Results 81 to 90 of about 8,751 (233)

Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy

Neurology International, 2018
Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
doaj   +1 more source

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice [PDF]

, 2013
Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies ...
Banerjee, Indroneal, Chen, Ju, Christodoulou, Danos C., Chu, Pao-Hsien, Cui, Ziyou, Domenighetti, Andrea A., Gokhin, David S., Gomes, Aldrin V., Gorham, Joshua M., Guo, Ling T., Lai, Xianyin, Li, Daniel Y., Lieber, Richard L., Parfenov, Michael G., Peter, Angela K., Seidman, Christine E., Seidman, Jonathan G., Sheikh, Farah, Shelton, G. Diane, Witzmann, Frank A., Wu, Tongbin   +20 more
core   +2 more sources

Mouse models for understanding the molecular mechanism of bone disease in Hutchinson-Gilford progeria syndrome [PDF]

, 2011
Aging is a complex process affecting all people. Intense research is applied to elucidate the biological basis of aging and disease that develop with aging.
Schmidt, Eva
core   +1 more source

Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins [PDF]

, 2018
Laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. A little investigated hypothesis to explain this is that the mutated proteins or their partners have tissue-specific splice variants.
Capitanchik, Charlotte, Dixon, Charles, Florens, Laurence, Kerr, Alastair R W, Schirmer, Eric C., Swanson, Selene K   +5 more
core   +2 more sources

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

Frontiers in Cell and Developmental Biology, 2023
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar, Sergi Cesar, Sergi Cesar, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Victori Fiol, Victori Fiol, Victori Fiol, Isaac Moll, Isaac Moll, Isaac Moll, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Carlos Ortez, Carlos Ortez, Laura Carrera, Laura Carrera, Jessica Expósito, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +47 more
doaj   +1 more source

Emery-Dreifuss muscular dystrophy presenting as a heart rhythm disorders in children

European Heart Journal, 2021
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects, sinus node dysfunction.
T. Kovalchuk, E. Yakovleva, S. Fetisova, T. Vershinina, T. Pervunina, A. Kostareva, E. Vasichkina   +6 more
semanticscholar   +1 more source

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Journal of the Formosan Medical Association, 2007
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD
Wen-Chen Liang, Chung-Yee Yuo, Chun-Ya Liu, Chee-Siong Lee, Kanako Goto, Yukiko K. Hayashi, Yuh-Jyh Jong   +6 more
doaj   +1 more source

Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies [PDF]

, 2019
Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline-rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the
Capanni, Cristina, Cenni, Vittoria, Faulkner, Georgine, Kojić, Snežana, Lattanzi, Giovanna   +4 more
core   +1 more source

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy

Frontiers in Genetics, 2021
Background: Emery–Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early joint contractures, slowly progressive muscular dystrophy, and cardiac involvement, which includes arrhythmia, dilated cardiomyopathy, hypertrophic ...
D. Song, Xiaomei Li, Wei Wei, Xue-qin Liu, Lin Wu, H. Xiong   +5 more
semanticscholar   +1 more source

Managing childhood acute lymphoblastic leukemia in a child with Emery-Dreifuss muscular dystrophy

Asian Journal of Medical Sciences
Genetics is increasingly being integrated into clinical oncology practice. It is necessary for risk stratification of disease, for prognostication, for recognition of underlying predisposition, and for recognition of potential toxicity and predicting ...
Aishvarya Diptivilasa, Nita Radhakrishnan, S. Verma   +2 more
semanticscholar   +1 more source