Results 21 to 30 of about 18,190 (215)

Membranous glomerulonephritis with an LMNA mutation [PDF]

CEN Case Reports, 2018
We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
Kumi Fujita, Kazuhiro Hatta
openaire   +2 more sources

Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy [PDF]

Clinical Epigenetics, 2021
Abstract Background Dilated cardiomyopathy (DCM) is a serious cardiac heterogeneous pathological disease, which may be caused by mutations in the LMNA gene. Lamins interact with not only lamina-associated domains (LADs) but also euchromatin by alone or associates with the lamina-associated polypeptide 2 alpha (LAP2α ...
Xiaolin Zhang, Xiuli Shao, Ruijia Zhang, Rongli Zhu, Rui Feng   +4 more
openaire   +2 more sources

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

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

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

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

LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction [PDF]

, 2022
LMNA-related muscular dystrophy is an autosomal-dominant progressive disorder caused by mutations in LMNA. LMNA missense mutations are becoming correctable with CRISPR/Cas9-derived tools.
Metzler, E., Krause, A., Wang, H., Escobar, H., Müthel, S., Spuler, S., Wang, Haicui, Haicui Wang, Stefanie Müthel, Metzler, Eric, Müthel, Stefanie, Eric Metzler, Simone Spuler, Helena Escobar, Krause, Anne, Spuler, Simone, Anne Krause, Escobar, Helena   +17 more
core   +3 more sources

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