Results 11 to 20 of about 24,019 (217)

Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy

Science Translational Medicine, 2020
Nazish Sayed, Chun Liu, Joe Z Zhang
exaly   +3 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

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

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent “Lone AF” Patients: Results and Insights

Frontiers in Cardiovascular Medicine, 2022
ObjectiveMutations in the Lamin A/C(LMNA) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare LMNA variants are unknown.
Gabrielle D'Arezzo Pessente, Gabrielle D'Arezzo Pessente, Luciana Sacilotto, Zaine Oliveira Calil, Natalia Quintella Sangiorgi Olivetti, Fanny Wulkan, Théo Gremen Mimary de Oliveira, Anísio Alexandre Andrade Pedrosa, Tan Chen Wu, Denise Tessariol Hachul, Maurício Ibrahim Scanavacca, José Eduardo Krieger, Francisco Carlos da Costa Darrieux, Alexandre da Costa Pereira   +13 more
doaj   +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

Accurate detection of dysmorphic nuclei using dynamic programming and supervised classification [PDF]

, 2017
A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs.
Catrysse, Hannes, De Vos, Winnok, De Vylder, Jonas, Philips, Wilfried, Robijns, Joke, Verschuuren, Marlies   +5 more
core   +9 more sources

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu   +7 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

Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]

, 2018
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources

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