نتایج جستجو برای: nd4l gene

تعداد نتایج: 1141383  

2014
Hiroko Shimbo Mariko Takagi Mitsuko Okuda Yu Tsuyusaki Kyoko Takano Mizue Iai Sumimasa Yamashita Kei Murayama Akira Ohtake Yu-ichi Goto Noriko Aida Hitoshi Osaka

Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1-ND6, and ND4L), IV(SURF1), and V(ATP6) and the pyruvate dehydrogenase E1α-subunit. Of 18 LS patients, we identified mutations in 11 pati...

2016
Federico Plazzi Guglielmo Puccio Marco Passamonti

Despite the figure of complete bivalve mitochondrial genomes keeps growing, an assessment of the general features of these genomes in a phylogenetic framework is still lacking, despite the fact that bivalve mitochondrial genomes are unusual under different aspects. In this work, we constructed a dataset of one hundred mitochondrial genomes of bivalves to perform the first systematic comparative...

2012
Qin Ping Zhao Ming Sen Jiang Hui Fen Dong Pin Nie

BACKGROUND Schistosoma japonicum still causes severe parasitic disease in mainland China, but mainly in areas along the Yangtze River. However, the genetic diversity in populations of S. japonicum has not been well understood across its geographical distribution, and such data may provide insights into the epidemiology and possible control strategies for schistosomiasis. METHODOLOGY/PRINCIPAL...

2018
Leonardo Caporali Luisa Iommarini Chiara La Morgia Anna Olivieri Alessandro Achilli Alessandra Maresca Maria Lucia Valentino Mariantonietta Capristo Francesca Tagliavini Valentina Del Dotto Claudia Zanna Rocco Liguori Piero Barboni Michele Carbonelli Veronica Cocetta Monica Montopoli Andrea Martinuzzi Giovanna Cenacchi Giuseppe De Michele Francesco Testa Anna Nesti Francesca Simonelli Anna Maria Porcelli Antonio Torroni Valerio Carelli

We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited a...

2014
Mohammad Hossein Salehi Behnam Kamalidehghan Massoud Houshmand Goh Yong Meng Majid Sadeghizadeh Omid Aryani Shahriar Nafissi

Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. The number of repeats correlates with disease severity, where impaired transcription of the FXN gene results in reduced expression of the frataxin protein....

Journal: :Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2013
Thais F Bartelli Renata C Ferreira Arnaldo L Colombo Marcelo R S Briones

The opportunistic fungal pathogen Candida albicans causes serious hematogenic hospital acquired candidiasis with worldwide impact on public health. Because of its importance as a nosocomial etiologic agent, C. albicans genome has been largely studied to identify intraspecific variation and several typing methods have been developed to distinguish closely related strains. Mitochondrial DNA can b...

2014
Antònia Flaquer Clemens Baumbach Jennifer Kriebel Thomas Meitinger Annette Peters Melanie Waldenberger Harald Grallert Konstantin Strauch

It has been suggested that mitochondrial dysfunction plays a role in metabolic disorders including obesity, diabetes, and hypertension. The fact that mitochondrial defects can be accumulated over time as a normal part of aging may explain why some individuals can eat all sorts of foods and remain at normal weight while they are young. However, around the fourth decade of life there is a trend t...

Journal: :Journal of experimental zoology. Part B, Molecular and developmental evolution 2007
Richard L Mayden Kevin L Tang Kevin W Conway Jörg Freyhof Sarah Chamberlain Miranda Haskins Leah Schneider Mitchell Sudkamp Robert M Wood Mary Agnew Angelo Bufalino Zohrah Sulaiman Masaki Miya Kenji Saitoh Shunping He

The evolutionary relationships of species of Danio and the monophyly and phylogenetic placement of the genus within the family Cyprinidae and subfamily Rasborinae provide fundamentally important phyloinformatics necessary for direct evaluations of an array of pertinent questions in modern comparative biology. Although the genus Danio is not one of the most diverse within the family, Danio rerio...

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