Results 81 to 90 of about 2,733 (194)

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA‐binding factors such as the Muscleblind‐like (MBNL)
Caroline Hermitte, Hortense de Calbiac, Gilles Moulay, Antoine Mérien, Jeanne Lainé, Hélène Polvèche, Michel Cailleret, Stéphane Vassilopoulos, Edor Kabashi, Denis Furling, Cécile Martinat, Morgan Gazzola   +11 more
wiley   +1 more source

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy [PDF]

, 2015
International audienceMyotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats.
Allamand, Valérie, Arandel, Ludovic, Athanasopoulos, Takis, Delalande, Olivier, Dickson, George, Dingli, Florent, Ferry, Arnaud, Furling, Denis, Jollet, Arnaud, Kabashi, Edor, Koo, Taeyoung, Lainé, Jeanne, Le Rumeur, Elisabeth, Lee, Kuang-Yung, Loew, Damarys, Lorain, Stéphanie, Marie, Joëlle, Peccate, Cécile, Ramanoudjame, Laetitita, Rau, Frédérique, Swanson, Maurice S   +20 more
core   +3 more sources

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients [PDF]

, 2020
Introduction. Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic spectrum of NDM in a large German cohort. Methods.
Gläser, Dieter, Montagnese, Federica, Schoser, Benedikt, Vereb, Noemi   +3 more
core   +1 more source

Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys

Aging Cell, Volume 24, Issue 12, December 2025.
Here we show shared and depot‐specific adaptations to life‐long CR in subcutaneous and visceral adipose depots from advanced‐age male rhesus monkeys. Transcriptomics reveal differences between the depots, as well as shared and distinct CR‐responsive pathways.
Josef P. Clark, Timothy W. Rhoads, Sean J. McIlwain, Michael A. Polewski, Derek M. Pavelec, Ricki J. Colman, Rozalyn M. Anderson   +6 more
wiley   +1 more source

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +1 more source

Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders [PDF]

, 1998
Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurring chromosome abnormalities in myeloid leukemias. The association of - 7/7q- with myeloid leukemia suggests that these regions contain novel tumor suppressor gene(s), whose loss of ...
Brown, J, Cuneo, A, Döhner, H, Döhner, K, Fröhling, S, Hehmann, U, Hetzel, C, Lichter, P, Lowther, G, Scherer, SW, Scholl, C, Stewart, J, Tsui, LC   +12 more
core  

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

Global gene expression in neuroendocrine tumors from patients with the MEN1 syndrome [PDF]

, 2005
Background Multiple Endocrine Neoplasia type 1 (MEN1, OMIM 131100) is an autosomal dominant disorder characterized by endocrine tumors of the parathyroids, pancreatic islets and pituitary.
William G Dilley, Somasundaram Kalyanaraman, Sulekha Verma, J Perren Cobb, Jason M Laramie, Terry C Lairmore   +5 more
core   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.
ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
wiley   +1 more source

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

BMC Neurology, 2019
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama   +7 more
doaj   +1 more source