Results 71 to 80 of about 8,751 (233)

Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation

Cells
In muscle cells subjected to mechanical stimulation, LINC complex and cytoskeletal proteins are basic to preserve cellular architecture and maintain nuclei orientation and positioning. In this context, the role of lamin A/C remains mostly elusive.
V. Cenni, Camilla Evangelisti, Spartaco Santi, P. Sabatelli, Simona Neri, M. Cavallo, Giovanna Lattanzi, Elisabetta Mattioli   +7 more
semanticscholar   +1 more source

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss Muscular Dystrophy in a long-term follow-up.

Kardiologia polska, 2021
BACKGROUND Emery-Dreifuss Muscular Dystrophy (EDMD) is an extremely rare muscular dystrophy due to either emerinopathy (EMD) or laminopathy (LMNA). The main risk for patients is that of cardiovascular complications.
M. Marchel, A. Madej-Pilarczyk, R. Steckiewicz, P. Stolarz, M. Peller, A. Tymińska, E. Ostrowska, K. Ozierański, P. Balsam, M. Grabowski, G. Opolski   +10 more
semanticscholar   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

Emery-Dreifuss muscular dystrophy: Case report

Revista Portuguesa de Cardiologia (English Edition), 2012
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-Linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances.
Fatima, Saraiva, Dina, Rodrigues, Helena, Andrade, Luís, Negrão, Lino, Gonçalves, António, Marinho, Luís A, Providência   +6 more
openaire   +2 more sources

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model

Genes & Development, 2020
In this study, Harr et al. use C. elegans to investigate the consequences of a missense mutation (Y45C) in lamin A (encoded by LMNA) found in the human Emery-Dreifuss muscular dystrophy (EDMD) syndrome.
Jennifer C. Harr, C. Schmid, Celia Muñoz-Jiménez, Raquel Romero-Bueno, Véronique Kalck, Adriana Gonzalez‐Sandoval, Michael H. Hauer, Jan Padeken, P. Askjaer, Anna Mattout, S. Gasser   +10 more
semanticscholar   +1 more source

Identification of a mutation in a Vietnamese family with Emery-Dreifuss Muscular Dystrophy using whole exome sequencing

ACADEMIA JOURNAL OF BIOLOGY, 2022
Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative neuromuscular disease associated with at least nine genes, including EMD, LMNA, FHL1, TMEM43, SUN1, SUN2, TTN, SYNE1, and SYNE2.
Nguyen Thuy Duong, Dinh Huong Thao, Nguyen Thi Thao, Pham Thi Van Anh, Miyake Noriko, M. Naomichi, N. Van Hai   +6 more
semanticscholar   +1 more source