Results 281 to 290 of about 321,114 (362)

Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies.

Dis Model Mech, 2023
Fernández-Costa JM, Tejedera-Vilafranca A, Fernández-Garibay X, Ramón-Azcón J.   +3 more
europepmc   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

PROGRESSIVE MUSCULAR DYSTROPHY OF THE DUCHENNE TYPE IN FEMALES AND ITS MODE OF INHERITANCE [PDF]

, 1960
Victor Dubowitz
openalex   +1 more source

Interpretation of elevated baseline concentrations and serial changes of high-sensitivity cardiac troponin T in confirmed muscular dystrophies. [PDF]

ESC Heart Fail
Yildirim M, Reich C, Salbach C, Pribe-Wolferts R, Milles BR, Täger T, Mueller-Hennessen M, Weiler M, Meder B, Frey N, Giannitsis E.   +10 more
europepmc   +1 more source

The Dual Roles of Lamin A/C in Macrophage Mechanotransduction

Cell Proliferation, EarlyView.
Compressive force can inhibit the expression of lamin A/C, SUN1 and SUN2 in macrophages. Lamin A deficiency may participate in mechanotransduction within macrophages through two distinct mechanisms. ABSTRACT Cellular mechanotransduction is a complex physiological process that integrates alterations in the external environment with cellular behaviours ...
Yao Wang, Sabine Ruf, Lei Wang, Thomas Heimerl, Gert Bange, Sabine Groeger   +5 more
wiley   +1 more source

Muscular Dystrophy: Some Recent Advances in Knowledge [PDF]

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

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Neuroepidemiology, 2014
A. Theadom, M. Rodrigues, R. Roxburgh, Shiavnthi Balalla, C. Higgins, R. Bhattacharjee, K. Jones, R. Krishnamurthi, V. Feigin   +8 more
semanticscholar   +1 more source

Mitonuclear Communication in Stem Cell Function

Cell Proliferation, EarlyView.
In this review, we highlight the critical functions of mitonuclear communication and its impact on mitochondrial proteostasis. Additionally, we examine how mitonuclear signalling influences stem cell function, offering new insights into cellular homeostasis, stem cell therapies, and the potential for lifespan extension.
Baozhou Peng, Yaning Wang, Hongbo Zhang
wiley   +1 more source

Effect of DPPD and Ethoxyquin on the Muscular Dystrophy of Carp Induced by Oxidized Saury Oil

, 1967
Takeshi Watanabe, Takao Tsuchiya, Yoshiro HASHIMOTO   +2 more
openalex   +2 more sources

HISTOCHEMICAL EVIDENCE FOR A POSSIBLE PRIMARY BIOCHEMICAL LESION IN MUSCULAR DYSTROPHY [PDF]

, 1963
Geoffrey H. Bourne, M. Nelly Golarz
openalex   +1 more source