HETEROPLASMY

作品数:10被引量:36H指数:4
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相关领域:医药卫生更多>>
相关期刊:《Open Journal of Genetics》《Avian Research》《World Journal of Clinical Cases》《Chinese Medical Journal》更多>>
相关基金:国家自然科学基金更多>>
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Ovarian Tumors in Senegalese Women: Impact of D-Loop Mutations between Healthy and Cancerous Tissues
《Open Journal of Genetics》2024年第2期37-46,共10页Rouguiyatou Ka Fatimata Mbaye Bineta Kénéme Mbacké Sembène 
In Senegal in particular, ovarian cancer, which is one of the most common gynecological cancers, accounts for 2.8% of deaths. The most important risk factor is genetic, with 10% of cases occurring in a context of gene...
关键词:OVARIAN Cancer MUTATIONS D-LOOP HETEROPLASMY 
First evidence of heteroplasmy in Grey Partridge(Perdix perdix)
《Avian Research》2020年第3期363-365,共3页Claudia Pizzirani Paolo Viola Federica Gabbianelli Anna Fagotti Francesca Simoncelli Ines Di Rosa Paolo Salvi Andrea Amici Livia Lucentini 
We report for the first time the occurrence of heteroplasmy in Grey Partridge(Perdix perdix)revealed by means of two mitochondrial fragments.The possible serious biological and management implications of this exceptio...
关键词:GALLIFORMES Grey Partridge HETEROPLASMY HYBRIDIZATION Perdix perdix 
Cluster headache as a manifestation of a stroke-like episode in a carrier of the MT-ND3 variant m.10158T>C被引量:1
《World Journal of Clinical Cases》2020年第1期242-244,共3页Josef Finsterer 
In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3.The study has a number of shortcomings.The study would par...
关键词:HETEROPLASMY mtDNA Oxidative phosphorylation Stroke-like episode 
Biased heteroplasmy within the mitogenomic sequences of Gigantometra gigas revealed by sanger and high-throughput methods
《Zoological Systematics》2018年第4期356-386,共31页Xiaoya Sun Yanhui Wang Pingping Chen Hesheng Wang Lixiang Lu Zhen Ye Yanzhuo Wu Teng Li Wenjun Bu Qiang Xie 
supported by the National Natural Science Foundation of China(31222051)
Few studies have explored the differences between Sanger and HTS methods in the results of mitogenome sequencing. We used a single individual of insect to study the differences between the sequences given by Sanger an...
关键词:Sanger and high-throughput sequencing MITOGENOME coxl CO1 heteroplasmy giant water strider 
Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A〉G Mutation in Mitochondrial DNA被引量:4
《Chinese Medical Journal》2016年第16期1945-1949,共5页Chang-Yu Xia Yu Liu Hui Liu Yan-Chun Zhang Yi-Nan Ma Yu Qi 
This study was supported by grants from National Natural Science Foundation of China (No. 81271256 and No. 81471153) and the Capital Characteristic Clinical Application Research Projects (No. Z 1311070022 13062).
Background: Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements. Variable clinical features present a major challenge in pediatric diagnoses. We summarized the clinical spec...
关键词:Clinical Symptom HETEROPLASMY Mitochondrial A3243G Mutation Mitochondrial Disease 
Very Low-Level Heteroplasmy mtDNA Variations Are Inherited in Humans被引量:5
《Journal of Genetics and Genomics》2013年第12期607-615,共9页Yan Guo Chung-I Li Quanhu Sheng Jeanette F.Winther Qiuyin Cai John D.Boice Yu Shyr 
supported by the grant from the National Cancer Institute(RO1 CA104666);supported in part by the Vanderbilt-Ingram Cancer Center(P30 CA68485)
Little is known about the inheritance of very low heteroplasmy mitochondria DNA (mtDNA) variations. Even with the development of new next-generation sequencing methods, the practical lower limit of measured heteropl...
关键词:Maternal inheritance Next-generation sequencing High-depth sequencing HETEROPLASMY mtDNA mutations BOTTLENECK 
Association of the level of heteroplasmy of the 15059G>A mutation in the MT-CYB mitochondrial gene with essential hypertension被引量:3
《World Journal of Cardiology》2013年第5期132-140,共9页Igor A Sobenin Dimitry A Chistiakov Margarita A Sazonova Maria M Ivanova Yuri V Bobryshev Alexander N Orekhov Anton Y Postnov 
Supported by The Russian Ministry of Science and Education
AIM: To examine whether the heteroplasmy level for 15059G>A mutation in the mitochondrial genome might be associated with essential hypertension. METHODS: This cross-sectional study involved 196 unrelated participa...
关键词:Essential hypertension HETEROPLASMY Mi-tochondrial DNA 15059G>A mutation 
Mitochondrial dysfunction and mitochondrial DNA mutations in atherosclerotic complications in diabetes被引量:17
《World Journal of Cardiology》2012年第5期148-156,共9页Dimitry A Chistiakov Igor A Sobenin Yuri V Bobryshev Alexander N Orekhov 
Supported by The Russian Ministry of Science and Education
Mitochondrial DNA(mtDNA) is particularly prone to oxidation due to the lack of histones and a deficient mismatch repair system.This explains an increased mutation rate of mtDNA that results in heteroplasmy,e.g.,the co...
关键词:MITOCHONDRIAL DNA Mutation HETEROPLASMY ATHEROSCLEROSIS DIABETES Oxidative stress ULTRASTRUCTURE 
Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups被引量:1
《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2009年第10期711-720,共10页Feng CHEN Yong-hui DANG Chun-xia YAN Yan-ling LIU Ya-jun DENG David J. R. FULTON Teng CHEN 
supported by the Sciences and Technological Fundamental Resources Data of the Ministry of Education, China (No. 505015);the Key Project for Science and Technology of Shaanxi Province, China (No. 2004K09-G12)
The purpose of this study was to investigate mitochondrial DNA (mtDNA) hypervariable segment-I (HVS-I) C-stretch variations and explore the significance of these variations in forensic and population genetics studies....
关键词:Mitochondrial DNA (mtDNA) Clone sequencing Length heteroplasmy Population genetics 
Heteroplasmy Level of the Mitochondrial tRNA^(Leu(UUR)) A3243G Mutation in a Chinese Family Is Positively Associated with Earlier Age-of-onset and Increasing Severity of Diabetes被引量:5
《Chinese Medical Sciences Journal》2009年第1期20-25,共6页Shi Zhang An-li Tong Yun Zhang Min Nie Yu-xiu Li Heng Wang 
Objective To investigate the mutations of mitochondrial genome in a pedigree with suspected maternally inherited diabetes and deafness and to explore the correlations between the mutations and clinical features. Meth...
关键词:maternally inherited diabetes and deafness tRNA^Lcu(UUR) A3243G mutation beteroplasmy 
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