Analysis of mitochondrial DNA variations in Indian patients with congenital cataract (Q28396290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312186%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Analysis of mitochondrial DNA variations in Indian patients with congenital cataract (English)

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22 January 2020

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Mascarenhas Roshan

1

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22 January 2020

Shama Prasada Kabekkodu

2

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22 January 2020

Pai H Vijaya

3

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22 January 2020

Kamath Manjunath

4

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22 January 2020

Jochen Graw

5

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22 January 2020

P M Gopinath

6

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22 January 2020

Kapeattu Satyamoorthy

7

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22 January 2020

language of work or name

English

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publication date

24 January 2012

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22 January 2020

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22 January 2020

volume

18

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22 January 2020

page(s)

181-193

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Mitochondrial tRNA mutations and disease

22 January 2020

cites work

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Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

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Genotyping Parkinson disease-associated mitochondrial polymorphism

19 March 2017

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Reconstructing the origin of Andaman Islanders

19 March 2017

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Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia

19 March 2017

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Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

19 March 2017

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Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences

19 March 2017

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Natural selection shaped regional mtDNA variation in humans

19 March 2017

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Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

19 March 2017

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A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

19 March 2017

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Mitochondrial genome variation and the origin of modern humans

19 March 2017

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

19 March 2017

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Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

19 March 2017

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Sequence and organization of the human mitochondrial genome

19 March 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

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Mitochondrial DNA sequence variation and risk of pancreatic cancer

19 March 2017

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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

29 September 2017

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The importance of mitochondria in age-related and inherited eye disorders.

29 September 2017

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A novel human CRYGD mutation in a juvenile autosomal dominant cataract

29 September 2017

1 reference

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Mitochondrial DNA analysis in primary congenital glaucoma

29 September 2017

1 reference

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Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?

29 September 2017

1 reference

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Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder

29 September 2017

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mtDNA sequence variants in subtypes of epithelial ovarian cancer stages in relation to ethnic and age difference

29 September 2017

1 reference

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Congenital cataracts and their molecular genetics

29 September 2017

1 reference

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Crystallins in the eye: Function and pathology

29 September 2017

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Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer.

29 September 2017

1 reference

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Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics

29 September 2017

1 reference

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Cellular debris and ROS in age-related cortical cataract are caused by inappropriate involution of the surface epithelial cells into the lens cortex.

29 September 2017

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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

29 September 2017

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alpha-crystallin: a review of its structure and function

29 September 2017

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Causative and preventive action of calcium in cataracto-genesis.

29 September 2017

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Ageing and vision: structure, stability and function of lens crystallins

29 September 2017

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Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

29 September 2017

1 reference

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Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

29 September 2017

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Mitochondrial DNA polymorphisms in bipolar disorder

29 September 2017

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Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

29 September 2017

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Mitochondrial DNA analysis: polymorphisms and pathogenicity

29 September 2017

1 reference

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Clinical and genetic heterogeneity in autosomal dominant cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

29 September 2017

1 reference

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Mitochondrial disorders: clinical and genetic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Lens crystallins: the evolution and expression of proteins for a highly specialized tissue

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Autosomal dominant congenital cataract. Interocular phenotypic variability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Point mutations of mitochondrial genome in Parkinson's disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India

2 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272057

Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.

27 November 2018

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Novel mitochondrial DNA mutations implicated in Noonan syndrome

27 November 2018

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A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population

27 November 2018

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Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women.

27 November 2018

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Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.

27 November 2018

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Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

27 November 2018

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Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

27 November 2018

1 reference

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Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder

27 November 2018

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Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

27 November 2018

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Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

27 November 2018

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Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency

27 November 2018

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12 December 2020

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion

1 reference

12 December 2020

Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome

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12 December 2020

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

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12 December 2020

Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women

1 reference

12 December 2020

New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes

1 reference

12 December 2020

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

1 reference

12 December 2020

Analysis of mitochondrial gene mutations in Chinese pedigrees of Leber's hereditary optic neuropathy

1 reference

12 December 2020

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22312186%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

22312186

1 reference