Results 221 to 230 of about 114,005 (286)

The Clinical Manifestation of Homozygous Huntington's Disease

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Huntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition.
Brishti Sengupta, Pritha Dasgupta
wiley   +1 more source

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy. [PDF]

Front Genet
Li L, Chang T, Li X, Hao Y, Deng M, Li Y.   +5 more
europepmc   +1 more source

GLP‐1 at the Metabolic–Cognitive Interface: Reward, Affect, and Memory

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
GLP‐1R signaling integrates metabolic state with neural circuits controlling reward, mood, and memory, acting as a metabolic‐cognitive interface. In reward pathways, it suppresses hedonic feeding and drug seeking; in affective circuits, sustained signaling promotes anxiolytic and antidepressant effects; and in the hippocampus, it enhances synaptic ...
Serena X. Gao, Léa Décarie‐Spain, Cindy Gu, Giulia Mazzini, Scott E. Kanoski, Tito Borner   +5 more
wiley   +1 more source

An automated plasma-based proteotyping immunoassay for APOE ε4 zygosity classification in Alzheimer's disease. [PDF]

Alzheimers Dement
Levin S, Engel B, Carlson C, Hinson J, Holland M, Figdore D, Lim HK, Tiers L, Bhatt K, Schlichtmann B, Hoffmann K, Bae YE, Szabo M, Lehmann S, Um YH, Algeciras-Schimnich A.   +15 more
europepmc   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 964-978, April 2026.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

TLR2 variants and <i>Helicobacter pylori</i>: revisiting a controversial link. [PDF]

Ups J Med Sci
Kirkik D, Demircioglu S, Taş SK.
europepmc   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 916-927, April 2026.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard, Matthias Schwab, Michelle Whirl‐Carrillo, Ann M. Moyer, Guilherme Suarez‐Kurtz, Ching‐Hon Pui, C. Michael Stein, Teri E. Klein, Claire Spahn, Sooyeon Kwon, Juanda Leo Hartono, Nanne K. de Boer, Tariq Ahmad, Federico Guillermo Antillon‐Klussmann, Kelly E. Caudle, Motohiro Kato, Allen E. J. Yeoh, Kjeld Schmiegelow, Jun J. Yang   +18 more
wiley   +1 more source

Deviations from additivity in APOE4-mediated late-onset Alzheimer's disease risk across races and ethnicities. [PDF]

Hum Genet
Durodoye RO, Ciesielski TH, Benchek P, Bartlett J, Zhu X, Liu S, Naj A, Kunkle B, Schellenberg GD, Mayeux R, Farrer L, Wang LS, Pericak-Vance MA, Rajabli F, Tosto G, Haines JL, Bush WS, Williams SM.   +17 more
europepmc   +1 more source

Genetic Structure of Blue Ling, Molva dypterygia, in the North Atlantic

Ecology and Evolution, Volume 16, Issue 4, April 2026.
The blue ling, a deep‐water fish in the Northeast Atlantic, has experienced severe population declines since the 1970s due to intensive fishing. Genetic analysis across fjords and offshore regions using 61 SNPs revealed weak but significant differentiation, rejecting the idea of a single randomly mating population.
María Quintela, Hege Øverbø Hansen, Laila Unneland, Ilaria Coscia, Torild Johansen, Lise Helen Ofstad, Kristin Helle   +6 more
wiley   +1 more source

FDG-PET/CT of Achilles Tendon Xanthoma: A Hot Take on Imaging in Familial Hypercholesterolemia. [PDF]

JACC Case Rep
Kramer AI, Brunham LR.
europepmc   +1 more source