Results 271 to 280 of about 1,051,148 (367)

Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium. [PDF]

Sci Rep
Kan M, Saraiva LR, Hwang LD, Lowenthal ED, Himes BE, Mennella JA.   +5 more
europepmc   +1 more source

Singleton SNPs in the human genome and implications for genome-wide association studies [PDF]

, 2008
Xiayi Ke, Martin S. Taylor, Lon R. Cardon   +2 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Genome-wide association study of myocarditis and pericarditis following COVID-19 vaccination. [PDF]

NPJ Vaccines
Cavalli M, Eriksson N, Baron T, Yalcinkaya A, Landegren N, Brodin P, Hallberg P, Wadelius M.   +7 more
europepmc   +1 more source

Expectations and challenges stemming from genome-wide association studies [PDF]

, 2008
Paolo Vineis, Paul Brennan, Federico Canzian, John P. A. Ioannidis, Giuseppe Matullo, Marylyn D. Ritchie, Ulf Strömberg, Emanuela Taioli, J. Thompson   +8 more
openalex   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Genome-Wide Association Study for Belly Traits in Canadian Commercial Crossbred Pigs. [PDF]

Animals (Basel)
Mozduri Z, Plastow G, Dekkers J, Houlahan K, Kemp R, Juárez M.   +5 more
europepmc   +1 more source

Probability that a Two‐Stage Genome‐Wide Association Study will Detect a Disease‐Associated SNP and Implications for Multistage Designs [PDF]

, 2008
Mitchell H. Gail, Ruth M. Pfeiffer, William Wheeler, D. Pee   +3 more
openalex   +1 more source

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction. [PDF]

Nat Commun
Xiong Z, Li Y, Liu X, Lu H, Hysi PG, Pardo LM, Uitterlinden AG, Rivadeneira F, Ikram MA, Ghanbari M, Wolvius EB, Roshchupkin GV, Richmond S, Nijsten T, Spector TD, Wang S, Liu F, Kayser M.   +17 more
europepmc   +1 more source