Results 11 to 20 of about 3,472 (172)

Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation [PDF]

Frontiers in Cardiovascular Medicine, 2021
LMNA is one of the leading causative genes of genetically inherited dilated cardiomyopathy (DCM). Unlike most DCM-causative genes, which encode sarcomeric or sarcomere-related proteins, LMNA encodes nuclear envelope proteins, lamin A and C, and does not ...
Kenji Onoue, Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma, David Conner, Joshua Gorham, David McKean, Jonathan G. Seidman, Christine E. Seidman, Christine E. Seidman, Yoshihiko Saito   +12 more
doaj   +2 more sources

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations [PDF]

Human Mutation, 2011
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada,
Scharner, Juergen, Brown, Charlotte A., Bower, Matthew, Iannaccone, Susan T., Khatri, Ismail A., Escolar, Diana, Gordon, Erynn, Felice, Kevin, Crowe, Carol A., Grosmann, Carla, Meriggioli, Matthew N., Asamoah, Alexander, Gordon, Ora, Gnocchi, Viola F., Ellis, Juliet A., Mendell, Jerry R., Zammit, Peter S.   +16 more
openaire   +5 more sources

LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. [PDF]

PLoS ONE, 2010
The lamin A/C (LMNA), nuclear intermediate filament proteins, is a basic component of the nuclear lamina. Mutations in LMNA are associated with a broad range of laminopathies, congenital diseases affecting tissue regeneration and homeostasis.
Dan Lu, Hong Lian, Xiaojuan Zhang, Haitao Shao, Lan Huang, Chuan Qin, Lianfeng Zhang   +6 more
doaj   +3 more sources

Construction of HEK293 and C2C12 cell models transfected by LMNA mutant and related intracellular sublocalization of lamin A/C [PDF]

Jichu yixue yu linchuang, 2020
Objective To construct an expression vector of fusion protein from wild type LMNA and mutant and the lentivirus vector of LMNA mutant, to study the expression and sublocalization of lamin A/C and the change of nucleus in HEK293 and C2C12 cells.
TAN Dan-dan, CHAI Jing-yan, LIU Jian-yun, NIE Hong-bing, XIONG Hui, WU Xiang-bin
doaj   +1 more source

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome

Genes
The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolecular interactions, and heterozygous substitutions ...
Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee   +6 more
openaire   +3 more sources

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations [PDF]

, 2022
Mutations in the lamin A/C gene (LMNA) cause dilated cardiomyopathy associated with increased activity of ERK1/2 in the heart. We recently showed that ERK1/2 phosphorylates cofilin-1 on threonine 25 (phospho(T25)-cofilin-1) that in turn disassembles the ...
Aalto-Setälä, Katriina, Hulot, Jean Sébastien, Peccate, Cécile, Jouve, Charlène, Magiera, Maria, M, Cadot, Bruno, Adesse, Daniel, Heliö, Tiina, Mougenot, Nathalie, Janke, Carsten, Le Dour, Caroline, Chatzifrangkeskou, Maria, Di Pasquale, Elisa, Macquart, Coline, Magiera, Maria M., Muchir, Antoine, Crasto, Silvia, Virtanen, Laura, Cardoso, Déborah, Hulot, Jean-Sébastien, Taimen, Pekka   +20 more
core   +1 more source

Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation [PDF]

Nucleus
Over the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle ...
Jason C. Choi
doaj   +2 more sources

Deletion of the Gene Induces Growth Delay and Serum Biochemical Changes in C57BL/6 Mice [PDF]

Asian-Australasian Journal of Animal Sciences, 2014
The A-type lamin deficient mouse line (Lmna−/−) has become one of the most frequently used models for providing insights into many different aspects of A-type lamin function.
J. Ruan, X. G. Liu, H. L. Zheng, J. B. Li, X. D. Xiong, C. L. Zhang, C. Y. Luo, Z. J. Zhou, Q. Shi, Y. G. Weng   +9 more
doaj   +1 more source

LMNA-related dilated cardiomyopathy [PDF]

Oxford Medical Case Reports, 2014
A case of idiopathic dilated cardiomyopathy (DCM) that is likely to be associated with LMNA mutation Arg190Pro in a heterozygote is described. The features of DCM in the patient were conduction disorders, cardiac arrhythmias, progressive heart failure and minor musculoskeletal disturbances.
Vaikhanskaya, Tatiyana, Sivitskaya, Larysa, Danilenko, Nina, Davydenko, Oleg, Kurushka, Tatsiyana, Sidorenko, Irina   +5 more
openaire   +2 more sources

Identification of Genes and Pathways Regulated by Lamin A in Heart

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Mutations in the LMNA gene, encoding LMNA (lamin A/C), causes distinct disorders, including dilated cardiomyopathies, collectively referred to as laminopathies. The genes (coding and noncoding) and regulatory pathways controlled by LMNA in the
Jordi Coste Pradas, Gaelle Auguste, Scot J. Matkovich, Raffaella Lombardi, Suet Nee Chen, Tyrone Garnett, Kyle Chamberlain, Jalish Mahmud Riyad, Thomas Weber, Sanjay K. Singh, Matthew J. Robertson, Cristian Coarfa, Ali J. Marian, Priyatansh Gurha   +13 more
doaj   +1 more source