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Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2019-07-01)
Aumento de transaminasas: una manifestación de distrofia muscular de Duchenne
(Sociedad Chilena de Pediatría, 2012)
Commonly used in clinical practice, glutamic oxalacetic (GOT) and glutamic piruvic (GPT) transaminases are
produced in various body tissues, including striated muscle, so their blood elevation is not due exclusively ...
Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipofenotipo para la distrofia muscular de Duchenne y Becker.
(2013-11-30)
Introducción: La correlación genotipo-fenotipo se estableció mediante el análisis de
deleciones del gen de la distrofina en pacientes con distrofia muscular de Duchenne y
Becker (DMD/DMB).
Objetivos: Establecer la ...
Differences in both inositol 1,4,5-trisphosphate mass and inositol 1,4,5-trisphosphate receptors between normal and dystrophic skeletal muscle cell lines
(John Wiley, 1998)
Human normal (RCMH) and Duchenne muscular dystrophy (RCDMD) cell lines, as well as newly developed normal and dystrophic murine cell lines, were used for the study of both changes in inositol 1,4,5-trisphosphate (IP3) mass ...
Differences in both inositol 1,4,5-triphosphate mass and inositol 1,4,5- triphosphate receptors between normal and dystrophic between normal and dystrophic skeletal muscle cell lines
(1998)
Human normal (RCMH) and Duchenne muscular dystrophy (RCD) cell lines, as well as newly developed normal and dystrophic murine cell lines, were used for the study of both changes in inositol 1,4,5-trisphosphate (IP3) mass ...
Altered ROS production, NF-κB activation and interleukin-6 gene expression induced by electrical stimulation in dystrophic mdx skeletal muscle cells
(Elsevier, 2015)
Duchenne muscular dystrophy is a fatal X-linked genetic disease, caused by mutations in the dystrophin gene, which
cause functional loss of this protein. This pathology is associated with an increased production of reactive ...
Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells
(2010)
Inositol 1,4,5-trisphosphate (IP3) receptors (IP3Rs) drive calcium signals involved in skeletal muscle excitation-transcription coupling and plasticity; IP3R subtype distribution and downstream events evoked by their ...
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosis
(Springer, 2016)
Skeletal muscles of patients with Duchenne muscular dystrophy (DMD) show numerous alterations including inflammation, apoptosis, and necrosis of myofibers. However, the molecular mechanism that explains these changes remains ...
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double blind, placebo controlled, phase 3 trial
(Elsevier, 2017)
Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies ...
IP3 receptor blockade restores autophagy and mitochondrial function in skeletal muscle fibers of dystrophic mice
(Elsevier B.V., 2018)
© 2018 Duchenne muscular dystrophy (DMD) is characterized by a severe and progressive destruction of muscle fibers associated with altered Ca2+ homeostasis. We have previously shown that the IP3 receptor (IP3R) plays a ...