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The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
(Nature, 2015-12)
Purpose
Familial hypercholesterolemia (FH) is one of the most common monogenic disorders, and the high concentrations of low-density lipoprotein (LDL) cholesterol presented since birth confers on these patients an increased ...
The allosteric control mechanisms of alpha-glucan biosynthesis in bacteria
(2023-10-03)
{EN]The alpha-glucans, polysaccharides made of repetitive units of glucose, play a role as energy storage, as with intracellular glycogen, or as structural components, as with the capsular alpha-glucans surrounding the ...
The T1D-associated lncRNA Lnc13 modulates human pancreatic β cell inflammation by allele-specific stabilization of STAT1 mRNA
(National Academy of Sciences, 2020-03-05)
The vast majority of type 1 diabetes (T1D) genetic association signals lie in non-coding regions of the human genome. Many have been predicted to affect the expression and secondary structure of long non-coding RNAs ...
The three lives of viral fusion peptides
(Elsevier, 2014-04)
Fusion peptides comprise conserved hydrophobic domains absolutely required for the fusogenic activity of glycoproteins from divergent virus families. After 30 years of intensive research efforts, the structures and functions ...
A long non-coding RNA that harbors a SNP associated with type 2 diabetes regulates the expression of TGM2 gene in pancreatic beta cells
(Frontiers Media, 2023-02)
IntroductionMost of the disease-associated single nucleotide polymorphisms (SNPs) lie in non- coding regions of the human genome. Many of these variants have been predicted to impact the expression and function of long ...
LncRNA ARGI Contributes to Virus-Induced Pancreatic β Cell Inflammation Through Transcriptional Activation of IFN-Stimulated Genes
(Wiley, 2023-09)
Type 1 diabetes (T1D) is a complex autoimmune disease that develops in genetically susceptible individuals. Most T1D-associated single nucleotide polymorphisms (SNPs) are located in non-coding regions of the human genome. ...
Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies
(Springer Nature, 2023-10)
Purpose of Review Familial hypercholesterolemia (FH) is a hereditary condition characterized by elevated levels of low-
density lipoprotein cholesterol (LDL-C), which increases the risk of cardiovascular disease if left ...
Allosteric control of dynamin-related protein 1 through a disordered C-terminal Short Linear Motif
(Nature, 2024-01)
The mechanochemical GTPase dynamin-related protein 1 (Drp1) catalyzes mitochondrial and peroxisomal fission, but the regulatory mechanisms remain ambiguous. Here we find that a conserved, intrinsically disordered, six-residue ...
Improving the mechanical and biological functions of cell sheet constructs: The interplay of human-derived periodontal ligament stem cells, endothelial cells and plasma rich in growth factors
(Elsevier, 2024-05)
Objective
The aim of this study was to produce and characterize triple-layered cell sheet constructs with varying cell compositions combined or not with the fibrin membrane scaffold obtained by the technology of Plasma ...