding protein and factor H and further linkage data in the regulator of complement activation (RCA) gene cluster in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Human complement factor H: two factor H proteins are derived from alternatively spliced transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Human complement factor H. Tissue specificity in the expression of three different mRNA species

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement factor H polymorphism and age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement factor H variant increases the risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement factor H polymorphism in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Multilocus analysis of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Variation near complement factor I is associated with risk of advanced AMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A family of human receptors structurally related to Drosophila Toll

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Book Review Autism's False Prophets: Bad Science, Risky Medicine, and the Search for a Cure By Paul A. Offit. 298 pp., illustrated. New York, Columbia University Press, 2008. $24.95. 978-0-231-14636-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

The biology of VEGF and its receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

VEGF polymorphisms are associated with neovascular age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement factor h polymorphism, inflammatory mediators, and retinal vessel diameters: the rotterdam study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Unique gene expression profiles of donor-matched human retinal and choroidal vascular endothelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Primary structure of a putative serine protease specific for IGF-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Localization of the gene for a serine protease with IGF-binding domain (PRSS11) to human chromosome 10q25.3-q26.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

HTRA1 promoter polymorphism in wet age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

QRX, a novel homeobox gene, modulates photoreceptor gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Susceptibility genes for age-related maculopathy on chromosome 10q26

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Vascular lipases, inflammation and atherosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Genetic association of apolipoprotein E with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Variation in complement factor 3 is associated with risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Complement C3 variant and the risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

CST3 genotype associated with exudative age related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial DNA damage and its potential role in retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial DNA damage as a potential mechanism for age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial DNA haplogroups associated with age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Pathophysiology of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Further observations on the association between smoking and the long-term incidence and progression of age-related macular degeneration: the Beaver Dam Eye Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Ten-year incidence of age-related maculopathy and smoking and drinking: the Beaver Dam Eye Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Smoking and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Alcohol consumption and the risk of age-related macular degeneration: a systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Dietary antioxidants and primary prevention of age related macular degeneration: systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Measures of obesity and age-related eye diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

Large-scale modelling as a route to multiple surface comparisons of the CCP module family

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2011.091

21 January 2018

Identifiers

DOI

10.1515/CCLM.2011.091

1 reference

23 August 2017

1 reference

PubMed ID

21175380