The use of genetically humanized animal models for personalized medicine approaches
Disease Models & Mechanisms, 2020 For many genetic diseases, researchers are developing personalized medicine approaches. These sometimes employ custom genetic interventions such as antisense-mediated exon skipping or genome editing, aiming to restore protein function in a mutation ...
Annemieke Aartsma-Rus +4 more
doaj +1 more source
Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy
Neurobiology of Disease, 2022 Dystrophinopaties, e.g., Duchenne muscular dystrophy (DMD), Becker muscular dystrophy and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized by progressive muscular degeneration, which however associate with a significant
Maria Egle De Stefano +2 more
doaj +1 more source
Changes of the digestive tract of Golden Retriever dogs affected by muscular dystrophy [PDF]
, 2010 O modelo experimental canino Golden Retriever portador da Distrofia Muscular (GRMD) é o melhor substituto entre os modelos animais para estudar a Distrofia Muscular de Duchenne.
AMBRÓSIO, Carlos Eduardo +7 more
core +2 more sources
Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]
, 2019 Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder +4 more
core +2 more sources
Advanced Healthcare Materials, EarlyView.This work pioneers melt electrowriting (MEW) of polyethylene vinyl acetate (PEVA) to fabricate ultra‐compliant, high‐resolution scaffolds. By integrating microscale precision with soft tissue‐like biomechanics, PEVA overcomes stiffness‐driven limitations of conventional MEW polymers, establishing a mechanically biomimetic platform for soft tissue ...
Finn Snow +9 more
wiley +1 more source
Abnormality of water homeostasis of Muscular dystrophic chicken [PDF]
, 2014 The muscular dystrophy chicken has been studying as model animal of muscular dystrophy for more than 50 years. Recently, the mutation of WW domain containing E3 ubiquitin protein ligase 1 (WWP1) gene has been identified as a responsible for muscular ...
Saito, Noboru
core
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]
, 2009 Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique +27 more
core +5 more sources
LMO7 Suppresses Tumor‐Associated Macrophage Phagocytosis of Tumor Cells Through Degradation of LRP1
Advanced Science, EarlyView.LMO7 in tumor‐associated macrophages suppresses phagocytosis of tumor cells and limits cytotoxic T lymphocytes infiltration, fostering tumor progression. Mechanistically, LMO7 mediates the ubiquitination and degradation of the phagocytic receptor LRP1, impairing its ability to engulf tumor cells and driving macrophages toward an antitumor phenotype ...
Mengkai Li +12 more
wiley +1 more source
Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy.
PLoS ONE, 2014 A few animal models of Duchenne muscular dystrophy (DMD) are available, large ones such as pigs or dogs being expensive and difficult to handle. Mdx (X-linked muscular dystrophy) mice only partially mimic the human disease, with limited chronic muscular ...
Thibaut Larcher +18 more
doaj +1 more source
Pharmacological inhibition of PKCθ counteracts muscle disease in a mouse model of duchenne muscular dystrophy [PDF]
, 2017 Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse
Benedetti, Anna +8 more
core +2 more sources