Results 91 to 100 of about 130,419 (249)

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine

BMC Research Notes, 2019
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2.
K. Iskandar, E. Dwianingsih, L. Pratiwi, A. S. Kalim, Hasna Mardhiah, A. Putranti, D. K. Nurputra, A. Triono, E. Herini, R. Malueka, Gunadi, P. Lai, Sunartini   +12 more
semanticscholar   +1 more source

Behavior and anxiety levels in pediatric patient: The behavioral changes and anxiety of pediatric patient in dental clinic

Clinical and Experimental Dental Research, 2023
Aim The aim of this study is to evaluate the behavioral patterns and anxiety levels of pediatric patients in dental clinics, discern their behavioral expectations, and investigate the associations between these factors and the patient's age and gender ...
Rana A. Al Homoud, Amani K. Alshellatie, Abdullah S. Alzumaie, Sura A. Al‐Bayati   +3 more
doaj   +1 more source

Assessment of diaphragmatic thickness by ultrasonography in Duchenne muscular dystrophy (DMD) patients

PLoS ONE, 2018
Introduction In Duchenne muscular dystrophy (DMD) the assessment of diaphragmatic function is crucial because respiratory muscle weakness can cause respiratory failure.
M. Laviola, R. Priori, M. D'Angelo, A. Aliverti   +3 more
semanticscholar   +1 more source

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis

Scientific Reports, 2018
For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherited allele.
S. Jang, B. Lim, Seong-Keun Yoo, Jong-Yeon Shin, Ki-Joong Kim, Jeong-Sun Seo, Jong-Il Kim, J. Chae   +7 more
semanticscholar   +1 more source

A CRISPR possibility for DMD [PDF]

Science-Business eXchange, 2014
Findings that CRISPR-based genome editing can improve symptoms in a mouse model of Duchenne muscular dystrophy could lead to a therapeutic use of the technology, whose impact has thus far been as a research tool.
openaire   +2 more sources

Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line. [PDF]

PLoS ONE, 2015
Dystrophin (Dmd) is a structural protein that links the extracellular matrix to actin filaments in muscle fibers and is required for the maintenance of muscles integrity. Mutations in Dmd lead to muscular dystrophies in humans and other vertebrates. Here,
Frederique Ruf-Zamojski, Vikas Trivedi, Scott E Fraser, Le A Trinh   +3 more
doaj   +1 more source

Muscular dystrophy associated with the DMD gene in women

Нервно-мышечные болезни
Dystrophinopathies are a spectrum of X-linked muscular disorders associated with pathogenic/likely pathogenic variants in the dystrophin gene (DMD). Typically, the condition develops in males, but cases of symptom manifestation have also been described ...
E. O. Vorontsova, A. V. Zinina, O. A. Shchagina   +2 more
doaj   +1 more source

Decreased YAP activity reduces proliferative ability in human induced pluripotent stem cell of duchenne muscular dystrophy derived cardiomyocytes

Scientific Reports, 2021
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration accompanied by dilated cardiomyopathy. Recently, abnormality of yes-associated protein (YAP) has been reported as the pathogenesis of muscle degeneration of DMD ...
Hideki Yasutake, Jong-Kook Lee, Akihito Hashimoto, Kiyoshi Masuyama, Jun Li, Yuki Kuramoto, Shuichiro Higo, Shungo Hikoso, Kyoko Hidaka, Atsuhiko T. Naito, Shigeru Miyagawa, Yoshiki Sawa, Issei Komuro, Yasushi Sakata   +13 more
doaj   +1 more source

Randomized Dynamic Mode Decomposition

, 2019
This paper presents a randomized algorithm for computing the near-optimal low-rank dynamic mode decomposition (DMD). Randomized algorithms are emerging techniques to compute low-rank matrix approximations at a fraction of the cost of deterministic ...
Brunton, Steven L., Erichson, N. Benjamin, Kutz, J. Nathan, Mathelin, Lionel   +3 more
core   +1 more source

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of Human Genetics, 2016
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests ...
M. Okubo, N. Minami, K. Goto, Y. Goto, S. Noguchi, S. Mitsuhashi, I. Nishino   +6 more
semanticscholar   +1 more source