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Results: 437
Pathogenic variants in MT-ATP6
Yi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, Alasdair Blain, Enrico Bugiardini, Apphia Bunting, Andrew M Schaefer, Charlotte L Alston, Emma L Blakely, Sunil Sharma, Imelda Hughes, Albert Lim, Christian de Goede, Meriel McEntagart, Stefan Spinty, Iain Horrocks, Mark Roberts, Cathy E Woodward, Patrick F Chinnery, Rita Horvath, Victoria Nesbitt, Carl Fratter, Joanna Poulton, Michael G Hanna, Robert DS Pitceathly, Robert W Taylor, Doug M Turnbull, Robert McFarland
Jun 28, 2019
Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers....
MT-HESS
Alex Lewin, Habib Saadi, James E Peters, Aida Moreno-Moral, James C Lee, Kenneth GC Smith, Enrico Petretto, Leonardo Bottolo, Sylvia Richardson
Sep 05, 2018
MOTIVATION: Analysing the joint association between a large set of responses and predictors is a fundamental statistical task in integrative genomics, exemplified by numerous expression Quantitative Trait Loci (eQTL) studies. Of...
Algorithms Animals Bayes Theorem Diabetes mellitus Type 1 Gene Expression Regulation Gene Regulatory Networks Genomics Humans Inflammation Inflammatory Bowel Diseases Models Theoretical Organ Specificity Polymorphism Single Nucleotide Programming Languages Quantitative Trait Loci Rats Software Tissue Distribution
Designing Controlled Chinese Rules for MT Pre-Editing of Product Description Text
The study aims to investigate how pre-editing based on controlled Chinese rules can be an effective approach to improving Chinese-to-English machine translation (MT) output. Based on the analysis of comparable texts, and by...
Published by: IGI Global Scientific Publishing
Pathogenic mtDNA mutations causing mitochondrial myopathy
Steven A Hardy, Emma L Blakely, Andrew I Purvis, Mariana C Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F Dougan, Yi Shiau Ng, Rita Horvath, Doug M Turnbull, Grainne S Gorman, Robert W Taylor
Oct 01, 2019
Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common...
Ion-Pair-Directed Borylation of Aromatic Phosphonium Salts.
Control of positional selectivity in C-H activation reactions remains a challenge for synthetic chemists. Noncovalent catalysis has the potential to be a powerful strategy to address this challenge. As a part of our ongoing...
Metallothionein-I/II expression associates with the astrocyte DNA damage response and not Alzheimer-type pathology in the ageing brain
CEG Brayne, Rachel Waller, Mark Murphy, Claire J Garwood, Luke Jennings, Paul R Heath, Annabelle Chambers, Fiona E Matthews, Paul G Ince, Stephen B Wharton, Julie E Simpson
Oct 04, 2018
Oxidative stress and oxidative DNA damage are early features of mild cognitive impairment and Alzheimer’s disease (AD), occurring before the formation of classical AD neuropathology, and resulting from an imbalance between pro-...
Para-Selective C-H Borylation of Common Arene Building Blocks Enabled by Ion-Pairing with a Bulky Countercation.
The selective functionalization of C-H bonds at the arene para position is highly challenging using transition metal catalysis. Iridium-catalyzed borylation has emerged as a leading technique for arene functionalization, but...
Perceptions of Machine Translation and Computer-Aided Translation by Professionals and the General Public
This article examines perceptions of MT and CAT among translation professionals and the general public by surveying 124 articles published in the professional journals of ITI Bulletin and MultiLingual and in the Chinese media...
Published by: IGI Global Scientific Publishing
Mytilus trossulus introgression and consequences for shell traits in longline cultivated mussels.
Kati Michalek, David LJ Vendrami, Michaël Bekaert, David H Green, Kim S Last, Luca Telesca, Thomas A Wilding, Joseph I Hoffman
Aug 26, 2021
Mussels belonging to the Mytilus species complex (M. edulis, ME; M. galloprovincialis, MG; and M. trossulus, MT) often occur in sympatry, facilitating introgressive hybridization. This may be further promoted by mussel...
An MBO scheme for clustering and semi-supervised clustering of signed networks
We introduce a principled method for the signed clustering problem, where the goal is to partition a weighted undirected graph whose edge weights take both positive and negative values, such that edges within the same cluster...
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry GJ Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger JM Pruijn, Pedro F Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H Schoots, Jan A Smeitink, Maciej J Szukszto, Hendrik J Ter Horst, Frans van den Brandt, Francjan J van Spronsen, Joris A Veltman, Eric Wartchow, Liesbeth T Wintjes, Yaniv Zohar, Miguel A Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J Rodenburg, Johan LK Van Hove
Dec 07, 2018
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a...
