Results 81 to 90 of about 1,979 (203)

Evaluation of the effects of a VEGFR-2 inhibitor compound on alanine aminotransferase gene expression and enzymatic activity in the rat liver [PDF]

, 2011
Article deposited according to agreement with BMC, December 6, 2010.Funding provided by the Open Access Authors Fund ...
Bera, Monali, Evering, Winston, Fuentealba, I. Carmen, Jessen, Bart, Sace, Fred, Stevens, Greg J., Trajkovic, Dusko, Yang, Amy H.   +7 more
core   +3 more sources

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy [PDF]

, 2023
Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in ...
et al.,, Moore, Ursula, Pestronk, Alan
core   +2 more sources

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

IRS4, a novel modulator of BMP/Smad and Akt signalling during early muscle differentiation [PDF]

, 2017
Elaborate regulatory networks of the Bone Morphogenetic Protein (BMP) pathways ensure precise signalling outcome during cell differentiation and tissue homeostasis.
Belverdi, Mohammad Poorgholi, Doerpholz, Gina, Heroven, Christina, Horbelt, Daniel, Jatzlau, Jerome, Knaus, Petra, Murgai, Arunima, Ruschke, Karen, Schreiber, Isabelle, Stricker, Sigmar, Wendel, Gisela   +10 more
core   +1 more source

Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice

Cell Death and Disease, 2022
Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini, L. Tripodi, C. Villa, F. Napolitano, F. Strati, D. Molinaro, F. Facciotti, B. Cassani, Y. Torrente   +8 more
doaj   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Chemotherapy-related cachexia is associated with mitochondrial depletion and the activation of ERK1/2 and p38 MAPKs [PDF]

, 2016
Cachexia affects the majority of cancer patients, with currently no effective treatments. Cachexia is defined by increased fatigue and loss of muscle function resulting from muscle and fat depletion.
Barreto, Rafael, Bonetto, Andrea, Gao, Hongyu, Liu, Yunlong, Waning, David L., Zimmers, Teresa A.   +5 more
core   +2 more sources

Translational Research and Therapeutic Perspectives in Dysferlinopathies

Molecular Medicine, 2011
Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD.
Barthelemy, Florian, Wein, Nicolas, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc   +4 more
openaire   +3 more sources

Therapeutic exon skipping for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotides (AONs). These hide an exon from the splicing machinery to induce exon skipping, restoration of the reading frame and generation of ...
Aartsma-Rus, A., Singh, K.H.K., Fokkema, I.F.A.C., Ginjaar, I.B., Ommen, G.J. van, Dunnen, J.T. den, Maarel, S.M. van der   +6 more
openaire   +3 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source