Results 81 to 90 of about 22,553 (288)

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations

Frontiers in Physiology, 2021
Mutations in the LMNA gene (encoding lamin A/C) are a significant cause of familial arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable phenotypic variability in disease onset, rate of progression, arrhythmias, and ...
Jiajia Yang, M. Argenziano, Mariana Burgos Angulo, Alexander C. Bertalovitz, M. Beidokhti, Thomas V. McDonald   +5 more
semanticscholar   +1 more source

From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy

Cell communication and signaling : CCS
Severe cardiac remodeling leading to heart failure in individuals harboring pathogenic LMNA variants, known as cardiolaminopathy, poses a significant clinical challenge. Currently, there is no effective treatment for lamin-related diseases. Exploring the
R. J. A. Veltrop, M. M. Kukk, K. Topouzidou, L. Didden, A. Muchir, F. V. van Steenbeek, L. J. Schurgers, M. Harakalova   +7 more
semanticscholar   +1 more source

The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype

Frontiers in Physiology, 2020
Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs.
Silvia Crasto, Ilaria My, E. Di Pasquale
semanticscholar   +1 more source

Mammalian telomeres and their partnership with lamins [PDF]

, 2016
Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins.
BURLA, ROMINA, LA TORRE, MATTIA, SAGGIO, Isabella   +2 more
core   +1 more source

Collagen expression in fibroblasts with a novel LMNA mutation [PDF]

Biochemical and Biophysical Research Communications, 2007
Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features.
Dru F. Leistritz, David Macgregor, Paul Dancey, Lesley Turner, Desiree Nguyen, Junko Oshima, George M. Martin, Kamal Ohson   +7 more
openaire   +3 more sources

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

Targeting c‐Myc transactivation by LMNA inhibits tRNA processing essential for malate‐aspartate shuttle and tumour progression

Clinical and Translational Medicine
Background A series of studies have demonstrated the emerging involvement of transfer RNA (tRNA) processing during the progression of tumours. Nevertheless, the roles and regulating mechanisms of tRNA processing genes in neuroblastoma (NB), the prevalent
Jian-qun Wang, Mei Hong, Yang Cheng, Xiaojing Wang, Dan Li, Guo Chen, Banghe Bao, Jiyu Song, X.-l. Du, Chunhui Yang, Liduan Zheng, Q. Tong   +11 more
semanticscholar   +1 more source

Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants

Journal of Clinical Medicine, 2021
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease.
Valentina Ferradini, Joseph Cosma, F. Romeo, C. De Masi, M. Murdocca, P. Spitalieri, Sara Mannucci, Giovanni Parlapiano, F. Di Lorenzo, A. Martino, F. Fedele, L. Calò, G. Novelli, F. Sangiuolo, R. Mango   +14 more
semanticscholar   +1 more source

Nuclear rupture at sites of high curvature compromises retention of DNA repair factors. [PDF]

, 2018
The nucleus is physically linked to the cytoskeleton, adhesions, and extracellular matrix-all of which sustain forces, but their relationships to DNA damage are obscure. We show that nuclear rupture with cytoplasmic mislocalization of multiple DNA repair
Alshareeda, Alvey, Andrea J. Liu, Broers, Burma, Buxboim, Buxboim, Capo-chichi, Chang, Charlotte R. Pfeifer, Coffinier, Cory M. Alvey, Cumming, Darzynkiewicz, Das, Dazhen Liu, de la Rosa, De Vos, Denais, Dennis E. Discher, Dingal, Docheva, Elosegui-Artola, Fong, Frigault, Grundy, Gudmundsdottir, Harada, Harding, Hatch, Hategan, Hernandez, Irena L. Ivanovska, Irianto, Ivanovska, Jerome Irianto, Jiazheng Ji, Kaspi, Kuangzheng Zhu, Lammerding, Larrieu, Levental, Lucas Smith, Nuciforo, Odde, Oh, Raab, Rachel R. Bennett, Roger A. Greenberg, Saez, Samudram, Sangkyun Cho, Schneider, Seluanov, Shin, Soubeyrand, Staszewski, Swift, Takaki, Tamiello, Tang, Turgay, Wang, Yuntao Xia, Álvarez-Quilón   +64 more
core   +2 more sources

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]

, 2016
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl, Caballero, Ricardo, Cabello, Nuria, Calvo, Conrado J., González Gómez, Cristina, Gordon, Leslie B., Guadix, Juan A., Gúzman Martínez, Gabriela, Herraiz Martínez, Adela, Jiménez Borreguero, Luís J., Llach, Anna, López Otín, Carlos, Osorio, Fernando G., Riveras Torres, Jose, Vallmitjana Lees, Alexander   +14 more
core   +2 more sources