Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0009922815601060 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
Sci Rep
December 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3012, Switzerland.
Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants.
View Article and Find Full Text PDFFamilial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFExploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.
Stem Cell Reports
December 2024
Section for Neurobiology, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Danish Research Institute of Translational Neuroscience DANDRITE-Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Aarhus, Denmark; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee, UK. Electronic address:
O-GlcNAcylation is an essential protein modification catalyzed by O-GlcNAc transferase (OGT). Missense variants in OGT are linked to a novel intellectual disability syndrome known as OGT congenital disorder of glycosylation (OGT-CDG). The mechanisms by which OGT missense variants lead to this heterogeneous syndrome are not understood, and no unified method exists for dissecting pathogenic from non-pathogenic variants.
View Article and Find Full Text PDFAccurate phenotype-to-genotype mapping of high-diversity yeast libraries by heat-shock-electroporation (HEEL).
mBio
December 2024
The Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Lyngby, Denmark.
High-throughput DNA transformation techniques are invaluable when generating high-diversity mutant libraries, a cornerstone of successful protein engineering. However, transformation efficiencies have a direct correlation with the probability of introducing multiple DNA molecules into each cell, although reliable library screenings require cells that contain a single unique genotype. Thus, transformation methods that yield a high multiplicity of transformations are unsuitable for high-diversity library screenings.
View Article and Find Full Text PDFA Model-Based Evaluation of Noninvasive Biomarkers to Reflect Histological Nonalcoholic Fatty Liver Disease Scores.
Pharm Res
December 2024
Department of Pharmacy, Uppsala University, Uppsala, Sweden.
Background: Nonalcoholic fatty liver disease (NAFLD) comprises multiple heterogeneous pathophysiological conditions commonly evaluated by suboptimal liver biopsies. This study aimed to elucidate the role of 13 diverse histological liver scores in assessing NAFLD disease activity using an in silico pharmacometric model-based approach. We further sought to investigate various noninvasive patient characteristics for their ability to reflect all 13 histological scores and the NAFLD activity score (NAS).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!