Results 31 to 40 of about 32,246 (220)

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]

, 1990
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
Mahler, V., Ried, Thomas, V. Mahler, van Ommen, G. J. B., G. J. B. van Ommen, Blonden, L., Cremer, Thomas, Vogt, Peter, L. Blonden, P. Vogt, T. Ried, T. Cremer, M. Cremer   +12 more
core   +1 more source

Dystrophin and mini-dystrophin quantification by mass spectrometry in skeletal muscle for gene therapy development in Duchenne muscular dystrophy

, 2021
Duchenne muscular dystrophy (DMD) is a lethal, degenerative muscle disorder caused by mutations in the DMD gene, leading to severe reduction or absence of the protein dystrophin.
Yong, Florence, Farrokhi, Vahid, Palandra, Joe, Brodfuehrer, Joanne, Le Guiner, Caroline, Neubert, Hendrik, Walsh, Jason, Binks, Michael, Owens, Jane, Caiazzo, Teresa, Neelakantan, Srividya, Dua, Pinky   +11 more
core   +1 more source

A dystrophin-immunoreactive protein in mammalian brain.

, 1993
Dystrophin is expressed only in muscle and brain, but is absent from all tissues of the adult mdx mouse, a mutant with a single base substitution in the dystrophin gene.
Clerk, Angela, Strong, P N, Muntoni, F
core   +5 more sources

Alterations in dihydropyridine receptors in dystrophin-deficient cardiac muscle [PDF]

, 2006
The deficiency of dystrophin, a critical membrane stabilizing protein, in the mdx mouse causes an elevation in intracellular calcium in myocytes. One mechanism that could elicit increases in intracellular calcium is enhanced influx via the L-type calcium
Lu, Sai, Watson, M, Woolf, Peter James, Cornford-Nairn, R, Holroyd, SM, Hoey, Andrew, Woolf, PJ, Cornford-Nairn, Renee, Hoey, Andrew J., Xiao, Xiao-Hui, Woolf, Peter J., Xiao, XH, Holroyd, Sean M., Watson, Michael, Cornford-Nairn, Renee A., Brown, Lindsay, Holroyd, Sean   +16 more
core   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

Scientific Reports, 2021
Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of ...
Z. Koeks, A. A. Janson, C. Beekman, M. Signorelli, H. A. van Duyvenvoorde, J. C. van den Bergen, M. T. Hooijmans, I. Alleman, I. M. Hegeman, J. J. G. M. Verschuuren, J. C. v. Deutekom, P. Spitali, N. A. Datson, E. H. Niks   +13 more
doaj   +1 more source

Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy

Disease Models & Mechanisms, 2020
Dystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC).
Naomi Teramoto, Hidetoshi Sugihara, Keitaro Yamanouchi, Katsuyuki Nakamura, Koichi Kimura, Tomoko Okano, Takanori Shiga, Taku Shirakawa, Masafumi Matsuo, Tetsuya Nagata, Masao Daimon, Takashi Matsuwaki, Masugi Nishihara   +12 more
doaj   +1 more source

Blastocyst injection of wild type embryonic stem cells induces global corrections in mdx mice. [PDF]

PLoS ONE, 2009
Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features.
Elizabeth Stillwell, Joseph Vitale, Qingshi Zhao, Amanda Beck, Joel Schneider, Farah Khadim, Genie Elson, Aneela Altaf, Ghassan Yehia, Jia-hui Dong, Jing Liu, Willie Mark, Mantu Bhaumik, Robert Grange, Diego Fraidenraich   +14 more
doaj   +1 more source

Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease infection

Heliyon, 2017
Background: Dystrophin, an essential protein functional in the maintenance of muscle structural integrity is known to be responsible for muscle deterioration during white spot syndrome virus (WSSV) infection among prawn species.
Anees Fathima Noor, Tze Chiew Christie Soo, Farhana Mohd Ghani, Zee Hong Goh, Li Teng Khoo, Subha Bhassu   +5 more
doaj   +1 more source

Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma

Frontiers in Physiology, 2018
Dystrophin is a massive multi-domain protein composed of specialized amino and carboxyl termini that are separated by 24 spectrin-like repeats. Dystrophin performs critical structural and signaling roles that are indispensable for the functional ...
Justin M. Percival
doaj   +1 more source