Results 41 to 50 of about 11,405 (119)
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source
Abstract INTRODUCTION Genome‐wide association studies (GWAS) have identified 80+ genetic loci associated with Alzheimer's disease (AD), enabling the development of polygenic risk scores (PRS). However, the predictive accuracy of PRS in diverse populations remains low.
Meri Okorie +9 more
wiley +1 more source
Abstract INTRODUCTION We utilized an Alzheimer's disease (AD) polygenic risk score (PRS) to discover associations with novel rare variants (RVs). METHODS PRSs for European ancestry (EA) participants of the Alzheimer's Disease Sequencing Project were calculated using summary statistics from a large genome‐wide association study.
Oluwatosin Olayinka +13 more
wiley +1 more source
Nucleotide Metabolism in Health and Disease
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao +7 more
wiley +1 more source
Abstract Baobab trees (Adansonia) are iconic members of Madagascar's biota that serve as emblems for the island's unique biodiversity. Despite this recognition, many questions remain regarding evolutionary relationships and species limits within the genus.
Nisa Karimi +3 more
wiley +1 more source
Genetic differentiation and adaptive evolution of buff‐tailed bumblebees in Asia
This study investigates the genetic differentiation and local adaptation of the buff‐tailed bumblebee (Bombus terrestris) across its European and Asian populations. Using whole‐genome resequencing, we identified distinct genetic differences between populations, with Asian B. terrestris representing a unique genetic resource.
Long Su +14 more
wiley +1 more source
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
ABSTRACT The non‐classical Class I genes (HLA‐E, HLA‐F and HLA‐G) show limited protein‐level diversity; however, full‐length analyses that include regulatory and noncoding regions have not been sufficiently performed in East Asian populations. We designed new primers for long‐range PCR and conducted PacBio SMRT sequencing to generate full‐length gene ...
Ikue Ito‐Naito +8 more
wiley +1 more source
Identifying the contributions of progenitor Malus species to cultivated apple (M. domestica) using 20K SNP array data. [PDF]
Howard NP +6 more
europepmc +1 more source

