Results 111 to 120 of about 2,287 (160)

Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

, 2004
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin.
최영철
core  

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities

Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular
May Aung-Htut, Sue Fletcher, Steve D. Wilton, Bal Hari Poudel   +3 more
core   +1 more source

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

Dysferlin (DYSF) is a type II transmembrane protein implicated in surface membrane repair of muscle. Mutations in dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), Miyoshi Myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (DMAT).
Cacciottolo M, Bushby K, Laval S, di Bernardo D, Nigro V, Belcastro V   +5 more
core  

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Methylation Landscapes of Cartilage in Hip Osteoarthritis. [PDF]

Genet Res (Camb)
Jiang R, Wang M, Tan G, Lv J, Jin X, Liu Y, Wu R, Shi D.   +7 more
europepmc   +1 more source

Single-cell transcriptomics of X-ray irradiated <i>Drosophila</i> wing discs reveals heterogeneity related to cell-cycle status and cell location. [PDF]

Elife
Cruz J, Sun WY, Verbeke A, Hariharan IK.
europepmc   +1 more source

Integrated Functional and scRNA-Seq Analyses Reveal Convergence of M-CSF- and GM-CSF-Derived Macrophages Following IL-27 Polarization. [PDF]

Cells
Imamichi T, Yang J, Chen Q, Kariyawasam U, Marquez M, Higgins J, Metz J, Sharma HN, Baseler MW, Sui H.   +9 more
europepmc   +1 more source

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy. [PDF]

Neurol Neuroimmunol Neuroinflamm
Kang S, Wang Q, Lv H, Deng J, Zhang W, Lu X, Yuan Y, Wang Z, Zheng F, Yu M.   +9 more
europepmc   +1 more source

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source