LifeSynopsis: Corneal epithelial wavefront error and epithelial thickness variance qualify as highly sensitive and specific biomarkers for epithelial basement membrane dystrophy (EBMD).
Vitus Grauvogl +7 more
doaj +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
core +2 more sources
Advanced Robotics Research, EarlyView.Muscle cell‐based biohybrid robot using nanomaterials for function enhancement and neural function for biomedical applications. Biohybrid robotics, an emerging field combining biological tissues with artificial systems, has made significant progress in developing various biohybrid constructs, including muscle‐cell‐driven biorobots and microbots.
Minkyu Shin +4 more
wiley +1 more source
Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]
, 2018 Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly +3 more
core +1 more source
RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy
Advanced Science, EarlyView.This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu +12 more
wiley +1 more source
Modern aspects of therapy of primary and secondary dystrophies of the cornea
Российский офтальмологический журнал, 2018 Dystrophy of the cornea is a pathological condition characterized by various manifestations of chronic corneal nutrition disorders. Surgical treatment of corneal dystrophy remains insufficiently available in many regions of Russia.
E. S. Vakhova +2 more
doaj +1 more source
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data [PDF]
, 2022 Jonas Neubauer +5 more
openalex +1 more source
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
Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V +15 more
core +3 more sources
Advanced Science, EarlyView.By integrating biomechanical and epigenetic cues, the evolutionarily conserved TPM1 super‐enhancer drives myogenesis via TEAD4‐mediated chromatin looping. This mechanism produces species‐specific outputs (linear TPM1 mRNA in mice and CircTPM1 in bovine) that activate PI3K/AKT mechanotransduction and the MYH10/MYL3 axis to execute cytoskeletal ...
Ruimen Zhang +27 more
wiley +1 more source