Amino Acid Sequence Cardiomyopathies Female FIBROBLASTS Humans Infant Infant Newborn Lentivirus Male Mitochondrial Diseases Models Molecular Mutation Myocardium Nitrogenous Group Transferases Oxidative Phosphorylation Pedigree Protein Biosynthesis Protein Subunits RNA Transfer Saccharomyces cerevisiae
Mytilus trossulus introgression and consequences for shell traits in longline cultivated mussels
Kati Michalek, David L. J. Vendrami, Michaël Bekaert, David H. Green, Kim S. Last, Luca Telesca, Thomas A. Wilding, Joseph I. Hoffman
May 11, 2021
Abstract: Mussels belonging to the Mytilus species complex (M. edulis, ME; M. galloprovincialis, MG; and M. trossulus, MT) often occur in sympatry, facilitating introgressive hybridization. This may be further promoted by mussel...
Original Article Original Articles geometric morphometrics introgressive hybridization Me15/16 Mytilus edulis species complex shellfish aquaculture single nucleotide polymorphism
Published by: Evolutionary Applications
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
Elena Perli, Carla Giordano, Annalinda Pisano, Arianna Montanari, Antonio F Campese, Aurelio Reyes, Daniele Ghezzi, Alessia Nasca, Helen A Tuppen, Maurizia Orlandi, Patrizio Di Micco, Elena Poser, Robert W Taylor, Gianni Colotti, Silvia Francisci, Veronica Morea, Laura Frontali, Massimo Zeviani, Giulia D'Amati
Nov 09, 2017
Mitochondrial (mt) diseases are multisystem disorders due to mutations in nuclear or mtDNA genes. Among the latter, more than 50% are located in transfer RNA (tRNA) genes and are responsible for a wide range of syndromes, for...
A computational model predicts Xenopus meiotic spindle organization.
The metaphase spindle is a dynamic bipolar structure crucial for proper chromosome segregation, but how microtubules (MTs) are organized within the bipolar architecture remains controversial. To explore MT organization along the...
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
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 GJ 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 DS Pitceathly, Robert McFarland, Gráinne S Gorman
Oct 10, 2018
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...
heteroplasmy Lactic acidosis and stroke-like episodes (MELAS) Leigh syndrome (LS) Mitochondrial DNA Mitochondrial encephalomyopathy neuropathology Adolescent Adult Brain Child Cohort Studies Electron Transport Complex I Female Humans Magnetic Resonance Imaging Male Mitochondrial Proteins Mutation Syndrome Young Adult
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.
Aldi T Kraja, Chunyu Liu, Jessica L Fetterman, Mariaelisa Graff, Christian Theil Have, Charles Gu, Lisa R Yanek, Mary F Feitosa, Dan E Arking, Daniel I Chasman, Kristin Young, Symen Ligthart, W David Hill, Stefan Weiss, Jian'an Luan, Franco Giulianini, Ruifang Li-Gao, Fernando P Hartwig, Shiow J Lin, Lihua Wang, Tom G Richardson, Jie Yao, Eliana P Fernandez, Mohsen Ghanbari, Mary K Wojczynski, Wen-Jane Lee, Maria Argos, Sebastian M Armasu, Ruteja A Barve, Kathleen A Ryan, Ping An, Thomas J Baranski, Suzette J Bielinski, Donald W Bowden, Ulrich Broeckel, Kaare Christensen, Audrey Y Chu, Janie Corley, Simon R Cox, Andre G Uitterlinden, Fernando Rivadeneira, Cheryl D Cropp, E Warwick Daw, Diana van Heemst, Lisa de Las Fuentes, He Gao, Ioanna Tzoulaki, Tarunveer S Ahluwalia, Renée de Mutsert, Leslie S Emery, A Mesut Erzurumluoglu, James A Perry, Mao Fu, Nita G Forouhi, Zhenglong Gu, Yang Hai, Sarah E Harris, Gibran Hemani, Steven C Hunt, Marguerite R Irvin, Anna E Jonsson, Anne E Justice, Nicola D Kerrison, Nicholas B Larson, Keng-Hung Lin, Latisha D Love-Gregory, Rasika A Mathias, Joseph H Lee, Matthias Nauck, Raymond Noordam, Ken K Ong, James Pankow, Amit Patki, Alison Pattie, Astrid Petersmann, Qibin Qi, Rasmus Ribel-Madsen, Rebecca Rohde, Kevin Sandow, Theresia M Schnurr, Tamar Sofer, John M Starr, Adele M Taylor, Alexander Teumer, Nicholas J Timpson, Hugoline G de Haan, Yujie Wang, Peter E Weeke, Christine Williams, Hongsheng Wu, Wei Yang, Donglin Zeng, Daniel R Witte, Bruce S Weir, Nicholas J Wareham, Henrik Vestergaard, Stephen T Turner, Christian Torp-Pedersen, Evie Stergiakouli, Wayne Huey-Herng Sheu, Frits R Rosendaal, M Arfan Ikram, Oscar H Franco, Paul M Ridker, Thomas T Perls, Oluf Pedersen, Ellen A Nohr, Anne B Newman, Allan Linneberg, Claudia Langenberg, Tuomas O Kilpeläinen, Sharon LR Kardia, Marit E Jørgensen, Torben Jørgensen, Thorkild IA Sørensen, Georg Homuth, Torben Hansen, Mark O Goodarzi, Ian J Deary, Cramer Christensen, Yii-Der Ida Chen, Aravinda Chakravarti, Ivan Brandslund, Klaus Bonnelykke, Kent D Taylor, James G Wilson, Santiago Rodriguez, Gail Davies, Bernardo L Horta, Bharat Thyagarajan, DC Rao, Niels Grarup, Victor G Davila-Roman, Gavin Hudson, Xiuqing Guo, Donna K Arnett, Caroline Hayward, Dhananjay Vaidya, Dennis O Mook-Kanamori, Hemant K Tiwari, Daniel Levy, Ruth JF Loos, Abbas Dehghan, Paul Elliott, Afshan N Malik, Robert A Scott, Diane M Becker, Mariza de Andrade, Michael A Province, James B Meigs, Jerome I Rotter, Kari E North
Feb 07, 2019
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear genes (MT-nDNA). In the CHARGEmtDNA+ Consortium, we studied genetic...
BMI HOMA-B HOMA-IR HbA1c MT-nDNA candidate genes Glucose Insulin Mitochondria mtDNA waist-to-hip ratio Adipocytes Body Mass Index Cardiovascular Diseases Cohort Studies DNA Mitochondrial Diabetes mellitus Genes Mitochondrial genetic variation Glucose Glycated Hemoglobin Humans Insulin metabolism Mitochondria Quantitative Trait Loci Waist-Hip Ratio
Training School Teachers to Deliver a Mindfulness Program
PhD, Catherine Crane, PhD, Poushali Ganguli, MSc, Susan Ball, PhD, Laura Taylor, PhD, Sarah-Jayne Blakemore, PhD, Sarah Byford, PhD, Tim Dalgleish, PhD, Tamsin Ford, PhD, Mark Greenberg, PhD, Willem Kuyken, MA, Liz Lord, PhD, Jesus Montero-Marin, MEd, Anna Sonley, PhD, Obioha C Ukoumunne, PhD, J Mark G Williams
Dec 22, 2020
Background: There is growing research support for the use of mindfulness training (MT) in schools, but almost no high-quality evidence about different training models for people wishing to teach mindfulness in this setting....
Training School Teachers to Deliver a Mindfulness Program
Catherine Crane PhD, Poushali Ganguli PhD, Susan Ball MSc, Laura Taylor PhD, Sarah-Jayne Blakemore PhD, Sarah Byford PhD, Tim Dalgleish PhD, Tamsin Ford PhD, Mark Greenberg PhD, Willem Kuyken PhD, Liz Lord Ma, Jesus Montero-Marin PhD, Anna Sonley MEd, Obioha C Ukoumunne PhD, J Mark G Williams PhD
Jan 25, 2021
BACKGROUND: There is growing research support for the use of mindfulness training (MT) in schools, but almost no high-quality evidence about different training models for people wishing to teach mindfulness in this setting....
Evaluation of the brain-penetrant microtubule-stabilizing agent, dictyostatin, in the PS19 tau transgenic mouse model of tauopathy.
Vishruti Makani, Bin Zhang, Heeoon Han, Yuemang Yao, Pierrik Lassalas, Kevin Lou, Ian Paterson, Virginia MY Lee, John Q Trojanowski, Carlo Ballatore, Amos B Smith, Kurt R Brunden
Sep 08, 2018
Neurodegenerative disorders referred to as tauopathies, which includes Alzheimer's disease (AD), are characterized by insoluble deposits of the tau protein within neuron cell bodies and dendritic processes in the brain. Tau is...
The impact of mindfulness training in early adolescence on affective executive control, and on later mental health during the COVID-19 pandemic
Darren Dunning, S Ahmed, L Foulkes, C Griffin, K Griffiths, JT Leung, J Parker, Blanca Piera Pi-Sunyer, A Sakhardande, M Bennett, C Haag, Jesus Montero-Marin, D Packman, Maris Vainre, P Watson, MYRIAD team, Willem Kuyken, J Mark G Williams, Obioha C Ukoumunne, Sarah-Jayne Blakemore, Tim Dalgleish, MYRIAD Team Group
Aug 08, 2022
BACKGROUND: Previous research suggests that mindfulness training (MT) appears effective at improving mental health in young people. MT is proposed to work through improving executive control in affectively laden contexts....
Artificial Intelligence in Education
Linda Alkhawaja
Jan 01, 2023
Despite its controversial nature, machine translation (MT) has been increasingly integrated into learning in the past decade. This controversy arises from two different beliefs. While some believe that MT negatively impacts...
Published by: IGI Global Scientific Publishing
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