Results 221 to 230 of about 717,561 (312)

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

Ethical considerations in utilizing artificial intelligence for analyzing the NHGRI's History of Genomics and Human Genome Project archives. [PDF]

J Escience Librariansh
Hosseini M, Hong S, Holmes K, Wetterstrand K, Donohue C, Amaral LAN, Stoeger T.   +6 more
europepmc   +1 more source

Chimp genome project [PDF]

, 2000
Asako Saegusa
openalex   +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

A Highly Complex Organization of the Regulatory Region of the Human CYP19 (Aromatase) Gene Revealed by the Human Genome Project [PDF]

, 2001
Siby Sebastian, Serdar E. Bulun
openalex   +2 more sources

Robust genome-wide ancestry inference for heterogeneous datasets: illustrated using the 1,000 genome project with 3D facial images. [PDF]

Sci Rep, 2020
Li J, Zarzar TG, White JD, Indencleef K, Hoskens H, Matthews H, Nauwelaers N, Zaidi A, Eller RJ, Herrick N, Günther T, Svensson EM, Jakobsson M, Walsh S, Van Steen K, Shriver MD, Claes P.   +16 more
europepmc   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Gene content, phage cycle regulation model and prophage inactivation disclosed by prophage genomics in the Helicobacter pylori Genome Project. [PDF]

Gut Microbes
Vale FF, Roberts RJ, Kobayashi I, Camargo MC, Rabkin CS, HpGP Research Network.   +5 more
europepmc   +1 more source

The Mnemiopsis Genome Project Portal: integrating new gene expression resources and improving data visualization. [PDF]

Database (Oxford), 2020
Moreland RT, Nguyen AD, Ryan JF, Baxevanis AD.   +3 more
europepmc   +1 more source

Human Genome Project: is Eugenism Coming Back? [PDF]

, 2000
Charles Susanne
openalex   +1 more source