Results 191 to 200 of about 306,247 (295)

Characterisation of the Novel HLA-DPB1*1810:01 Allele by Short-Read Next Generation Sequencing. [PDF]

HLA
Ryan O, Hickey C, Brennan E, Donghaile DÓ, Graham B.   +4 more
europepmc   +1 more source

Resolving CYP2D6 Structural Complexity with Long‐Read Sequencing: Implications for Tamoxifen Precision Dosing in Thai Breast Cancer Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Cytochrome P450 2D6 (CYP2D6)‐mediated bioactivation of tamoxifen to endoxifen is a key determinant of therapeutic efficacy in estrogen receptor‐positive breast cancer. In Asian populations, the high prevalence of structurally complex CYP2D6 alleles complicates conventional genotyping, limiting accurate genotype–phenotype correlation.
Usa Boonyuen, Sirinyatorn Talukam, Beatriz Aira C. Jacob, Wayu Matphong, Kamonwan Chamchoy, Onrapak Reamtong, Nuntana Meesiripan, Junya Yamagishi, Matthew Phanchana, Chayanoot Rattadilok   +9 more
wiley   +1 more source

Genetic Determinants of Treatment‐Related Bone Toxicity in Pediatric Acute Lymphoblastic Leukemia

Clinical Pharmacology &Therapeutics, EarlyView.
Osteonecrosis and fractures are serious corticosteroid‐induced bone toxicities in children treated for acute lymphoblastic leukemia, yet their genetic determinants remain incompletely defined. In this study, we aimed to identify novel genetic contributors to bone toxicity and to evaluate the robustness of both newly identified and previously ...
Rachid Abaji, Vincent Gagné, Émilie Espagne, Nathalie Alos, Veronica Del Vecchio, Lamia Ait Said, Albert Shalmiev, Claire Fuchs, Caroline Laverdière, Jean‐Marie Leclerc, Stephen E. Sallan, Lewis B. Silverman, Daniel Sinnett, Thai Hoa Tran, Maja Krajinovic   +14 more
wiley   +1 more source

No causal effect between prostatitis and erectile dysfunction: Insights from a 2-sample bidirectional Mendelian randomization study. [PDF]

Medicine (Baltimore)
Dai X, Huang J, Ding H, Xie Y.
europepmc   +1 more source

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure

Clinical Pharmacology &Therapeutics, EarlyView.
This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site.
Anssi J. H. Mykkänen, Päivi Hirvensalo, Kathrin Klein, Dorota Kaminska, Markus Grube, Tuija Tapaninen, Johanna I. Kiiski, Mikko Neuvonen, Ville T. Männistö, Jussi Pihlajamäki, Mladen Tzvetkov, Matthias Schwab, Aleksi Tornio, Janne T. Backman, Mikko Niemi   +14 more
wiley   +1 more source

Associations of gut bacterial classes Clostridia and Deltaproteobacteria with type 2 diabetes and Alzheimer's disease: A two-sample Mendelian randomization study. [PDF]

Medicine (Baltimore)
Gao X, Wang L.
europepmc   +1 more source

Clinical Function Assignment of NAT2 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

Clinical Pharmacology &Therapeutics, EarlyView.
NAT2 encodes arylamine N‐acetyltransferase 2, a key enzyme in the phase II metabolism of arylamines and arylhydrazines. NAT2 is highly polymorphic, resulting in variable distributions of rapid and poor metabolizers across global populations. Here, we detail the process undertaken by the Clinical Pharmacogenetics Implementation Consortium (CPIC) NAT2 ...
Bailey M. Tibben, David W. Hein, Michelle Whirl‐Carrillo, Andrea Gaedigk, Michael T. Eadon, Rodney F. Minchin, Sotiria Boukouvala, Adalberto Rezende Santos, Roseann S. Donnelly, José A. G. Agúndez, Kelly E. Caudle   +10 more
wiley   +1 more source

Two-sample Mendelian randomization analysis unveils a potential genetic association between rheumatic diseases and the risk of idiopathic pulmonary fibrosis. [PDF]

Medicine (Baltimore)
Tan W, Ding J, Wang J, Wang S.
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Genetic associations between polyunsaturated fatty acids and alopecia areata. [PDF]

Medicine (Baltimore)
Liu Q, Cai Y, Li W, Shi W, Yu L, Cai X.
europepmc   +1 more source