Results 91 to 100 of about 8,751 (233)

Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology

European Journal of Histochemistry, 2009
The present review summarizes recent cytochemical findings on the functional organization of the nuclear domains, with a particular emphasis on the relation between nuclear envelope- associated proteins and chromatin.
NM Maraldi, G Lattanzi, P Sabatelli, A Ognibene, M Columbaro, C Capanni, C Rutigliano, E Mattioli, S Squarzoni   +8 more
doaj   +1 more source

Manifestações Cardíacas nas Doenças Neuromusculares [PDF]

, 2010
RESUMO As distrofi as musculares são um grupo heterogéneo de doenças que se associam a alterações cardíacas (cardiomiopatia, arritmias), que podem ser determinantes no prognóstico destes doentes.
Álvares, S.
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A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death

Pharmacogenomics and Personalized Medicine, 2019
Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4 1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China ...
Kong D, Zhan Y, Liu C, Hu Y, Zhou Y, Luo J, Gu L, Zhou X, Zhang Z   +8 more
doaj  

Emerin increase in regenerating muscle fibers

European Journal of Histochemistry, 2009
The fate of emerin during skeletal muscle regeneration was investigated in an animal model by means of crush injury. Immunofluorescence, immunoblotting and mRNA analysis demonstrated that emerin level is increased in regenerating rat muscle fibers with ...
S Squarzoni, P Sabatelli, C Capanni, G Lattanzi, C Rutigliano, M Columbaro   +5 more
doaj   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
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Lamin A/C Haploinsufficiency Modulates the Differentiation Potential of Mouse Embryonic Stem Cells [PDF]

, 2013
BACKGROUND: Lamins are structural proteins that are the major determinants of nuclear architecture and play important roles in various nuclear functions including gene regulation and cell differentiation.
Chaturvedi, P., Kumar, S., Kumaran, R. I., Parnaik, V. K., Sehgal, P.   +4 more
core   +2 more sources

Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]

, 2014
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee, Jaalouk, Diana E., Lammerding, Jan, Vartiainen, Maria K.   +3 more
core   +1 more source

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]

, 2017
Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George, Herrmann, Harald, Isermann, Philipp, Jaalouk, Diana E., Lammerding, Jan, Lombardi, Maria L., Mauermann, Monika, Wallrath, Lori L., Zwerger, Monika   +8 more
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Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies [PDF]

, 2010
Meeting participants: Rosário dos Santos, Porto, PortugalIntroduction: A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice ...
Abbs, S., Bakker, E., Ferlini, A., Mueller, C.R., Sejersen, T., Tuffery-Giraud, S.   +5 more
core   +2 more sources

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy

American Journal of Perinatology Reports, 2016
Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada   +9 more
doaj   +1 more source