(Q34568296)

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Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration

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scholarly article

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Europe PubMed Central

3 August 2017

Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration (English)

1 reference

Europe PubMed Central

3 August 2017

mitochondrial DNA

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Shari R Atilano

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Shari R Atilano

3

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author name string

M Cristina Kenney

1

1 reference

Europe PubMed Central

3 August 2017

Marilyn Chwa

2

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Europe PubMed Central

3 August 2017

Janelle M Pavlis

4

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Europe PubMed Central

3 August 2017

Payam Falatoonzadeh

5

1 reference

Europe PubMed Central

3 August 2017

Claudio Ramirez

6

1 reference

Europe PubMed Central

3 August 2017

Deepika Malik

7

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Europe PubMed Central

3 August 2017

Tiffany Hsu

8

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Europe PubMed Central

3 August 2017

Grace Woo

9

1 reference

Europe PubMed Central

3 August 2017

Kyaw Soe

10

1 reference

Europe PubMed Central

3 August 2017

Anthony B Nesburn

11

1 reference

Europe PubMed Central

3 August 2017

David S Boyer

12

1 reference

Europe PubMed Central

3 August 2017

Baruch D Kuppermann

13

1 reference

Europe PubMed Central

3 August 2017

S Michal Jazwinski

14

1 reference

Europe PubMed Central

3 August 2017

Michael V Miceli

15

1 reference

Europe PubMed Central

3 August 2017

Douglas C Wallace

16

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Europe PubMed Central

3 August 2017

Nitin Udar

17

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3 August 2017

language of work or name

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publication date

24 January 2013

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Europe PubMed Central

3 August 2017

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Europe PubMed Central

3 August 2017

8

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Europe PubMed Central

3 August 2017

1

1 reference

Europe PubMed Central

3 August 2017

e54339

1 reference

Europe PubMed Central

3 August 2017

copyright license

Creative Commons Attribution 4.0 International

24 January 2013

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April 2022 Public Data File from Crossref

copyright status

0 references

The yeast retrograde response as a model of intracellular signaling of mitochondrial dysfunction

1 reference

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7 July 2018

Mitochondrial haplogroups define two phenotypes of osteoarthritis.

1 reference

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7 July 2018

The retrograde response: when mitochondrial quality control is not enough

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Global DNA methylation levels are modulated by mitochondrial DNA variants

1 reference

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7 July 2018

Mitochondrial-nuclear DNA interactions contribute to the regulation of nuclear transcript levels as part of the inter-organelle communication system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial DNA (mtDNA) haplogroups and serum levels of anti-oxidant enzymes in patients with osteoarthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial complex 1 gene analysis in keratoconus.

1 reference

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7 July 2018

Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

The role of the mitochondrial genome in ageing and carcinogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Retinal pigment epithelial cells upregulate expression of complement factors after co-culture with activated T cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

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=3554762

7 July 2018

Ancient mtDNA genetic variants modulate mtDNA transcription and replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Oxidative stress renders retinal pigment epithelial cells susceptible to complement-mediated injury.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Multilocus analysis 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=3554762

7 July 2018

Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Batteries not included: diagnosis and management of mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

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=3554762

7 July 2018

Mitochondrial DNA variability modulates mRNA and intra-mitochondrial protein levels of HSP60 and HSP75: experimental evidence from cybrid lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial DNA polymorphism A4917G is independently 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=3554762

7 July 2018

Resistance of mtDNA-depleted cells to apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly 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=3554762

7 July 2018

Variation in complement factor 3 is associated with 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=3554762

7 July 2018

Complement C3 variant and the 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=3554762

7 July 2018

Estimation of systemic complement C3 activity in 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=3554762

7 July 2018

Gene expression of cytokines and cytokine receptors is modulated by the common variability of the mitochondrial DNA in cybrid cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Proteomics of organelles and large cellular structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Complement factor H polymorphism in 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=3554762

7 July 2018

Complement factor H polymorphism and 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=3554762

7 July 2018

Complement factor H variant increases the 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=3554762

7 July 2018

Common and cell type-specific responses of human cells to mitochondrial dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Effects of purifying and adaptive selection on regional variation in human mtDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Drusen proteome analysis: an approach to the etiology 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=3554762

7 July 2018

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and 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=3554762

7 July 2018

Complement activation and inflammatory processes in Drusen formation and 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=3554762

7 July 2018

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Mitochondrial DNA mutations in diseases of energy metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Diseases of the mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554762

7 July 2018

Nuclear gene expression changes due to mitochondrial dysfunction in ARPE-19 cells: implications for age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Human mitochondrial variants influence on oxygen consumption

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Complement factor H polymorphism in age-related macular degeneration.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054339

21 January 2018

Mitochondrial DNA haplogroups and age-related maculopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA haplogroup J: a contributing factor of optic neuritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA polymorphism: its role in longevity of the Irish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The expression of EFEMP1 in cervical carcinoma and its relationship with prognosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steady exercise removes VO(2max) difference between mitochondrial genomic variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement factor H polymorphisms in Japanese population with age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EFEMP1 expression promotes angiogenesis and accelerates the growth of cervical cancer in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/23365660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0054339

1 reference

Europe PubMed Central

3 August 2017

2013PLoSO...854339K

0 references

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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