Results 31 to 40 of about 22,553 (288)

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

Nature Communications, 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 ...
C. Le Dour, M. Chatzifrangkeskou, C. Macquart, M. Magiera, C. Peccate, C. Jouve, Laura Virtanen, T. Heliö, K. Aalto-Setälä, Silvia Crasto, B. Cadot, Déborah Cardoso, N. Mougenot, Daniel Adesse, E. Di Pasquale, J. Hulot, P. Taimen, C. Janke, A. Muchir   +18 more
semanticscholar   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice

Nucleus, 2023
The Lmna knockout mouse (Lmna–/–) created by Sullivan and coworkers in 1999 has been widely used to examine lamin A/C function. The knockout allele contains a deletion of Lmna intron 7–exon 11 sequences and was reported to be a null allele.
Joonyoung R. Kim, Paul H. Kim, Ashley Presnell, Yiping Tu, Stephen G. Young   +4 more
doaj   +1 more source

Deletion of the Lmna gene in fibroblasts causes senescence-associated dilated cardiomyopathy by activating the double-stranded DNA damage response and induction of senescence-associated secretory phenotype

The Journal of Cardiovascular Aging, 2022
Introduction: Mutations in the LMNA gene, encoding Lamin A/C (LMNA), are established causes of dilated cardiomyopathy (DCM). The phenotype is typically characterized by progressive cardiac conduction defects, arrhythmias, heart failure, and premature ...
L. Rouhi, Gaelle Auguste, Qiong Zhou, R. Lombardi, Melis Olcum, Kimia Pourebrahim, Sirisha M Cheedipudi, Saman Asghar, Kui Hong, M. Robertson, C. Coarfa, Priyatansh Gurha, A. Marian   +12 more
semanticscholar   +1 more source

Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology in Lmna-mutant striated muscle

Human Molecular Genetics, 2022
Mutations in LMNA, the gene encoding A-type lamins, cause laminopathies—diseases of striated muscle and other tissues. The aetiology of laminopathies has been attributed to perturbation of chromatin organization or structural weakening of the nuclear ...
Ei Leen Leong, Nyein Thet Khaing, B. Cadot, Wei Liang Hong, S. Kozlov, Hendrikje Werner, E. Wong, C. Stewart, B. Burke, Yin Loon Lee   +9 more
semanticscholar   +1 more source

Viscoelastic behavior of cardiomyocytes carrying LMNA mutations [PDF]

Biorheology: The Official Journal of the International Society of Biorheology, 2020
BACKGROUND: Laminopathies are genetic diseases caused by mutations in the nuclear lamina. OBJECTIVE: Given the clinical impact of laminopathies, understanding mechanical properties of cells bearing lamin mutations will lead to advancement in the treatment of heart failure.
Daniele Bori, Brisa Peña, Matthew R. G. Taylor, Luisa Mestroni, Romano Lapasin, Orfeo Sbaizero   +5 more
openaire   +3 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

Phosphorylation of Lamin A/C at serine 22 modulates Nav1.5 function

Physiological Reports, 2021
Variants in the LMNA gene, which encodes for Lamin A/C, are associated with cardiac conduction disease (CCD). We previously reported that Lamin A/C variants p.R545H and p.A287Lfs*193, which were identified in CCD patients, decreased peak INa in HEK‐293 ...
Michael A. Olaopa, Tomohiko Ai, Bo Chao, Xiangshu Xiao, Matteo Vatta, Beth A. Habecker   +5 more
doaj   +1 more source

Mechanisms of A-Type Lamin Targeting to Nuclear Ruptures Are Disrupted in LMNA- and BANF1-Associated Progerias

bioRxiv, 2022
Mutations in the genes LMNA and BANF1 can lead to accelerated aging syndromes called progeria. The protein products of these genes, A-type lamins and BAF, respectively, are nuclear envelope (NE) proteins that interact and participate in various cellular ...
R. Sears, K. Roux
semanticscholar   +1 more source

Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts. [PDF]

PLoS ONE, 2011
Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670)
C Herbert Pratt, Michelle Curtain, Leah Rae Donahue, Lindsay S Shopland   +3 more
doaj   +1 more source