Results 91 to 100 of about 50,370 (253)

Pharmacogenomic profiling of the efficacy of gemcitabine monotherapy in metastatic pancreatic cancer: Subgroup analysis of the GENESECT study

British Journal of Clinical Pharmacology, EarlyView.
Aim In the GENESECT study, no significant gemcitabine (GEM) metabolism‐related germline genetic polymorphisms (GPs) were identified because approximately 70% of patients received combination therapy with nab‐paclitaxel, which has metabolic pathways different from GEM.
Takashi Yokokawa, Daiki Tsuji, Masahiro Hatori, Kazuyoshi Kawakami, Masahiko Nakao, Takuya Yano, Yuichiro Arakawa, Keisuke Matsuo, Yasukata Ohashi, Masato Ozaka, Naoki Sasahira, Yasuhiko Sakata, Yuki Kogure, Shinya Tamaki, Atsushi Wada, Yusuke Taki, Wataru Suzuki, Kazuo Kobayashi, Hiroshi Ishii, Kunihiko Itoh, Masakazu Yamaguchi, Kenichi Suzuki   +21 more
wiley   +1 more source

A Cytosine‑Bulged (3+1) Hybrid G‑Quadruplex Formed by the Chicken DNA Replication Origin

Chemistry – A European Journal, EarlyView.
The first high‐resolution structure of an OGRE‐derived G‐quadruplex from the chicken β‐globin replication origin reveals an intramolecular three‐layer (3+1) hybrid fold with a cytosine bulge and an unprecedented 5'‐outer‐quartet anti guanine, creating a distinctive surface for molecular recognition.
Yingying You, Monica Ching Suen, Haitao Miao, Yanyan Geng, Rahman Ud Din, Mu Yuan, Qiang Xue, Xiaoting Li, Naining Xu, Zhihong Guo, Hon‐Ming Lam, Kwok‐Wai Lo, Changdong Liu, Guang Zhu   +13 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome

Kidney International Reports
Introduction: The role of noncanonical intronic splice site variants in atypical hemolytic uremic syndrome (aHUS) cases without identified pathogenic variants has long been postulated.
Simon Péter Nagy, Sarolta Dobner, Fanni Szumutku, Alice Schmidt, Gere Sunder-Plassmann, Christof Aigner, Michael Rudnicki, Michal Sedivy, Zoltán Prohászka, Ágnes Szilágyi   +9 more
doaj   +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

The Effect of Dicloxacillin Administration on Pharmacokinetics of Narrow Therapeutic Window Drugs: Phenytoin and Warfarin

Clinical Pharmacology &Therapeutics, EarlyView.
Dicloxacillin is a penicillinase‐resistant beta‐lactam antibiotic and potent activator of the Pregnane X receptor (PXR), known to induce CYP2C9, CYP2C19, and CYP3A4 activity. Clinical data suggest it reduces anticoagulation in warfarin‐treated patients and increases the risk of thromboembolic events.
Chanan Shaul, Waseem Mujahed, Ibrahim Idries, Maor Wanounou, Meir Bialer, Yoseph Caraco   +5 more
wiley   +1 more source

UMOD Genotype and Clinical Outcomes in Heart Failure Patients Treated with Loop Diuretics: A UK Biobank Pharmacogenetic Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Uromodulin (UMOD) regulates tubular sodium handling and modulates NKCC2, the molecular target of loop diuretics (LD). Although UMOD variants have been associated with blood pressure and hypertension, their pharmacogenetic relevance in heart failure (HF) remains unknown.
Reinhold Kreutz, Pimrapat Gebert, Jingwen Luo, Paraskevi Tassopoulou, Juliane Bolbrinker, Antonios Douros   +5 more
wiley   +1 more source

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

Clinical Pharmacology &Therapeutics, EarlyView.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles.
Bailey M. Tibben, Maud Maillard, Victoria M. Pratt, Ann M. Moyer, Debbie M. Figueroa, Michelle Whirl‐Carrillo, Andrea Gaedigk, Gabriele Stocco, Matthias Schwab, Kelly E. Caudle, Jun J. Yang   +10 more
wiley   +1 more source

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Journal of Human Immunity
Clinical laboratories searching for pathogenic variants focus mostly on the protein-coding region and corresponding essential splicing sites. Screening for variants in intronic regions requires dedicated bioinformatics tools and detailed experimental studies to confirm deleteriousness and pathogenicity.
Alioua, Najiba, Lambert, Nathalie, Puel, Mathilde, Hanein, Sylvain, Bastard, Paul, Fusaro, Mathieu, Jaffray, Marie, Medel, Bernardita, Khellaf, Lydia, Seeleuthner, Yoann, Perin, Mélodie, Jacques, Corinne, Pasquet, Marlène, Olivier, Laura, Sepulveda, Fernando, Le Voyer, Tom, Cobat, Aurélie, Nitschké, Patrick, Galicier, Lionel, Schleinitz, Nicolas, Oksenhendler, Eric, Malphettes, Marion, Neven, Bénédicte, Moshous, Despina, Suarez, Felipe, Fieschi, Claire, Casanova, Jean-Laurent, de Saint Basile, Geneviève, Dorval, Guillaume, Picard, Capucine, Bustamante, Jacinta, Zhang, Peng, Rosain, Jérémie   +32 more
openaire   +2 more sources

Mosaic activation of the zebrafish hsp70l heat shock promoter: Implications for interpreting transgenes

Developmental Dynamics, EarlyView.
Abstract Background The promoters and enhancers of heat shock genes, such as the 1.5‐kb promoter of the zebrafish hsp70l gene, are valuable tools for temporal activation of transgenes. It has been widely purported that heat shock treatments result in ubiquitous expression of hsp70l‐driven transgenes.
Jong‐Su Park, Xiangyun Wei
wiley   +1 more source