نتایج جستجو برای: ژن nd5

تعداد نتایج: 16037  

Journal: :EBioMedicine 2018
Yi Shiau Ng Nichola Z Lax Paul Maddison Charlotte L Alston Emma L Blakely Philippa D Hepplewhite Gillian Riordan Surita Meldau Patrick F Chinnery Germaine Pierre Efstathia Chronopoulou Ailian Du Imelda Hughes Andrew A Morris Smaragda Kamakari Georgia Chrousos Richard J Rodenburg Christiaan G J Saris Catherine Feeney Steven A Hardy Takafumi Sakakibara Akira Sudo Yasushi Okazaki Kei Murayama Helen Mundy Michael G Hanna Akira Ohtake Andrew M Schaefer Mike P Champion Doug M Turnbull Robert W Taylor Robert D S Pitceathly Robert McFarland Gráinne S Gorman

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients m...

Journal: :The Journal of biological chemistry 2007
Matthew McKenzie Danae Liolitsa Natalya Akinshina Michelangelo Campanella Sanjay Sisodiya Ian Hargreaves Niranjanan Nirmalananthan Mary G Sweeney Patrick M Abou-Sleiman Nicholas W Wood Michael G Hanna Michael R Duchen

Mitochondrial encephalomyopathy and lactic acidosis with strokelike episodes (MELAS) is a severe young onset stroke disorder without effective treatment. We have identified a MELAS patient harboring a 13528A-->G mitochondrial DNA (mtDNA) mutation in the Complex I ND5 gene. This mutation was homoplasmic in mtDNA from patient muscle and nearly homoplasmic (99.9%) in blood. Fibroblasts from the pa...

2015
Hezhi Fang Hao Shi Xiyuan Li Dayan Sun Fengjie Li Bin Li Yuan Ding Yanyan Ma Yupeng Liu Yao Zhang Lijun Shen Yidong Bai Yanling Yang Jianxin Lu

The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with OXPHOS deficiency were screened for mutations. Mitochondrial functional analysis was then performed in primary and cybrid cells containing candidate mutations identified during the screening. A nove...

2017
Chaochao Yan Biqin Mou Yang Meng Feiyun Tu Zhenxin Fan Megan Price Bisong Yue Xiuyue Zhang

The lineage of the Bar-backed Partridge (Arborophila brunneopectus) was investigated to determine the phylogenetic relationships within Arborophila as the species is centrally distributed within an area covered by the distributions of 22 South-east Asian hill partridge species. The complete mitochondrial genome (mitogenome) of A. brunneopectus was determined and compared with four other hill pa...

2017
Juan Wang Li Zhang Qi-Lin Zhang Min-Qiang Zhou Xiao-Tong Wang Xing-Zhuo Yang Ming-Long Yuan

The family Miridae is one of the most species-rich families of insects. To better understand the diversity and evolution of mirids, we determined the mitogenome of Lygus pratenszs and re-sequenced the mitogenomes of four mirids (i.e., Apolygus lucorum, Adelphocoris suturalis, Ade. fasciaticollis and Ade. lineolatus). We performed a comparative analysis for 15 mitogenomic sequences representing ...

Journal: :Revista Brasileira De Entomologia 2021

The interest in and use of Aedes (Stegomyia) aegypti (Linnaeus) (Diptera: Culicidae) insectary lines increased most laboratories around the world since recognition transmission human animal pathogens by this mosquito species, resulting further scientific research on tropical diseases vectors, development chemical biological products for populations control. In recent years, approaches to reduct...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید