Results 321 to 330 of about 10,781,581 (397)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Endogenous retroviral solo-LTRs in human genome. [PDF]

Front Genet
Chen M, Huang X, Wang C, Wang S, Jia L, Li L.   +5 more
europepmc   +1 more source

Genome sequence of the human malaria parasite Plasmodium falciparum

Nature, 2002
M. Gardner, N. Hall, E. Fung, O. White, M. Berriman, R. Hyman, J. Carlton, A. Pain, K. Nelson, S. Bowman, I. Paulsen, K. James, J. Eisen, Kim M Rutherford, S. Salzberg, A. Craig, S. Kyes, Man-Suen Chan, V. Nene, S. Shallom, Bernard B. Suh, J. Peterson, Samuel V. Angiuoli, M. Perțea, Jonathan E. Allen, J. Selengut, D. Haft, M. Mather, A. Vaidya, David M. A. Martin, A. Fairlamb, M. Fraunholz, D. Roos, S. Ralph, G. McFadden, L. M. Cummings, G. Subramanian, C. Mungall, J. Venter, D. Carucci, S. Hoffman, C. Newbold, Ronald W. Davis, C. Fraser, B. Barrell   +44 more
semanticscholar   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing. [PDF]

BMC Genomics
Rojo-Carrillo JJ, Garrido-Rodríguez P, Llamas-López M, Cifuentes-Riquelme R, Padilla J, Ramos-Molina B, Lozano ML, de la Morena-Barrio B, de la Morena-Barrio ME, Corral J.   +9 more
europepmc   +1 more source

Human genome sequence [PDF]

Nature, 1988
openaire   +2 more sources

Epigenome‐wide association study, meta‐analysis, and multiscore profiling of whole blood in Parkinson's disease

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie, Manuela M. X. Tan, Maren Stolp Andersen, Mathias Toft, Lasse Pihlstrøm   +4 more
wiley   +1 more source

Identification of PPREs and PPRE associated genes in the human genome: insights into related kinases and disease implications. [PDF]

Front Immunol
Saha P, Talwar P.
europepmc   +1 more source

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Nature, 2001
Ravi Sachidanandam, David Weissman, Steven Schmidt, Jerzy M. Kakol, Lincoln Stein, Gabor T. Marth, Steve Sherry, J. Mullikin, B. Mortimore, David Willey, S. Hunt, Charlotte G. Cole, Penny Coggill, C. Rice, Zemin Ning, J. Rogers, D. R. Bentley, Pui-Yan Kwok, E. Mardis, Raymond T. Yeh, Brian Schultz, L. Cook, Ruth Davenport, M. Dante, L. Fulton, L. Hillier, Robert H. Waterston, J. D. Mcpherson, Brian Gilman, Stephen F. Schaffner, W. V. Etten, David E. Reich, J. Higgins, Mark J. Daly, B. Blumenstiel, J. Baldwin, N. Stange-thomann, M. Zody, L. Linton, Eric S. Lander, D. Altshuler   +40 more
semanticscholar   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source