Results 221 to 230 of about 169,015 (342)

Optimized genomic editing of a common Duchenne muscular dystrophy mutation in patient-derived muscle cells and a new humanized mouse model

Molecular Therapy: Nucleic Acids
Duchenne muscular dystrophy (DMD) is a fatal X-linked, recessive disease caused by mutations in the DMD gene encoding dystrophin, a membrane-associated protein necessary for maintaining muscle structure and function.
Mateusz Z. Durbacz, Yu Zhang, Hui Li, Takahiko Nishiyama, Efrain Sanchez- Ortiz, John R. McAnally, Damir Alzhanov, Ning Liu, Eric N. Olson   +8 more
doaj  

ALTERATIONS OF ASPARTATE- AND ALANINETRANSAMINASE IN MICE WITH HEREDITARY MUSCULAR DYSTROPHY

, 1967
Shigekatsu Tsuji, Kazuyuki Matsushita
openalex   +2 more sources

Serum Enzyme Activity in Muscular Dystrophy [PDF]

, 1960
W. H. Thomson, P. Leyburn, J. N. Walton
openalex   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

The FEBS Journal, EarlyView.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng, Kevin A. Strauss, Jian‐Ping Jin   +2 more
wiley   +1 more source

A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy. [PDF]

Brain Behav
Liu V, Hanson E, Owens JW, Hopkin RJ, Shillington A.   +4 more
europepmc   +1 more source

Cardiac and Pulmonary Complications in Duchenne's Progressive Muscular Dystrophy

, 1963
John Gilroy, JOSEPH L. CAHALAN, Robert F. Berman, M Newman   +3 more
openalex   +1 more source

Muscular Dystrophy: Some Recent Advances in Knowledge [PDF]

, 1964
J. N. Walton
openalex   +1 more source

The Landscape of SPP1+ Macrophages Across Tissues and Diseases: A Comprehensive Review

Immunology, EarlyView.
SPP1+ macrophages represent a conserved, disease‐associated population present across cancerous and non‐cancerous conditions, involved in immunosuppression, fibrosis, lipid metabolism, phagocytosis, and other cellular processes. This review highlights their shared molecular programmes across tissues, their interactions with stromal and immune cells ...
Alessandro Palma
wiley   +1 more source

Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
Zrelski MM, Eckhard M, Fichtinger P, Hösele S, Sombke A, Mill L, Kustermann M, Schmidt WM, Norwood F, Schlötzer-Schrehardt U, Wiche G, Schröder R, Winter L.   +12 more
europepmc   +1 more source

Sources of error in the biochemical diagnosis of muscular dystrophy [PDF]

, 1962
W. H. Thomson
openalex   +1 more source