Results 261 to 270 of about 1,051,148 (367)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Genome-Wide Association Study for Nodule Traits in Guar. [PDF]

Curr Issues Mol Biol
Malani S, Ravelombola W, Manley A, Pham H, Brown M, Rahman MM.   +5 more
europepmc   +1 more source

Distinct Genetic Loci Control Plasma HIV-RNA and Cellular HIV-DNA Levels in HIV-1 Infection: The ANRS Genome Wide Association 01 Study

, 2008
Cyril Dalmasso, Wassila Carpentier, Laurence Meyer, Christine Rouzioux, Cécile Goujard, Marie‐Laure Chaix, Olivier Lambotte, Véronique Avettand-Fènoël, Sigrid Le Clerc, Laurent Denis, Christiane Deveau, Faroudy Boufassa, Patrice Debré, Jean‐François Delfraissy, Philippe Broët, Ioannis Théodorou   +15 more
openalex   +2 more sources

Parallel and serial computing tools for testing single-locus and epistatic SNP effects of quantitative traits in genome-wide association studies [PDF]

, 2008
Li Ma, Hakizumwami Birali Runesha, Daniel Dvorkin, John Garbe, Yang Da   +4 more
openalex   +1 more source

Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +3 more
wiley   +1 more source

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program [PDF]

, 2008
Georg Ehret, Alanna C. Morrison, Ashley O’Connor, Megan L. Grove, Lisa Baird, Karen Schwander, Alan B. Weder, Stephen S. Rich, D. C. Rao, Steven C. Hunt, Eric Boerwinkle, Aravinda Chakravarti   +11 more
openalex   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

"Select and Resequence" Methods Enable a Genome-Wide Association Study of the Dimorphic Human Fungal Pathogen Coccidioides posadasii. [PDF]

Genome Biol Evol
Voorhies M, Joehnk B, Uehling J, Walcott K, Dubin CA, Mead HL, Homer CM, Galgiani JN, Barker BM, Brem RB, Sil A.   +10 more
europepmc   +1 more source

Noncoding Genome‐Wide Association Studies Variant for Obesity: Inroads Into MechanismAn Overview From the AHA's Council on Functional Genomics and Translational Biology

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
Connie Wu, Pankaj Arora
doaj   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source