Results 11 to 20 of about 13,031,197 (236)

Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease [PDF]

, 2006
Malignant hyperthermia (MH) is a pharmacogenetic disorder with autosomal dominant inheritance. In susceptible individuals, a MH crisis may be triggered by commonly used halogenated anaesthetics (halothane, isoflurane) or muscle relaxants ...
Ducreux, Sylvie
core   +1 more source

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

Orphanet Journal of Rare Diseases, 2020
Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a ...
Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd   +4 more
doaj   +1 more source

Congenital Myopathy with Apoptotic Changes

Pediatric Neurology Briefs, 2000
A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source

A structural model of the pore-forming region of the skeletal muscle ryanodine receptor (RyR1). [PDF]

PLoS Computational Biology, 2009
Ryanodine receptors (RyRs) are ion channels that regulate muscle contraction by releasing calcium ions from intracellular stores into the cytoplasm. Mutations in skeletal muscle RyR (RyR1) give rise to congenital diseases such as central core disease ...
Srinivas Ramachandran, Adrian W R Serohijos, Le Xu, Gerhard Meissner, Nikolay V Dokholyan   +4 more
doaj   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Acta Neuropathologica Communications, 2019
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed ...
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero   +17 more
doaj   +1 more source

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Acta Neuropathologica Communications, 2020
Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct functional whole organism consequences of ...
Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty   +17 more
doaj   +1 more source

Gene-regulation modules in nonalcoholic fatty liver disease revealed by single-nucleus ATAC-seq

Life Science Alliance, 2023
This study uncovers cell-type-specific global gene regulation in NAFLD progression, identifying core genes and shedding light on the disease’s molecular mechanisms.
Fumihiko Takeuchi, Yi-Qiang Liang, Hana Shimizu-Furusawa, Masato Isono, Mia Yang Ang, Kotaro Mori, Taizo Mori, Eiji Kakazu, Sachiyo Yoshio, Norihiro Kato   +9 more
doaj   +1 more source

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Acta Neuropathologica Communications, 2022
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores ...
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro   +33 more
doaj   +1 more source

Addition of glomerular lesion severity improves the value of anemia status for the prediction of renal outcomes in Chinese patients with type 2 diabetes

Renal Failure, 2022
We aimed to determine the utility of biopsy data and anemia for the prediction of renal outcomes in Chinese patients with type 2 diabetes. In total, 441 Chinese patients with type 2 diabetes and biopsy-confirmed diabetic nephropathy (DN) were enrolled in
Lijun Zhao, Qianqian Han, Li Zhou, Lin Bai, Yiting Wang, Yucheng Wu, Honghong Ren, Yutong Zou, Shuangqing Li, Qiaoli Su, Huan Xu, Lin Li, Zhonglin Chai, Mark E. Cooper, Nanwei Tong, Jie Zhang, Fang Liu   +16 more
doaj   +1 more source