Results 181 to 190 of about 250,365 (285)

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source

Origins and implications of intron retention quantitative trait loci in human tissues. [PDF]

Am J Hum Genet
Park E, Xing Y.
europepmc   +1 more source

Association of a nonsense mutation at the codon for Glu 54 in the GM2A gene with AB variant G¦M¦2 gangliosidosis, characterizing the intron/exon junctions of the gene [PDF]

, 2008
Chen, Biao
openalex  

Multiple Homing Pathways Used by Yeast Mitochondrial Group II Introns

, 2000
Robert Eskes, Lu Liu, Hongwen Ma, Michael Y. Chao, Lorna M. Dickson, Alan M. Lambowitz, Philip S. Perlman   +6 more
openalex   +2 more sources

Identification of a promoter and a silencer at the 3'-end of the first intron of the human aromatase gene. [PDF]

, 1992
J Wang, S Chen
openalex   +1 more source

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Improvement of EPO Transgene Detection From Polymeric Dried Blood Spots for Antidoping Application

Drug Testing and Analysis, EarlyView.
This article presents an optimized protocol for gene doping detection. Starting from one spot DBS (20 μL), concentrated DNA was obtained and real‐time PCR parameters were adjusted for increased detection. Robust detection of 5000 copies/mL of transgene was validated for polymeric device TASSO M‐20.
Alexandre Marchand, Ingrid Roulland, Magnus Ericsson   +2 more
wiley   +1 more source

Chloroplast genomic diversity in eleven Pennisetum species. [PDF]

Front Genet
He M, Wang Q, Zhang Y, Shi C.
europepmc   +1 more source

Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang, Pengzheng Yong, Qiaomu Hu, Shaojun Du   +3 more
wiley   +1 more source

Catalog of 73 novel variants in thalassemia: discoveries and insights. [PDF]

Hum Mol Genet
Huang J, Liu Z, Miao F, Huang L, Xiao C, Zhang P, Huang J, Li Y, Huang X, Xin X.   +9 more
europepmc   +1 more source