Results 101 to 110 of about 4,634 (224)
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 more
doaj +1 more source
Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis
Annals of Neurology, Volume 99, Issue 4, Page 1083-1089, April 2026.The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten +10 more
wiley +1 more source
Dysferlin and its role in the pathogenesis of muscular dystrophy [PDF]
, 2013 Dysferlin is a multi C2 domain protein that belongs to the ferlin family and is localized to the T-tubule system in skeletal muscle fibers. It is involved in skeletal muscle membrane repair, regeneration and T-tubule biogenesis.
Hofhuis, Julia
core +1 more source
Functions of Vertebrate Ferlins
Cells, 2020 Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj +1 more source
Impact of OMICS Technologies in Our Understanding of the Pathogenesis of Peri‐Implantitis
Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.ABSTRACT Objectives To evaluate the contribution of OMICS technologies to the understanding of peri‐implantitis pathogenesis from a host immune perspective. Materials and Methods A narrative review was conducted based on electronic searches of PubMed, MEDLINE, and Google Scholar up to October 2025, complemented by manual screening of reference lists ...
Farah Asa'ad +6 more
wiley +1 more source
The Structural and Functional Analysis of Membrane-Associating C2A and Fer A Domains in Ferlin Proteins [PDF]
, 2019 Dysferlin and myoferlin play roles in membrane alteration, and both are highly expressed in skeletal muscle cells. These multi C2 domain proteins are ~270 kDa in size and show high primary sequence similarity. Despite their similarities and the fact that
Harsini, Faraz M.
core +1 more source
Neuromuscular DisordersDysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses.
H. Borland +22 more
semanticscholar +1 more source
Cell Death and Disease, 2022 Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini +8 more
semanticscholar +1 more source
Journal of Phycology, Volume 62, Issue 2, Page 360-376, April 2026.Abstract Rhodopsins are ancient and versatile light‐sensitive proteins, widely distributed across microbial life. In dinoflagellates, however, their diversity and function remain poorly understood, owing to the lineage's extreme genomic divergence. Here, we surveyed the rhodopsin complements of two dinoflagellates, Amphidinium carterae and Karlodinium ...
Jens Wira +4 more
wiley +1 more source
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy
Molecular Therapy: Methods & Clinical Development, 2019 We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha +2 more
doaj +1 more source