Results 271 to 280 of about 319,715 (326)

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

open access: yesVeterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok   +5 more
wiley   +1 more source

Genomic Validation of PERV‐C‐Free Pigs to Support Xenotransplantation

open access: yesXenotransplantation, Volume 33, Issue 1, January/February 2026.
ABSTRACT Porcine endogenous retroviruses (PERVs) are present in the germ lines of domesticated pigs (Sus scrofa) and related suids. There are three types of PERVs, PERV‐A, ‐B, and ‐C, which differ in their host range. PERV‐A and ‐B can infect human and porcine cells, while PERV‐C only infects porcine cells. PERV‐A and ‐B are found in the genomes of all
Neal R. Benjamin   +6 more
wiley   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

open access: yesHuman Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren   +17 more
wiley   +1 more source

Protective Effects of Bone Mineral Density on Age‐Related Macular Degeneration: A Mendelian Randomization Study

open access: yesInternational Journal of Endocrinology, Volume 2026, Issue 1, 2026.
Introduction Observational studies have established the connection between a decrease in bone mineral density (BMD) and an increased susceptibility to age‐related macular degeneration (AMD). However, the cause‐and‐effect link of this correlation remains uncertain. This study employed Mendelian randomization (MR) methods to examine the causality between
Yuxin Sun   +11 more
wiley   +1 more source

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

open access: yesJAMA Neurol, 2017
Lohmann K   +15 more
europepmc   +1 more source

In Vitro Evaluation and Network Pharmacology Analysis of the Antimicrobial Activity of Pistacia lentiscus

open access: yesInternational Journal of Dentistry, Volume 2026, Issue 1, 2026.
Background Chios mastic gum, a natural resin derived from the mastic tree, has a history of traditional use for its beneficial effects on the gastrointestinal system, its anti‐inflammatory properties, and its antimicrobial activity. Objective This study aimed to integrate network pharmacology and standardized in vitro analyses to elucidate the ...
Aparna Ganeshkumar   +7 more
wiley   +1 more source

Genetic Epidemiological Analysis of the Keratoconus Genetic Model in the Chinese Keratoconus Cohort Study. [PDF]

open access: yesInvest Ophthalmol Vis Sci
Yin S   +14 more
europepmc   +1 more source

A Review of Emerging Biomarkers Connecting Diabetes and Ischemic Stroke: Implications for Early Detection and Risk Stratification

open access: yesJournal of Diabetes Research, Volume 2026, Issue 1, 2026.
Diabetes substantially increases the risk of ischemic stroke through complex metabolic, inflammatory, and vascular mechanisms, yet early identification of high‐risk individuals remains challenging. This narrative review synthesizes emerging circulating and genomic biomarkers that illuminate the pathways linking diabetes and ischemic stroke and ...
Nadia Hussain   +4 more
wiley   +1 more source

Home - About - Disclaimer - Privacy