Results 101 to 110 of about 4,206 (207)

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard, Bertini, Enrico, Brockington, Martin, Brown, Susan, Bushby, Kate, D'Amico, Adele, Feng, Lucy, Jungbluth, Heinz, Kinali, Maria, Manzur, Adnan, Messina, Sonia, Muntoni, Francesco, Müller, Clemens R., Quinlivan, Ros, Robb, Stephanie, Roper, Helen, Rose, Michael R., Sewry, Caroline A., Straub, Volker, Swash, Michael, Treves, Susan, Zhou, Haiyan   +21 more
core  

Specific fluorescent labeling of chicken myofibril Z-line proteins catalyzed by guinea pig liver transglutaminase [PDF]

, 1979
Guinea pig liver transglutaminase has been found to catalyze the covalent incorporation of dansylcadaverine into chicken skeletal muscle myofibril proteins.
Gard, David L., Lazarides, Elias
core   +1 more source

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nature Communications, 2020
Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier   +15 more
doaj   +1 more source

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj  

Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Case Reports in Medicine, 2012
We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens.
Chao Jiang, Jianping Wang, Haidong Lu
doaj   +1 more source

Transcriptional response to cardiac injury in the zebrafish: systematic identification of genes with highly concordant activity across in vivo models [PDF]

, 2014
Background: Zebrafish is a clinically-relevant model of heart regeneration. Unlike mammals, it has a remarkable heart repair capacity after injury, and promises novel translational applications. Amputation and cryoinjury models are key research tools for
Azuaje, Francisco, da Costa, Ricardo M Benites, González-Rosa, Juan Manuel, Ibberson, Mark, Jeanty, Céline, Mercader, Nadia, Nazarov, Petr V, Nepomuceno-Chamorro, Isabel A, Rodius, Sophie, Xenarios, Ioannis   +9 more
core   +5 more sources

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies [PDF]

, 2017
Congenital myopathies are genetically and clinically heterogeneous conditions causing severe muscle weakness, and mutations in the ryanodine receptor gene (RYR1) represent the most frequent cause of these conditions.
Attali, Ruben, Finotti, Alessia, Gambari, Roberto, Gautel, Mathias, Heytens, Luc, Jungbluth, Heinz, Mitrani-Rosenbaum, Stella, Mosca, Barbara, Muntoni, Francesco, Nevo, Yoram, Pillay, Komala, Rokach, Ori, Sekulic-Jablanovic, Marijana, Treves, Susan, Voermans, Nicol, Wilmshurst, Jo, Zhou, Haiyan, Zorzato, Francesco   +17 more
core  

A Rare Case Report of Dental and Craniofacial Manifestations of Nemaline Myopathy. [PDF]

Cureus, 2023
Badnaware S, Gupta P.
europepmc   +1 more source

Actin Dynamics in Muscle Cells [PDF]

, 2009
In every cell, actin is a key component involved in migration, cytokinesis, endocytosis and generation of contraction. In non-muscle cells, actin filaments are very dynamic and regulated by an array of proteins that interact with actin filaments and/or ...
Skwarek-Maruszewska, Aneta
core  

Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]

, 2017
Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
core