Results 111 to 120 of about 130,419 (249)

Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations

OncoTarget, 2016
DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in ...
L. Luce, M. Abbate, J. Cotignola, F. Giliberto   +3 more
semanticscholar   +1 more source

Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot

International Journal of Molecular Sciences, 2016
Duchenne muscular dystrophy (DMD) is a severe muscular disorder. It was reported that multiple exon skipping (MES), targeting exon 45–55 of the DMD gene, might improve patients’ symptoms because patients who have a genomic deletion of all these exons ...
H. Suzuki, Y. Aoki, T. Kameyama, Takashi Saito, S. Masuda, J. Tanihata, T. Nagata, A. Mayeda, S. Takeda, T. Tsukahara   +9 more
semanticscholar   +1 more source

External versus Internal Distraction Devices in Treatment of Obstructive Sleep Apnea in Craniofacial Anomalies

Plastic and Reconstructive Surgery, Global Open, 2014
Background: Obstructive sleep apnea is often associated with congenital craniofacial malformations due to hypoplastic mandible and decreased pharyngeal airway.
Adi Rachmiel, DMD, PhD, Saleh Nseir, DMD, Omri Emodi, DMD, Dror Aizenbud, DMD, MSc   +3 more
doaj   +1 more source

Identification of serum protein biomarkers for utrophin based DMD therapy

Scientific Reports, 2017
Despite promising therapeutic avenues, there is currently no effective treatment for Duchenne muscular dystrophy (DMD), a lethal monogenic disorder caused by the loss of the large cytoskeletal protein, dystrophin.
S. Guiraud, B. Edwards, S. Squire, A. Babbs, N. Shah, A. Berg, Huijia Chen, K. Davies   +7 more
semanticscholar   +1 more source

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

PLoS ONE, 2015
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific.
J. Juan-Mateu, L. González-Quereda, María José Rodriguez, M. Baena, E. Verdura, A. Nascimento, C. Ortez, M. Baiget, P. Gallano   +8 more
semanticscholar   +1 more source

POSSIBILITY OF PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (DMD) [PDF]

, 1977
Florence P. Haseltine, Maurice J Mahonev, John C. Hobbins, C. Thomas Caskey, Leon Roaenberg   +4 more
openalex   +1 more source

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

Scientific Reports, 2017
We have analysed the splicing pattern of the human Duchenne Muscular Dystrophy (DMD) transcript in normal skeletal muscle. To achieve depth of coverage required for the analysis of this lowly expressed gene in muscle, we designed a targeted RNA-Seq ...
Anne-Laure Bougé, E. Murauer, Emmanuelle Beyne, Julie Miro, Jessica Varilh, M. Taulan, M. Koenig, M. Claustres, S. Tuffery-Giraud   +8 more
semanticscholar   +1 more source

Spontaneous Regeneration of the Mandible after Hemimandibulectomy: Report of a Case

Frontiers in Dentistry, 2011
Mandibular defects may result from many conditions such as trauma, inflammatory diseases and tumors. There are rare cases reported in the literature that have demonstrated spontaneous bone regeneration after resection of the mandible.
A. Khodayari, A. Khojasteh, MT. Kiani, A. Nayebi, L. Mehrdad, M. Vahdatinia   +5 more
doaj  

Analysis of Flow-induced Vibration Characteristics of Fuel Rods Using POD and DMD Methods

Yuanzineng kexue jishu
The exploration of flow-induced vibration in fuel rods is of utmost importance as it plays a pivotal role in comprehending and mitigating factors that contribute to fuel failure and reactor shutdown.
MIN Guangyun1, JIANG Naibin1, 2,
doaj   +1 more source

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

Nature Communications, 2015
Myotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors resulting in alternative splicing misregulation and ...
F. Rau, J. Lainé, Laetitita Ramanoudjame, A. Ferry, L. Arandel, O. Delalande, A. Jollet, F. Dingli, Kuang-Yung Lee, C. Peccate, S. Lorain, E. Kabashi, T. Athanasopoulos, T. Koo, D. Loew, M. Swanson, E. Le Rumeur, G. Dickson, V. Allamand, J. Marie, D. Furling   +20 more
semanticscholar   +1 more source