Results 31 to 40 of about 1,703 (200)

Premature aging of the body - the role of laminopathy [PDF]

Farmacja Polska, 2021
Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska, Zofia Dzierżewicz, Natalia Magdalena Schäfer, Karol Jasiński, Anna Kusakiewicz-Dawid, Dawid Bursy, Urszula Skotnicka-Graca, Radosław Jerzy Balwierz   +7 more
doaj   +1 more source

Mouse models of the laminopathies [PDF]

Experimental Cell Research, 2007
The A and B type lamins are nuclear intermediate filament proteins that comprise the bulk of the nuclear lamina, a thin proteinaceous structure underlying the inner nuclear membrane. The A type lamins are encoded by the lamin A gene (LMNA). Mutations in this gene have been linked to at least nine diseases, including the progeroid diseases Hutchinson ...
Colin L, Stewart, Serguei, Kozlov, Loren G, Fong, Stephen G, Young   +3 more
openaire   +2 more sources

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

, 2021
Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias.
Roman Steckiewicz, Ewa Ostrowska, Madej-Pilarczyk, Agnieszka, Marcin Grabowski, Marchel, Michał, Vincenzo Russo, Ostrowska, Ewa, Tymińska, Agata, Steckiewicz, Roman, Agata Tymińska, Julia Wysińska, Russo, Vincenzo, Grabowski, Marcin, Agnieszka Madej-Pilarczyk, Grzegorz Opolski, Michał Marchel, Opolski, Grzegorz, Wysińska, Julia   +17 more
core   +1 more source

Dilated cardiomyopathy: reconceptualization of the problem

Российский кардиологический журнал, 2019
Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart transplantation.
T. G. Vaykhanskaya, L. N. Sivitskaya, T. V. Kurushko, O. D. Levdansky, N. G. Danilenko   +4 more
doaj   +1 more source

Regulatory role of cathepsin L in induction of nuclear laminopathy in Alzheimer’s disease

, 2022
Experimental and clinical therapies in the field of Alzheimer\u27s disease (AD) have focused on elimination of extracellular amyloid beta aggregates or prevention of cytoplasmic neuronal fibrillary tangles formation, yet these approaches have been ...
Shcholok, Tetiana, Contu, Fabio, Tetiana Shcholok, Mai, Sabine, Pandian Nagakannan, Jun‐Feng Wang, Yan, Riqiang, Nagakannan, Pandian, Del Bigio, Marc R, Benedict C Albensi, Riqiang Yan, Eftekhar Eftekharpour, Fabio Contu, Marc R. Del Bigio, Sabine Mai, Wang, Jun-Feng, Md Golam Sharoar, Sharoar, Md Golam, Il‐Seon Park, Albensi, Benedict C, Park, Il-Seon, Md Imamul Islam, Eftekharpour, Eftekhar, Islam, Md Imamul   +23 more
core   +1 more source

Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients

Cells, 2019
Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes.
Magda Dubińska-Magiera, Katarzyna Kozioł, Magdalena Machowska, Katarzyna Piekarowicz, Daria Filipczak, Ryszard Rzepecki   +5 more
doaj   +1 more source

Pushing the limit on laminopathies

Nature Materials, 2020
Mutations in lamins in skeletal muscle cells have been shown to reduce nuclear stability, increase nuclear envelope rupture, and induce DNA damage and cell death. New research shows that limiting mechanical loads can rescue myofibre function and viability.
Joel C, Eissenberg, Susana, Gonzalo
openaire   +3 more sources

Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]

, 2016
Laminopathy is a disease closely related to deficiency of the nuclear matrix protein lamin A/C or failure in prelamin A processing, and leads to accumulation of the misfold protein causing progeria.
Jiang, Y, Lee, YK, Wing-Hon Kevin Lai, Lai, KWH, Xin-Ru Ran, Kwong-Man Ng, Lau, YM, Chung-Wah Siu, Hung-Fat Tse, Siu, CW, Yee-Man Lau, Ran, X, Tse, HF, Yee-Ki Lee, Ng, KM, Yu Jiang   +15 more
core   +1 more source

PRIMARY (GENETICALLY DETERMINED) DILATION CARDIOMYOPATHY IN A PATIENT WITH NOVEL MUTATION OF LAMIN GENE: CLINICAL AND MORPHOLOGICAL MANAGEMENT

Кардиоваскулярная терапия и профилактика, 2017
The primary diagnosis of “dilation cardiomyopathy” is syndromal, and demands clarification of nosological origins. In the article, the specifics of such diagnostics is discussed.
O. V. Blagova, I. N. Alieva, A. V. Nedostup, V. A. Sulimov, E. A. Kogan, A. G. Shestak, D. A. Zateyshchikov, E. V. Zaklyazminskaya   +7 more
doaj   +1 more source

Consequences of Lmna Exon 4 Mutations in Myoblast Function

Cells, 2020
Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Déborah Gómez-Domínguez, Carolina Epifano, Fernando de Miguel, Albert García Castaño, Borja Vilaplana-Martí, Alberto Martín, Sandra Amarilla-Quintana, Anne T Bertrand, Gisèle Bonne, Javier Ramón-Azcón, Miguel A Rodríguez-Milla, Ignacio Pérez de Castro   +11 more
doaj   +1 more source