Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand (Q34111207)

31 July 2017

title

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand (English)

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genome-wide association study

31 July 2017

main subject

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Thailand

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author

Chayanon Peerapittayamongkol

Surakameth Mahasirimongkol

14

object named as

Chayanon Peerapittayamongkol

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10

object named as

Surakameth Mahasirimongkol

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author name string

Nopasak Phasukkijwatana

1

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31 July 2017

Bussaraporn Kunhapan

2

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31 July 2017

Jim Stankovich

3

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31 July 2017

Wanicha L Chuenkongkaew

4

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31 July 2017

Russell Thomson

5

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31 July 2017

Timothy Thornton

6

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31 July 2017

Melanie Bahlo

7

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31 July 2017

Taisei Mushiroda

8

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31 July 2017

Yusuke Nakamura

9

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31 July 2017

Surakameth Mahasirimongkol

10

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31 July 2017

Aung Win Tun

11

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31 July 2017

Chatchawan Srisawat

12

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31 July 2017

Chanin Limwongse

13

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31 July 2017

Chayanon Peerapittayamongkol

14

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31 July 2017

Thanyachai Sura

15

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31 July 2017

Wichit Suthammarak

16

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Patcharee Lertrit

17

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31 July 2017

publication date

21 April 2010

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31 July 2017

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31 July 2017

volume

128

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31 July 2017

issue

1

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31 July 2017

page(s)

39-49

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The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

31 July 2017

cites work

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

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12 December 2020

Gene-environment interactions in Leber hereditary optic neuropathy

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12 December 2020

A high-throughput SNP typing system for genome-wide association studies

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Leber hereditary optic neuropathy

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12 December 2020

The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees

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12 December 2020

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

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12 December 2020

Systematic identification of human mitochondrial disease genes through integrative genomics

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12 December 2020

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation

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12 December 2020

Normal mitochondrial dynamics requires rhomboid-7 and affects Drosophila lifespan and neuronal function

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12 December 2020

A cut short to death: Parl and Opa1 in the regulation of mitochondrial morphology and apoptosis

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12 December 2020

Allegro, a new computer program for multipoint linkage analysis

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA

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12 December 2020

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Genetic variation in PARL influences mitochondrial content

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Phosphorylation and cleavage of presenilin-associated rhomboid-like protein (PARL) promotes changes in mitochondrial morphology

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12 December 2020

Statistical tests for detection of misspecified relationships by use of genome-screen data

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12 December 2020

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy

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12 December 2020

New insights into mitochondrial fusion

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12 December 2020

Maintaining the brain: insight into human neurodegeneration from Drosophila melanogaster mutants

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12 December 2020

Allele-sharing models: LOD scores and accurate linkage tests

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12 December 2020

Nova regulates GABA(A) receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer

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12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Haploview: analysis and visualization of LD and haplotype maps

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Optimal allele-sharing statistics for genetic mapping using affected relatives

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

The splice of life: alternative splicing and neurological disease

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Identification of cis-acting elements involved in an alternative splicing of the amyloid precursor protein (APP) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Mitochondria: dynamic organelles in disease, aging, and development

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

The epidemiology of Leber hereditary optic neuropathy in the North East of England

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Best linear unbiased allele-frequency estimation in complex pedigrees

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve

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https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

OPA1 and PARL keep a lid on apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Case-control association testing with related individuals: a more powerful quasi-likelihood score test

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

OPA1 expression in the normal rat retina and optic nerve

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20407791

12 December 2020

10.1007/S00439-010-0821-8

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

1020422959

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