Results 1 to 10 of about 23,103 (221)

UBC9-mediated regulation of K144 ubiquitination of Lamin A and its implications for hepatocellular carcinoma [PDF]

Journal of Translational Medicine
Background Hepatocellular carcinoma (HCC) is a lethal malignancy with limited treatment options. UBC9, the sole E2 conjugating enzyme in the SUMOylation pathway, is frequently overexpressed in HCC, yet its specific role in hepatocarcinogenesis remains ...
QingShui Wang, Ziqiang Liao, Hao Zhang, Ziyi Jin, Zhuoqin Zhong, Xinji Gao, YiMin Huang, Menghua Qiu, Wudan Ren, Yunjia Liu, Liyan Zhang, Runjing Fan, Yaqian Feng, Kunmu Zhang, Yehuda G. Assaraf, Yao Lin   +15 more
doaj   +2 more sources

Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. [PDF]

PLoS ONE, 2012
Lmna(-/-) mice display multiple tissue defects and die by 6-8 weeks of age reportedly from dilated cardiomyopathy with associated conduction defects. We sought to determine whether restoration of lamin A in cardiomyocytes improves cardiac function and ...
Richard L Frock, Steven C Chen, Dao-Fu Da, Ellie Frett, Carmen Lau, Christina Brown, Diana N Pak, Yuexia Wang, Antoine Muchir, Howard J Worman, Luis F Santana, Warren C Ladiges, Peter S Rabinovitch, Brian K Kennedy   +13 more
doaj   +1 more source

Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

Galicia Clínica, 2021
UETeM-Molecular Pathology Group, IDIS-CIMUS (Centro de Investigación en Medicina Molecular y Enfermedades Crónicas), Universidadede Santiago de Compostela, Galiza.
David Araújo Vilar, Antía Fernández Pombo   +1 more
doaj   +1 more source

Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation

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   +1 more source

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

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

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

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