Results 151 to 160 of about 2,663 (168)

The theoretical problems of “prodrome” and “phenoconversion” in neurodegeneration

2023
The recognition of and approach to prodromal symptoms, those which manifest before a diagnosis can be ascertained at the bedside, are of increasing interest in neurodegenerative research. A prodrome is conceived of as an early window into a disease, a critical time when putative disease-modifying interventions may be best suited for examination ...
Andrea, Sturchio, Alberto J, Espay
openaire   +2 more sources

Selected Health and Lifestyle Factors, Cytosine-Adenine-Guanine Status, and Phenoconversion in Huntington's Disease [PDF]

Movement Disorders, 2018
BACKGROUND:In Huntington's disease, 60% of the variance in onset age is not explained by the huntingtin gene mutation. Huntington's disease onset was earlier in caffeine users.
Ira Shoulson, Caroline M. Tanner, David Oakes   +2 more
exaly   +2 more sources

How to Integrate CYP2D6 Phenoconversion Into Clinical Pharmacogenetics: A Tutorial

Clinical Pharmacology & Therapeutics, 2021
CYP2D6 genotype is increasingly being integrated into practice to guide prescribing of certain medications. The CYP2D6 drug metabolizing enzyme is susceptible to inhibition by concomitant drugs, which can lead to a clinical phenotype that is different from the genotype‐based phenotype, a process referred to as ...
Emily J, Cicali, Amanda L, Elchynski, Kelsey J, Cook, John T, Houder, Cameron D, Thomas, D Max, Smith, Amanda, Elsey, Julie A, Johnson, Larisa H, Cavallari, Kristin, Wiisanen   +9 more
openaire   +2 more sources

Phenocopy and Phenoconversion: Do they Complicate Association Studies?

Pharmacogenomics, 2012
Current pharmacogenetic focus on genotype A number of clinically relevant drug metabo­ lizing enzymes (DMEs) are expressed poly­ morphically in the population, giving rise to at least three distinct genotypes; extensive metabolizers (EMs), poor metabolizers (PMs) and intermediate metabolizers.
Rashmi R, Shah, Robert L, Smith
openaire   +2 more sources

Pharmacogenetic Guided Drug Therapy – How to Deal With Phenoconversion in Polypharmacy

Expert Opinion on Drug Metabolism and Toxicology
The prevalence of polypharmacy and the increasing availability of pharmacogenetic information in clinical practice have raised the prospect of data-driven clinical decision-making when addressing the issues of drug-drug interactions and genetic polymorphisms in metabolizing enzymes.
Julia C Stingl, Roberto Viviani
exaly   +3 more sources

Mechanical regulation of myofibroblast phenoconversion and collagen contraction

Experimental Cell Research, 2019
Activated fibroblasts promote physiological wound repair following tissue injury. However, dysregulation of fibroblast activation contributes to the development of fibrosis by enhanced production and contraction of collagen-rich extracellular matrix.
Boris, Hinz, Christopher A, McCulloch, Nuno M, Coelho   +2 more
openaire   +2 more sources

I01 Unawareness of motor phenoconversion in huntington disease

Journal of Neurology, Neurosurgery & Psychiatry, 2012
Background Unawareness of disease manifestations in neurodegenerative diseases has been defined by Flashman et al 2002 as “pathological unawareness of a neurological or functional deficit” and by Antoine et al 2004 as “the discrepancy between the patient9s self report and the report of a natural caregiver or the clinical rating of a health ...
E McCusker, D Gunn, E Epping, C Loy, J Long, K Radford, J Griffith, J Mills, J Paulsen   +8 more
openaire   +1 more source

The Role of Phenoconversion in the Pharmacogenetics of Psychiatric Medication

Pharmacogenomics, 2023
Martina Hahn, Sibylle C Roll
openaire   +2 more sources

Proteomic and Functional Signatures of Phenoconversion in Presymptomatic Amyotrophic Lateral Sclerosis

Journal of Clinical Neuromuscular Disease
Background: Amyotrophic lateral sclerosis (ALS) likely has a prolonged presymptomatic phase. Identifying blood biomarkers that predict phenoconversion is critical for early intervention. Methods: We analyzed baseline serum proteomics ...
Steven Lehrer, Peter H. Rheinstein
openaire   +2 more sources

The Importance of Phenoconversion When Using the CYP2D6 Genotype in Clinical Practice

Pharmacogenomics, 2022
Emily J Cicali, Kristin Weitzel
exaly