Results 81 to 90 of about 3,216 (202)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Frontiers in Neurology, 2020
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano   +8 more
doaj   +1 more source

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

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies

Frontiers in Neurology, 2020
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
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  

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

ClC-1 chloride channels: state-of-the-art research and future challenges

Frontiers in Cellular Neuroscience, 2015
The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Paola eImbrici, Concetta eAltamura, Mauro ePessia, Renato eMantegazza, Jean-Francois eDesaphy, Diana eConte Camerino   +5 more
doaj   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

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

Characterization and identification of hidden rare variants in the human genome [PDF]

, 2015
BackgroundBy examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70 ...
Abbate, Rosanna, Cifola, Ingrid, D\u27Aurizio, Romina, Gensini, Gian Franco, Giusti, Betti, Magi, Alberto, Palombo, Flavia, Pippucci, Tommaso, Romeo, Giovanni, Semeraro, Roberto, Tattini, Lorenzo   +10 more
core   +3 more sources

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