Results 251 to 260 of about 3,800,975 (380)
FEBS Open Bio, EarlyView.Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Krisztina Fülöp +13 more
wiley +1 more source
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions. [PDF]
Hum MutatRraku E +7 more
europepmc +1 more source
Naked cuticle is essential for Drosophila wing development beyond Wingless signaling
FEBS Open Bio, EarlyView.Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley +1 more source
Pleiotropy and the evolutionary stability of plastic phenotypes: a geometric framework. [PDF]
G3 (Bethesda)Wang CQ, DuBose JG.
europepmc +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases. [PDF]
Clin Transl SciAllen JD, Duong BQ, Brady J, Arn P.
europepmc +1 more source
FEBS Open Bio, EarlyView.This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso +4 more
wiley +1 more source
Steroid Phenotype Stratification Reveals Distinct HLA Expression Signatures in Adrenocortical Carcinoma. [PDF]
Cancers (Basel)Giner IS +6 more
europepmc +1 more source