Associated Papers
Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts.
Fernandes P et al.
International Journal of Molecular Sciences, 2025
Mitochondrial tRNAGlu 14687A>G May Be A Novel Mutation for Type 2 Diabetes Mellitus.
Rao X et al.
Journal of Clinical Laboratory Analysis, 2025
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Mertens J et al.
Nature Communications, 2024
The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.
Wei R et al.
Hgg Advances, 2023
Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
Wang Y et al.
Nature Communications, 2022
Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer.
Zhao Q et al.
Nature Communications, 2022
Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders.
Wang Y et al.
Bmc Pulmonary Medicine, 2022
Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations.
Li D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2017
Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer.
Koshikawa N et al.
Scientific Reports, 2017
Mutations in the Mitochondrial ND1 Gene Are Associated with Postoperative Prognosis of Localized Renal Cell Carcinoma.
Kim H et al.
International Journal of Molecular Sciences, 2016
Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.
Ji Y et al.
Investigative Ophthalmology & Visual Science, 2016
Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.
Levin L et al.
Genome Biology and Evolution, 2013
[A clinical study of Leber hereditary optic neuropathy].
Wei QP et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy.
Yu D et al.
Neurogenetics, 2010
Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
Tong Y et al.
Molecular Genetics and Metabolism, 2010
[Evaluation of serum levels of SOD and MDA in patients with Leber's hereditary optic neuropathy carrying the mitochondrial DNA G11778A mutation].
Liu Z et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
Qu J et al.
Ophthalmology, 2009
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.
Cai W et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2008
[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].
Tong Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
Chen J et al.
Mitochondrion, 2008
[The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].
Mao YJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families].
Zhao FX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics.
Kazuno AA et al.
Plos Genetics, 2006
[Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood].
Yang JH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese.
Tanaka M et al.
Annals of the New York Academy of Sciences, 2004
Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach.
Wong LJ
Annals of the New York Academy of Sciences, 2004
Comprehensive scanning of the entire mitochondrial genome for mutations.
Wong LJ et al.
Clinical Chemistry, 2002