Results 81 to 90 of about 342,419 (394)

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +3 more sources

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, SALVIATI, LEONARDO, Desnuelle, Claude   +2 more
openaire   +5 more sources

Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration

Advanced Healthcare Materials, EarlyView.
This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli, Deepak Gupta, Yogendra Pratap Singh, Pallab Datta, Muhammad Rizwan, Mehmet Baykara, Ibrahim T. Ozbolat   +6 more
wiley   +1 more source

Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA‐Charge Neutral Linkages for Enhanced Splice‐Switching Antisense Oligonucleotides

Angewandte Chemie, EarlyView.
Splice‐switching oligonucleotides are used to treat severe genetic conditions including Duchenne Muscular Dystrophy, but new chemistries are urgently required to improve their efficacy. In this work locked nucleic acid (LNA) is coupled to different charge neutral DNA backbones which are studied by structural, thermodynamic, and biological methods.
Alice Kennett, Lillian Lie, Martin Flerin, Belma Zengin Kurt, Ysobel R. Baker, Alyssa C. Hill, Abinaya Ramesh, Matthew J.A. Wood, Debashis Dhara, Afaf H. El‐Sagheer, Fernanda Duarte, Tom Brown   +11 more
wiley   +2 more sources

Muscle strength deficiency and mitochondrial dysfunction in a muscular dystrophy model of Caenorhabditis elegans and its functional response to drugs

Disease Models & Mechanisms, 2018
Muscle strength is a key clinical parameter used to monitor the progression of human muscular dystrophies, including Duchenne and Becker muscular dystrophies. Although Caenorhabditis elegans is an established genetic model for studying the mechanisms and
Jennifer E. Hewitt, Amelia K. Pollard, Leila Lesanpezeshki, Colleen S. Deane, Christopher J. Gaffney, Timothy Etheridge, Nathaniel J. Szewczyk, Siva A. Vanapalli   +7 more
doaj   +1 more source

Three case series involving progresive motor deficit [PDF]

Romanian Journal of Neurology, 2016
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana, Alina Anghel, Iuliana Nicola-Antoniu, Ioan Buraga   +3 more
doaj   +1 more source

Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics

Frontiers in Cardiovascular Medicine, 2022
Muscular dystrophies are chronic and debilitating disorders caused by progressive muscle wasting. Duchenne muscular dystrophy (DMD) is the most common type. DMD is a well-characterized genetic disorder caused by the absence of dystrophin.
Carlos D. Vera, Angela Zhang, Paul D. Pang, Joseph C. Wu, Joseph C. Wu   +4 more
doaj   +1 more source

Anticodon Engineered Transfer RNA (tRNASUAG) Inhibits Hepatitis B Virus Replication by Promoting the Degradation of Core Protein

Advanced Science, EarlyView.
This study employed tRNASUAG, an anticodon‐engineered tRNA (ACE‐tRNA), to introduce a phosphorylatable serine into the C‐terminal domain of HBc by reading through its stop codon, thereby potentially promoting the ubiquitin‐proteasome degradation of HBc, and subsequently inhibiting HBV replication. Through a tRNASUAG‐gHBV1‐tRNASUAG‐gHBV2‐tRNASUAG tandem
Xingwen Yang, Huiying Sun, Ziheng Luo, Qinxin Zhang, Yarong Song, Jie Li, Xiaoyun Liu, Jie Wang   +7 more
wiley   +1 more source

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Facioscapulohumeral Muscular Dystrophy

Neurotherapeutics, 2004
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
openaire   +8 more sources