Results 71 to 80 of about 9,766,746 (345)

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

Journal of Neuromuscular Diseases, 2019
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness.
D. Schorling, A. Pechmann, J. Kirschner
semanticscholar   +1 more source

Correction of muscular dystrophies by CRISPR gene editing.

Journal of Clinical Investigation, 2020
Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative ...
F. Chemello, R. Bassel-Duby, E. Olson
semanticscholar   +1 more source

Novel and unscrutinized immune entities of the zebrafish gut

FEBS Letters, EarlyView.
Understudied cells of the zebrafish immune system include bona fide immune cells and epithelial (‐derived) cells with immune functions. Research focusing on zebrafish cells which demonstrate similarities to mammalian immune cell counterparts may help us understand the pathologies in which they are implicated. Currently available and advanced tools make
Audrey Inge Schytz Andersen‐Civil, Marine Mantel, Julia Soh, Serge Mostowy, Sylvia Brugman, Gilles Claude Vanwalleghem   +5 more
wiley   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Application of muscle MRI in diagnosis of hereditary myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders.
SONG Jia, PANG Mi, LI Gang, FU Jun, MA Ming⁃ming   +4 more
doaj   +1 more source

Imeglimin attenuates liver fibrosis by inhibiting vesicular ATP release from hepatic stellate cells

FEBS Letters, EarlyView.
Imeglimin, at clinically relevant concentrations, inhibits vesicular ATP accumulation and release from hepatic stellate cells, thereby attenuating purinergic signaling and reducing fibrogenic activation. This mechanism reveals a newly identified antifibrotic action of imeglimin beyond glycemic control.
Seiji Nomura, Lixiang Wang, Nao Hasuzawa, Ayako Nagayama, Sawako Moriyama, Kenji Ashida, Yoshinori Moriyama, Masatoshi Nomura, Ken Yamamoto   +8 more
wiley   +1 more source

Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying, QI Xue‑liang, ZHANG Wei, FENG Li‑qun, LIU Guang‑zhi, YUAN Yun   +5 more
doaj   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources

The role of fibroblast growth factors in cell and cancer metabolism

FEBS Letters, EarlyView.
Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley   +1 more source

Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review [PDF]

Journal of Clinical and Diagnostic Research
Duchenne Muscular Dystrophy (DMD) is the most common primary myopathy of children. There are many muscular diseases in children which are inherited through generations. All those are known as congenital myopathy.
Shruti Prakash Kapatkar, Renu Rathi, Swecha Choudhary   +2 more
doaj   +1 more source