Results 131 to 140 of about 122,559 (261)

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting. [PDF]

Mol Genet Genomic Med
Louw N, Schnell S, Molatoli M, Smit I, Kerr R, Devriendt K, Lumaka A, Krause A, Carstens N, Lombard Z, for DDD‐Africa as members of the H3Africa Consortium.   +10 more
europepmc   +1 more source

Pharmacogenomics of dolutegravir: A scoping review of evidence, gaps and clinical implications

British Journal of Clinical Pharmacology, EarlyView.
Dolutegravir underpins modern first‐ and second‐line HIV treatment regimens; however, interindividual variability in its disposition and tolerability presents challenges for optimal use. This scoping review mapped current evidence on the pharmacogenomics of dolutegravir, focusing on pharmacokinetics and pharmacodynamics, and methodological limitations ...
Ronald Kiguba, Mishael Ssesanga, Munir Pirmohamed   +2 more
wiley   +1 more source

Clinical relevance of mosaic variants detected by exome sequencing. [PDF]

J Allergy Clin Immunol
Ghosh R, Fazal Z, Oler AJ, Tokita MJ, Lewis KL, Paul AJ, Schmitz EG, Saucier N, Yan J, Kamen M, Seifert BA, NIAID Centralized Sequencing Program,, Klion AD, Khoury P, Delmonte OM, Notarangelo LD, Freeman AF, Zerbe CS, Uzel G, Metcalfe DD, Komarow HD, Carter MC, McDermott DH, Murphy PM, Olivier KN, Fuss I, Strober W, Rao VK, Bergerson JRE, Almeida de Jesus A, Goldbach-Mansky R, Al-Herz W, Holland SM, Cooper MA, Similuk MN, Walkiewicz MA.   +35 more
europepmc   +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

Searching for BRCA3 by exome sequencing

Hereditary Cancer in Clinical Practice, 2012
Makunin I, Stark M, Gartside M, Chenevix-Trench G   +3 more
doaj   +1 more source

Whole exome sequencing: a new era in prenatal diagnostics. [PDF]

J Transl Med
Shi P, Wang C, Xia Y, Li Z, Gao Z, Kong X.   +5 more
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

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

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