Results 21 to 30 of about 8,048 (176)

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
core   +1 more source

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs [PDF]

, 2012
BACKGROUND: About 9% of the offspring of a clinically healthy Piétrain boar named ‘Campus’ showed a progressive postural tremor called Campus syndrome (CPS).
Barbara Harlizius, Cord Drögemüller, Imke Tammen, Leonardo Murgiano   +3 more
core   +2 more sources

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
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The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration [PDF]

, 2013
Mobilization of the GLUT4 glucose transporter from intracellular storage vesicles provides a mechanism for insulin-responsive glucose import into skeletal muscle.
Brodsky, Frances M., Camus, Stéphane M., Esk, Christopher, Funke, Birgit H., Griffin, Christine A., Hoshino, Sachiko, Ishii, Akiko, Kucherlapati, Raju, Margeta, Marta, Ohkoshi, Norio, Rando, Thomas A., Sakamoto, Kazuho, Tamaoka, Akira, Torres, Jorge A., Vassilopoulos, Stéphane   +14 more
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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, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

Single Muscle Fiber Proteomics Reveals Fiber-Type-Specific Features of Human Muscle Aging [PDF]

, 2017
Skeletal muscle is a key tissue in human aging, which affects different muscle fiber types unequally. We developed a highly sensitive single muscle fiber proteomics workflow to study human aging and show that the senescence of slow and fast muscle fibers
Ciciliot, Stefano, Mann, Matthias, Murgia, Marta, Nagaraj, Nagarjuna, Reggiani, Carlo, Schiaffino, Stefano, Toniolo, Luana, Vindigni, Vincenzo   +7 more
core   +3 more sources

Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]

, 2018
OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M, Bortolotti, CA, Forrest, A, Goullée, H, Haliloglu, G, Kaya, U, Laing, NG, Lambrughi, M, Manzur, A, Muntoni, F, Ong, R, Osborn, DP, Phadke, R, Pignataro, M, Ravenscroft, G, Sewry, CA, Talim, B, UK10K Consortium, Whyte, T, Zaharieva, I   +19 more
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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies [PDF]

, 2016
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases.
Barresi, R, Bushby, K, Childs, A-M, Davis, MR, Desikan, M, Feng, L, Fialho, D, Gardiner, AR, Hanna, MG, Hilton-Jones, D, Holton, JL, Houlden, H, Jungbluth, H, Laing, NG, Lamont, PJ, Manzur, AY, Marsh, J, Murphy, E, Parton, M, Phadke, R, Pitceathly, RDS, Quinlivan, R, Ravenscroft, G, Scalco, RS, Schapira, AH, Turner, C, Wallefeld, W   +26 more
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Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

Stem Cell Research
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs.
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +10 more
doaj   +1 more source