Association of mitochondrial DNA variation with high myopia in a Han Chinese population
暂无分享,去创建一个
Shilai Xing | Jialei Yang | Yinghao Yao | Yunlong Ma | Siyu Wang | Jian Yuan | Jianzhong Su | Hui Peng | Peng Lin | H. Sun | Siyi Jiang | He Kong | Sheng Wang | Qingshi Bai | Ruowen Qiu | Wei Dai | Xiaoguang Yu
[1] Y. Zhang,et al. Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population , 2022, medRxiv.
[2] S. Saw,et al. The potential of current polygenic risk scores to predict high myopia and myopic macular degeneration in multi-ethnic Singapore adults. , 2022, Ophthalmology.
[3] Alena I. Kalyakulina,et al. Role of mitochondrial genetic interactions in determining adaptation to high altitude human population , 2022, Scientific Reports.
[4] Guohui Wang,et al. Advances in biomedical study of the myopia-related signaling pathways and mechanisms. , 2021, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.
[5] Yuqi Liu,et al. Protective Effect of Mitochondrial ND2 C5178A Gene Mutation on Cell and Mitochondrial Functions , 2021, Oxidative medicine and cellular longevity.
[6] S. Karthikeyan,et al. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank , 2021, Nature Genetics.
[7] Liang Xu,et al. COVID-19 Quarantine Reveals That Behavioral Changes Have an Effect on Myopia Progression , 2021, Ophthalmology (Rochester, Minn.).
[8] M. He,et al. Myopia , 2020, Nature Reviews Disease Primers.
[9] Timothy A Myers,et al. PCAmatchR: a flexible R package for optimal case-control matching using weighted principal components , 2020, Bioinform..
[10] R. Varma,et al. A Mitochondrial Genome-Wide Association Study of Cataract in a Latino Population , 2020, Translational vision science & technology.
[11] P. Chinnery,et al. Inheritance of mitochondrial DNA in humans: implications for rare and common diseases , 2020, Journal of internal medicine.
[12] Y. Kamatani,et al. Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population , 2020, Communications Biology.
[13] Shing Wan Choi,et al. PRSice-2: Polygenic Risk Score software for biobank-scale data , 2019, GigaScience.
[14] David L. Bennett,et al. Germline selection shapes human mitochondrial DNA diversity , 2019, Science.
[15] E. Topol,et al. The personal and clinical utility of polygenic risk scores , 2018, Nature Reviews Genetics.
[16] P. Chinnery,et al. Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations , 2017, PLoS genetics.
[17] Maojun Yang,et al. Architecture of Human Mitochondrial Respiratory Megacomplex I2III2IV2 , 2017, Cell.
[18] T. Bek. Mitochondrial dysfunction and diabetic retinopathy. , 2017, Mitochondrion.
[19] N. Newman,et al. Inherited eye-related disorders due to mitochondrial dysfunction , 2017, Human molecular genetics.
[20] Sheng Lin,et al. A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia. , 2017, Investigative ophthalmology & visual science.
[21] Xiaoling Liu,et al. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. , 2016, Human molecular genetics.
[22] Hans-Jürgen Bandelt,et al. HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing , 2016, Nucleic Acids Res..
[23] Xiaowei Zhan,et al. RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data , 2016, Bioinform..
[24] Navea Amparo,et al. Oxidative Stress in Myopia , 2015, Oxidative medicine and cellular longevity.
[25] Marcella Attimonelli,et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. , 2015, Molecular genetics and metabolism.
[26] Mahdi Sarmady,et al. mtDNA Variation and Analysis Using Mitomap and Mitomaster , 2013, Current protocols in bioinformatics.
[27] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[28] Yi-Ju Li,et al. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. , 2013, American journal of human genetics.
[29] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[30] S. Dimauro,et al. Human mitochondrial DNA: roles of inherited and somatic mutations , 2012, Nature Reviews Genetics.
[31] S. Rahman,et al. Complex I deficiency: clinical features, biochemistry and molecular genetics , 2012, Journal of Medical Genetics.
[32] Takeo Suzuki,et al. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. , 2011, Annual review of genetics.
[33] Dean Y. Li,et al. Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. , 2011, American journal of human genetics.
[34] Gonçalo R. Abecasis,et al. The variant call format and VCFtools , 2011, Bioinform..
[35] Xavier Robin,et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves , 2011, BMC Bioinformatics.
[36] P. Visscher,et al. GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.
[37] C. Cartiglia,et al. Mitochondrial damage in the trabecular meshwork of patients with glaucoma. , 2010, Archives of ophthalmology.
[38] K. Matsuo,et al. A Genome-Wide Association Analysis Identified a Novel Susceptible Locus for Pathological Myopia at 11q24.1 , 2009, PLoS genetics.
[39] J. Langberg,et al. Mitochondrial DNA haplogroups associated with age-related macular degeneration. , 2009, Investigative ophthalmology & visual science.
[40] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[41] Manfred Kayser,et al. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation , 2009, Human mutation.
[42] T. Spector,et al. Identification and Replication of Three Novel Myopia Common Susceptibility Gene Loci on Chromosome 3q26 using Linkage and Linkage Disequilibrium Mapping , 2008, PLoS genetics.
[43] P. Visscher,et al. Power and SNP tagging in whole mitochondrial genome association studies. , 2008, Genome research.
[44] P. Mitchell,et al. Mitochondrial DNA haplogroups and age-related maculopathy. , 2007, Archives of ophthalmology.
[45] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[46] Tsutomu Suzuki,et al. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. , 2006, Human molecular genetics.
[47] S. Saw,et al. Myopia and associated pathological complications , 2005, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.
[48] Conrad C. Huang,et al. UCSF Chimera—A visualization system for exploratory research and analysis , 2004, J. Comput. Chem..
[49] T. Kivisild,et al. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. , 2002, American journal of human genetics.
[50] N. Newman,et al. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families , 2001, Human Genetics.
[51] OUP accepted manuscript , 2021, Human Molecular Genetics.
[52] N. Charfi,et al. Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation. , 2017, Journal of diabetes and its complications.
[53] S. Dimauro,et al. Mitochondrial diseases , 2016, Nature Reviews Disease Primers.
[54] D. Turnbull,et al. Analysis of European mtDNAs for recombination. , 2001, American journal of human genetics.
[55] A. Torroni,et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations , 1995, Human mutation.