Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration (Q34307274)

1 August 2017

title

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration (English)

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1 August 2017

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67

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Margaret A. Pericak-Vance

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51

Margaret A Pericak-Vance

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Mark Lathrop

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Mark Lathrop

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Felix Grassmann

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Arvydas Maminishkis

Arvydas Maminishkis

11

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Jacqueline Ramke

Jacqueline Ramke

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Robert N. Fariss

Robert N Fariss

3

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Samuel G. Jacobson

Samuel G Jacobson

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Bernhard H Weber

Bernhard H Weber

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Daniel E. Weeks

Daniel E Weeks

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Lindsay A. Farrer

Lindsay A Farrer

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Ivana K Kim

Ivana K Kim

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Sudha Iyengar

Sudha K Iyengar

56

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Andrew J Lotery

Andrew Lotery

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Dwight Stambolian

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Dwight Stambolian

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Jonathan L Haines

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Matthew Brooks

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Rinki Ratnapriya

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ORCID Public Data File 2021

Mohammad Othman

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Mohammad Othman

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Emily Y Chew

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Chi-Chao Chan

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Yvette Conley

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Donald J Zack

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Gonçalo R Abecasis

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Albert O Edwards

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Kari E Branham

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Stephanie A Hagstrom

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Neal S Peachey

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Margaret M Deangelis

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John R Heckenlively

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Robert P Igo

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Joanna E Merriam

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Yoichiro Kamatani

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Denise J Morgan

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Margaux A Morrison

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Debra A Schaumberg

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Giuliana Silvestri

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Eric Souied

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Barbara J Truitt

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Evangelia E Tsironi

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Rando Allikmets

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Thierry Léveillard

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Yuri V Sergeev

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John C Merriam

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Lana M Olson

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Yingda Jiang

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Hendrik P N Scholl

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Naushin H Waseem

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Christina F Chakarova

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Shomi S Bhattacharya

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Xiaowei Zhan

2

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David Zipprer

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Maria M Campos

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James S Friedman

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Harsha K Rajasimha

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Barbara E Klein

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Bingshan Li

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Gerald A Fishman

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Jingsheng Tuo

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Kyu Hyung Park

34

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Matthew P Johnson

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Robert V Baron

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Ronald Klein

42

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Tammy M Martin

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Jose-Alan Sahel

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Michael B Gorin

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Michael L Klein

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publication date

4 June 2014

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1 August 2017

published in

Human Molecular Genetics

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1 August 2017

volume

23

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1 August 2017

issue

21

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1 August 2017

page(s)

5827-5837

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Distilling pathophysiology from complex disease genetics

1 August 2017

cites work

1 reference

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

6 July 2018

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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

6 July 2018

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Seven new loci associated with age-related macular degeneration

6 July 2018

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Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

6 July 2018

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Spatial distribution of the pathways of cholesterol homeostasis in human retina

6 July 2018

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Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics

6 July 2018

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Rare and common variants: twenty arguments

6 July 2018

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Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models

6 July 2018

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The mystery of missing heritability: Genetic interactions create phantom heritability

6 July 2018

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A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

6 July 2018

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The oil spill in ageing Bruch membrane

6 July 2018

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A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

6 July 2018

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Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

6 July 2018

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Beals-Hecht syndrome and choroidal neovascularization.

6 July 2018

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6 July 2018

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6 July 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 July 2018

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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A generalized family-based association test for dichotomous traits

6 July 2018

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6 July 2018

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Biogenesis and function of fibrillin assemblies

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

The Sequence Alignment/Map format and SAMtools

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

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Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

6 July 2018

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6 July 2018

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Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events

6 July 2018

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6 July 2018

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Current concepts of ocular manifestations in Marfan syndrome

6 July 2018

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Macular degeneration: recent advances and therapeutic opportunities.

6 July 2018

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6 July 2018

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Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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.

6 July 2018

1 reference

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Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues

6 July 2018

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Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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6 July 2018

1 reference

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Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2

6 July 2018

1 reference

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6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Early drusen formation in the normal and aging eye and their relation to age related maculopathy: a clinicopathological study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

SMART: identification and annotation of domains from signalling and extracellular protein sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Bruch's membrane change with age

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4189898

Comparison of morphology of human macular and peripheral Bruch's membrane in older eyes

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

Ocular findings of Beals syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

Transforming growth factor‐β induces expression of vascular endothelial growth factor in human retinal pigment epithelial cells: Involvement of mitogen‐activated protein kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU276

Age-related macular degeneration

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24899048

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24899048

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU276

1 reference

1 August 2017

1 reference

1 August 2017

1 reference