Results 41 to 50 of about 4,375 (200)
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]
, 2015 BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D. +10 more
core +3 more sources
Membralin Assembles a MAN1B1-VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation. [PDF]
Adv Sci (Weinh)This study identifies Membralin as an ER‐phagy receptor that recruits MAN1B1 and VCP to form a selective ERLAD complex. By sensing dense N‐glycan clusters on viral fusion glycoproteins, this ubiquitin‐independent pathway directs SARS‐CoV‐2 spike, Ebola GP, influenza HA, and HIV‐1 Env to lysosomal degradation, thereby limiting viral infectivity ...
Zhang J +5 more
europepmc +2 more sources
The Magnitude of Lift Forces Acting on Drops and Bubbles in Liquids Flowing Inside Microchannels [PDF]
, 2013 Hydrodynamic lift forces offer a convenient way to manipulate particles in microfluidic applications, but there is little quantitative information on how non-inertial lift mechanisms act and compete with each other in the confined space of microfluidic ...
Ellerbee, Audrey K. +4 more
core +2 more sources
Genetics in Medicine, 2021 Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As a consequence, many variants that were initially claimed to be disease-causing can be now reclassified as benign or uncertain in light of the new data available ...
Charnay, Théo +10 more
openaire +4 more sources
Ancestry dependent balancing selection of placental dysferlin at high-altitude
Frontiers in Cell and Developmental Biology, 2023 Introduction: The placenta mediates fetal growth by regulating gas and nutrient exchange between the mother and the fetus. The cell type in the placenta where this nutrient exchange occurs is called the syncytiotrophoblast, which is the barrier between ...
William E. Gundling +5 more
doaj +1 more source
A family of membrane-shaping proteins at ER subdomains regulates pre-peroxisomal vesicle biogenesis [PDF]
, 2016 Saccharomyces cerevisiae contains three conserved reticulon and reticulon-like proteins that help maintain ER structure by stabilizing high membrane curvature in ER tubules and the edges of ER sheets.
Agrawal +54 more
core +2 more sources
Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report
Gene, Cell and Tissue, 2021 Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of the muscles that control movement. In this study, we tried to investigate genetic variants in muscular dystrophy using sequencing of whole exons.
Hadis Malek +4 more
openaire +2 more sources
Molecular Genetics & Genomic Medicine, 2019 Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan +5 more
doaj +1 more source
Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome [PDF]
, 2018 Background: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and
Abdul-Khaliq, Hashim +6 more
core +4 more sources