Results 41 to 50 of about 1,862 (162)

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

Pharmacist-Led Medication Evaluation Considering Pharmacogenomics and Drug-Induced Phenoconversion in the Treatment of Multiple Comorbidities: A Case Report

Medicina, 2021
Pharmacogenomic (PGx) information can guide drug and dose selection, optimize therapy outcomes, and/or decrease the risk of adverse drug events (ADEs). This report demonstrates the impact of a pharmacist-led medication evaluation, with PGx assisted by a ...
Nicole Marie Del Toro-Pagán, Adriana Matos, David Thacker, Jacques Turgeon, Nishita Shah Amin, Veronique Michaud   +5 more
doaj   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

A retrotransposon storm marks clinical phenoconversion to late-onset Alzheimer’s disease

GeroScience, 2022
AbstractRecent reports have suggested that the reactivation of otherwise transcriptionally silent transposable elements (TEs) might induce brain degeneration, either by dysregulating the expression of genes and pathways implicated in cognitive decline and dementia or through the induction of immune-mediated neuroinflammation resulting in the ...
Macciardi, Fabio, Giulia Bacalini, Maria, Miramontes, Ricardo, Boattini, Alessio, Taccioli, Cristian, Modenini, Giorgia, Malhas, Rond, Anderlucci, Laura, Gusev, Yuriy, Gross, Thomas J, Padilla, Robert M, Fiandaca, Massimo S, Head, Elizabeth, Guffanti, Guia, Federoff, Howard J, Mapstone, Mark   +15 more
openaire   +5 more sources

Progression of Motor and Cognitive Functions in Isolated REM Sleep Behavior Disorder: A 7‐Year Prospective Matched Cohort Study

Movement Disorders, EarlyView.
Abstract Background Although clinical markers (eg, motor and cognitive impairment) in isolated rapid eye movement sleep behavior disorder (iRBD) are associated with faster phenoconversion, their longitudinal trajectory patterns (linear or nonlinear) remain unclear.
Li Zhou, Yaping Liu, Bei Huang, Jing Wang, Shi Tang, Yuhua Yang, Siyi Gong, Steven W.H. Chau, Joey W.Y. Chan, Mandy W.M. Yu, Jessie C.C. Tsang, Shirley Xin Li, Siu Ping Lam, Vincent C.T. Mok, Karen K.Y. Ma, Anne Y.Y. Chan, Jihui Zhang, Yun Kwok Wing   +17 more
wiley   +1 more source

Melanopsin‐Mediated Post‐Illumination Pupillary Response in Idiopathic Rapid Eye Movement (REM) Sleep Behavior Disorder and Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Aims To conduct a case–control study to investigate melanopsin‐mediated post‐illumination pupillary response (PIPR) in patients with Parkinson's disease (PD), video‐polysomnography‐confirmed isolated/idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD), and age‐matched healthy controls (HC). Methods PIPR was measured at 6 s after
Joey W.Y. Chan, Bei Huang, Siyi Gong, Yuhua Yang, Shi Tang, Steven Wai‐ho Chau, Ngan Yin Chan, Tim Man‐ho Li, Yaping Liu, Anne Y.Y. Chan, Karen K.Y. Ma, Shirley X. Li, Joshua Tsoh, Kelvin K.L. Chong, Kathryn A. Roecklein, Vincent C.T. Mok, Yun Kwok Wing   +16 more
wiley   +1 more source

Validation of the REM behaviour disorder phenoconversion-related pattern in an independent cohort

Neurological Sciences, 2023
AbstractBackgroundA brain glucose metabolism pattern related to phenoconversion in patients with idiopathic/isolated REM sleep behaviour disorder (iRBDconvRP) was recently identified. However, the validation of the iRBDconvRP in an external, independent group of iRBD patients is needed to verify the reproducibility of such pattern, so to increase its ...
Orso B., Mattioli P., Yoon E. J., Kim Y. K., Kim H., Shin J. H., Kim R., Liguori C., Famà F., Donniaquio A., Massa F., García D. V., Meles S. K., Leenders K. L., Chiaravalloti A., Pardini M., Bauckneht M., Morbelli S., Nobili F., Lee J. Y., Arnaldi D.   +20 more
openaire   +4 more sources

Actigraphy Meets AI: A Digital Biomarker for Parkinson's Disease and Isolated REM Sleep Behaviour Disorder

Journal of Sleep Research, EarlyView.
ABSTRACT Isolated rapid eye movement (REM) sleep behaviour disorder (RBD) is an early stage of alpha‐synucleinopathies, such as Parkinson's disease (PD). Actigraphy is a promising tool for assessing rest‐activity patterns, however its diagnostic or predictive value in these disorders is understudied.
Leonor Lopes, Jan D. Warncke, Irina Filchenko, Kuangyu Shi, Claudio L. A. Bassetti, Carolin Schäfer   +5 more
wiley   +1 more source

Autophagy in phenoconversion of differentiated and undifferentiated fibroblasts

The FASEB Journal, 2013
Cardiac fibroblasts phenoconvert to hypersecretory myofibroblasts and deposit matrix resulting in cardiac fibrosis and autophagy that is associated to fibroproliferative events. Autophagy inhibition was studied in both primary (P0) rat cardiac fibroblasts (PF) and mouse embryonic fibroblasts (MEF).
Shivika Gupta, Morvarid Kavosh, Shu‐Ru Chen, Saeid Ghavami, Sunil Rattan, Thomas Klonisch, Ian Dixon   +6 more
openaire   +1 more source

Precision anesthesia and pharmacogenomics: a scoping review of personalized drug response

Frontiers in Anesthesiology
BackgroundAnesthetic agent selection and dosing have historically relied on empirical models without taking into account inter-individual variability in drug response, leading to adverse drug reactions (ADRs).
Sarina Nikzad, Ofelia Loani Elvir-Lazo, Robert Wong   +2 more
doaj   +1 more source