Results 211 to 220 of about 114,605 (302)

Effects of inbreeding on balancing selection: insights from Fisher's geometric model. [PDF]

Genetics
Olito C, Connallon T.
europepmc   +1 more source

APOE genotype and the effect of statins on lipid outcomes: A meta‐analysis

British Journal of Clinical Pharmacology, Volume 92, Issue 5, Page 1268-1286, May 2026.
Aim APOE genotype may affect statin therapy response. We conducted a meta‐analysis to update and quantify this association across various outcomes. Methods We searched seven databases (MEDLINE, Scopus, Web of Science, the Cochrane Library, APA PsycINFO, CINAHL Plus and ClinicalTrials.gov) on 9 May 2024.
Innocent G. Asiimwe, Tsegay Gebru, Andrea L. Jorgensen, Munir Pirmohamed, on behalf of the Multimorbidity Mechanism and Therapeutics Research Collaborative   +4 more
wiley   +1 more source

Mutation in IR or IGF1R produces features of long-lived mice while maintaining metabolic health. [PDF]

JCI Insight
Hernández-Arciga U, Kim JK, Fisher JL, Tyshkovskiy A, Moldakozhayev A, Hall C, Ghosh S, Govindaraj Y, Sipula IJ, Kastroll J, Cooke D, Luo J, Alder JK, Rizzo SJS, Ables GP, Choi E, Gladyshev VN, Jurczak MJ, Tatar M, Parkhitko AA.   +19 more
europepmc   +1 more source

Metabolic syndrome and ADRB3 gene polymorphism in severely obese patients from South Italy [PDF]

, 2007
C Finelli, C Nardelli, F Contaldo, F Pasanisi, G Labruna, G Oriani, G Salvatori, L Sacchetti, P Buono, R Bracale   +9 more
core  

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
wiley   +1 more source

Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI. [PDF]

PLoS One
Gilger BC, Song L, Hasegawa T, Salmon JH, Bower JJ, Vridhachalam N, Collins E, Roberts D, Bagel J, Molony C, Vite C, Hirsch ML.   +11 more
europepmc   +1 more source

A Novel PLP1 Gene Mutation Causing Hereditary Spastic Paraplegia Type 2: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT We report a case of a female patient with hereditary spastic paraplegia type 2 (SPG2), who harbors a novel heterozygous nonsense mutation (c.166C>T/p.Gln56*) in the proteolipid protein 1 (PLP1) gene, which has been previously unpublished in the literature. This discovery expands the spectrum of pathogenic mutations in the PLP1 gene.
Qiaoling Tan, Wei Dong
wiley   +1 more source

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study. [PDF]

Genes (Basel)
Tozkir H, Asikovali S, Bozgeyik E, Gurbuz G.   +3 more
europepmc   +1 more source

Hypotheses for the Adaptive Maintenance of Phenotypic Polymorphisms

Ecology and Evolution, Volume 16, Issue 5, May 2026.
Phenotypic polymorphisms offer easily observable diversity ideal for empirical and theoretical exploration, but developing and comparing hypotheses for the adaptive maintenance of polymorphism can be a challenge. Here, we propose a framework categorizing polymorphisms based on (i) one of five distinct types of maintenance selection and (ii) the context
Jay J. Falk, Michael S. Webster, Dustin R. Rubenstein   +2 more
wiley   +1 more source

Liver-metabolic stress, apolipoprotein E ε4, and cognition and amyloid burden: findings from the dementia platform Korea trial-ready registry. [PDF]

Front Aging Neurosci
Ahn YH, Kang JG, Choi D, Kim DJ, Yang CM, Lee SY, Lee SH, Jung YH, Yoon SH.   +8 more
europepmc   +1 more source