Results 51 to 60 of about 880 (137)

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression

CNS Neuroscience &Therapeutics, Volume 30, Issue 10, October 2024.
The current study is the first to utilize tandem mass tag (TMT)‐labeled liquid chromatography‐mass spectrometry (LC–MS/MS)‐based proteomics in dysferlinopathy research. The study aimed to explore the proteomic landscape and disease‐related alterations in the muscle tissue proteome of 15 patients with dysferlinopathy with varying degrees of dystrophic ...
Di Wang, Xin‐yi Liu, Qi‐Fang He, Fu‐ze Zheng, Long Chen, Ying Zheng, Ming‐hui Zeng, Yu‐hua Lin, Xin Lin, Hai‐zhu Chen, Min‐ting Lin, Ning Wang, Zhi‐qiang Wang, Feng Lin   +13 more
wiley   +1 more source

Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy

Advanced Science, Volume 11, Issue 31, August 21, 2024.
In this study, a hiPSC‐derived 3D tissue‐engineered model of LGMD2B skeletal muscle is developed and applied to show that calcium handling abnormalities drive multiple contractile and metabolic deficits in dysferlinopathy. This human in vitro model replicates transcriptional signatures and drug responses of diseased muscles from patients and small ...
Alastair Khodabukus, Neel K. Prabhu, Taylor Roberts, Meghan Buldo, Amber Detwiler, Zachary D. Fralish, Megan E. Kondash, George A. Truskey, Timothy R. Koves, Nenad Bursac   +9 more
wiley   +1 more source

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review

Prenatal Diagnosis, Volume 44, Issue 9, Page 1098-1104, August 2024.
Abstract This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis.
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier‐Daire, Nathalie Boutry, Elise Machet, Catherine Vincent‐Delorme   +7 more
wiley   +1 more source

Heparan Sulfate Chain‐Conjugated Laminin‐E8 Fragments Advance Paraxial Mesodermal Differentiation Followed by High Myogenic Induction from hiPSCs

Advanced Science, Volume 11, Issue 26, July 10, 2024.
This study describes the new generation laminin fragments, a recombinant form of a laminin E8 fragment conjugated to the heparan sulfate chains. Taking advantage of the new generation laminin fragments, authors established a highly efficient and xeno‐free protocol for paraxial mesoderm differentiation of hiPSCs followed by high myogenic induction ...
Mingming Zhao, Yukimasa Taniguchi, Chisei Shimono, Tatsuya Jonouchi, Yushen Cheng, Yasuhiro Shimizu, Minas Nalbandian, Takuya Yamamoto, Masato Nakagawa, Kiyotoshi Sekiguchi, Hidetoshi Sakurai   +10 more
wiley   +1 more source

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy

BMC Musculoskeletal Disorders, 2010
Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Porretti Laura, Bresolin Nereo, Belicchi Marzia, Marchesi Chiara, Cogiamanian Filippo, Lerario Alberto, Torrente Yvan   +6 more
doaj   +1 more source

Genotype‐guided cardiac device intervention in LMNA‐related cardiac conduction disorder: The need for timely genetic testing

European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro   +19 more
wiley   +1 more source

On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling

The Journal of Physiology, Volume 602, Issue 9, Page 1893-1910, 1 May 2024.
Abstract figure legend Cardiac and skeletal muscle share many structural and functional similarities and are both classified as striated muscle. Dysferlin plays a diverse role in supporting healthy striated muscle physiology. Due to its protective and regenerative capabilities, dysferlin is particularly important in response to muscle stress or damage.
C. J. Quinn, E. J. Cartwright, A. W. Trafford, K. M. Dibb   +3 more
wiley   +1 more source

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
This study revealed three patients with familial gigantiform cementoma (FGC) carried the heterozygous mutation c.1067G>A (p.Cys356Tyr) in the ANO5 gene which was not found in 8 juvenile ossifying fibromas, 5 polyostotic fibrous dysplasia and 5 florid cemento‐osseous dysplasia.
Zheng Zhou, Ye Zhang, Lijing Zhu, Yajuan Cui, Yan Gao, Chuan‐Xiang Zhou   +5 more
wiley   +1 more source

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

Proceedings of the Japan Academy, Series B, 1999
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no
MATSUMURA, Tsuyoshi, AOKI, Masashi, NAGANO, Atsushi, HAYASHI, Yukiko K., ASADA, Chie, OGAWA, Megumu, YAMANAKA, Gaku, GOTO, Kanako, NAKAGAWA, Masanori, OKA, Hisayoshi, SAHASHI, Ko, KOUHARA, Nobuo, SAITO, Yuko, BROWN, Robert H., NONAKA, Ikuya, ARAHATA, Kiichi   +15 more
openaire   +2 more sources

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source