Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics (Q36405448)

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English	Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics	scientific article

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

3 references

25 September 2020

30 April 2021

25 October 2022

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics (English)

1 reference

Europe PubMed Central

14 August 2017

macular degeneration

2 references

25 September 2020

25 October 2022

regulation of gene expression

1 reference

8 September 2019

DNA copy number variations

2 references

14 September 2019

30 April 2021

1 reference

12 October 2019

genetic epigenesis

1 reference

25 September 2020

single-nucleotide polymorphism

1 reference

2

object named as

Chi-Chao Chan

1 reference

Europe PubMed Central

14 August 2017

author name string

Melissa M Liu

1

1 reference

Europe PubMed Central

14 August 2017

Jingsheng Tuo

3

1 reference

Europe PubMed Central

14 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

31 August 2012

10 references

Europe PubMed Central

14 August 2017

25 April 2019

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

25 September 2020

30 April 2021

25 October 2022

10 references

Europe PubMed Central

14 August 2017

25 April 2019

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

25 September 2020

30 April 2021

25 October 2022

6

1 reference

Europe PubMed Central

14 August 2017

13

1 reference

Europe PubMed Central

14 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

9 references

Europe PubMed Central

25 April 2019

Europe PubMed Central

19 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

8 September 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

12 October 2019

Europe PubMed Central

25 September 2020

Europe PubMed Central

30 April 2021

Europe PubMed Central

25 October 2022

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1479-7364-6-13

0 references

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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Common micro RNAs (miRNAs) target complement factor H (CFH) regulation in Alzheimer's disease (AD) and in age-related macular degeneration (AMD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

miRNAs as potential therapeutic targets for age-related macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

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

1 reference

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30 September 2017

Association assessment of copy number polymorphism and risk of age-related macular degeneration

1 reference

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30 September 2017

Effect of miR-23 on oxidant-induced injury in human retinal pigment epithelial cells

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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

1 reference

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Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications

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Nutritional supplementation and age-related macular degeneration

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Genetics of age-related macular degeneration: current concepts, future directions

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Regulation of angiogenesis and choroidal neovascularization by members of microRNA-23~27~24 clusters

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DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration

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Copy number variations in candidate genes in neovascular age-related macular degeneration

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Prevalence of age-related macular degeneration in the US population

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CCL3L1 copy number variation and susceptibility to HIV-1 infection: a meta-analysis

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Genome-wide analysis of copy number variants in age-related macular degeneration

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Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration

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An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

1 reference

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30 September 2017

The role of complement in AMD.

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30 September 2017

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

1 reference

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30 September 2017

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

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30 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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Physiological and pathological roles for microRNAs in the immune system

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Mitochondrial DNA repair and association with aging--an update

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The molecular genetic basis of age-related macular degeneration: an overview

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Gene copy number variation and common human disease

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Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

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Origins and functional impact of copy number variation in the human genome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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Copy number variation in human health, disease, and evolution

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30 September 2017

ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

Mitochondrial DNA haplogroups associated with age-related macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

Decline in genomic DNA methylation through aging in a cohort of elderly subjects

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Molecular pathology of age-related macular degeneration

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Mitochondrial DNA damage and its potential role in retinal degeneration

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

30 September 2017

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

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30 September 2017

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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MicroRNAs regulate ocular neovascularization

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30 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500238

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Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration

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Psoriasis is associated with increased beta-defensin genomic copy number

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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

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Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration

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30 September 2017

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

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

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DNA methylation and human disease

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Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration

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Complement factor H polymorphism in age-related macular degeneration

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Complement factor H polymorphism and age-related macular degeneration

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

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

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30 September 2017

Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration

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Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients.

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Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.

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21 September 2018

Glutathione S-transferase M1, T1, and P1 gene polymorphism in exudative age-related macular degeneration: a preliminary report.

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Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers

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21 September 2018

The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration.

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Mitochondrial abnormalities in ageing macular photoreceptors.

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Age-related macular degeneration

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based on heuristic

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Mitochondrial DNA haplogroups and age-related maculopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA damage and repair in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-6-13

1 reference

Europe PubMed Central

14 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

ResearchGate publication ID

0 references

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