Results 51 to 60 of about 3,486 (173)
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
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
BMC Neurology, 2022 Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang +11 more
doaj +1 more source
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
Chinese Medical Journal, 2016 Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. Methods: Eighty-nine index patients were included in the study.
Su-Qin Jin +5 more
doaj +1 more source
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
Molecular Therapy: Nucleic Acids, 2016 Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Helena Escobar +4 more
doaj +1 more source
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
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
DNA methylation dynamics in muscle development and disease [PDF]
, 2015 DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity.
Elvira Carrió
core +4 more sources
Molecular Therapy: Methods & Clinical Development, 2015 Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large gene transfer.
Marina Pryadkina +6 more
doaj +1 more source