Results 241 to 250 of about 900,745 (376)

Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients. [PDF]

Ital J Pediatr
Wang H, Li C, Li Q, Li N, Qin H.
europepmc   +1 more source

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022
Abstract Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers   +15 more
wiley   +1 more source

Association of NOS3 (rs1799983) and DDAH2 (rs805305) Gene Polymorphisms With Coronary Artery Disease in the Northern Indian Cohort. [PDF]

Cureus
Shiraz Rizvi SM, Mahdi F, Dwivedi J, Mir BA, Zaidi ZH, Rajasekaran NS.   +5 more
europepmc   +1 more source

A Common Single Nucleotide Polymorphism in Endoplasmic Reticulum Aminopeptidase 2 Induces a Specificity Switch That Leads to Altered Antigen Processing

Journal of Immunology, 2012
Irini Evnouchidou, J. Birtley, S. Seregin, A. Papakyriakou, E. Zervoudi, M. Samiotaki, G. Panayotou, P. Giastas, Olivia Petrakis, D. Georgiadis, A. Amalfitano, E. Saridakis, I. Mavridis, E. Stratikos   +13 more
semanticscholar   +1 more source

Is Mycobacterial InhA a Suitable Target for Rational Drug Design?

ChemMedChem, EarlyView.
InhA is the target of isoniazid, a first‐line antituberculosis drug. Isoniazid is, in fact, a prodrug that needs to be activated. Researchers are trying to develop direct inhibitors of InhA. This includes the resolution of crystallographic structures. The Protein Data Bank contains over a hundred InhA structures.
Julien Rizet, Laurent Maveyraud, David Rengel, Valérie Guillet, Gabriel Publicola, Frédéric Rodriguez, Christian Lherbet, Lionel Mourey   +7 more
wiley   +1 more source

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022
Abstract Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger   +35 more
wiley   +1 more source

Association between single nucleotide polymorphisms of DNA repair genes (BRCA1, BRCA2, and PALB2) and breast cancer incidence in a subset of Iranian population. [PDF]

Hered Cancer Clin Pract
Jahangiri S, Abdan Z, Houshmand M, Souroush A, Aznab M.   +4 more
europepmc   +1 more source

SLCO1B1 Functional Variants, Bilirubin, Statin‐Induced Myotoxicity, and Recent Sub‐Saharan African Ancestry: A Precision Medicine Health Equity Study

Clinical Pharmacology &Therapeutics, EarlyView.
Statin pharmacogenetic implementation guidelines are derived from evidence of primarily Eurocentrically biased study populations. Functional SLCO1B1 variants that are rare in these study populations have not been equitably investigated and are thus missing from guidelines.
Tanushree Haldar, Mark Kvale, Jia Yang, Michael P. Douglas, Willow Coyote‐Maetas, Linda Kachuri, John S. Witte, Carlos Iribarren, Marisa W. Medina, Ronald M. Krauss, Sook Wah Yee, Akinyemi Oni‐Orisan   +11 more
wiley   +1 more source

Role of genetic polymorphisms in residual ridge resorption of mandible - A scoping review. [PDF]

Jpn Dent Sci Rev
Venkatesh SB, Shetty SS.
europepmc   +1 more source

Improved Prediction of CYP2D6 Catalyzed Drug Metabolism by Taking Variant Substrate Specificities and Novel Polymorphic Haplotypes into Account

Clinical Pharmacology &Therapeutics, EarlyView.
The polymorphic CYP2D6 enzyme plays a pivotal role in the metabolism of approximately 25% of clinically prescribed drugs. However, the impact of specific genetic variants on the interindividual variability in CYP2D6‐mediated drug metabolism remains insufficiently quantified. This translational study sought to address this gap by analyzing the genotypes
Inger Johansson, Emmanouella M. Xanthopoulou, Yitian Zhou, Anabel Sanchez‐Spitman, Maaike van der Lee, Birgit M. Wollmann, Elisabet Størset, Jesse J. Swen, Henk‐Jan Guchelaar, Espen Molden, Marin M. Jukic, Magnus Ingelman‐Sundberg   +11 more
wiley   +1 more source