Results 31 to 40 of about 3,472 (172)

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

Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy. [PDF]

PLoS ONE, 2011
Dilated cardiomyopathy (DCM), characterized by left ventricular dilatation and systolic dysfunction, constitutes a significant cause for heart failure, sudden cardiac death or need for heart transplantation.
Marko Sysi-Aho, Juha Koikkalainen, Tuulikki Seppänen-Laakso, Maija Kaartinen, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Margareta Antila, Kirsi Lauerma, Eeva Reissell, Raija Jurkko, Jyrki Lötjönen, Tiina Heliö, Matej Orešič   +13 more
doaj   +1 more source

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Nucleus, 2023
Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis   +5 more
doaj   +1 more source

Mapping the contact surfaces in the Lamin A:AIMP3 complex by hydrogen/deuterium exchange FT-ICR mass spectrometry.

PLoS ONE, 2017
Aminoacyl-tRNA synthetases-interacting multifunctional protein3 (AIMP3/p18) is involved in the macromolecular tRNA synthetase complex via its interaction with several aminoacyl-tRNA synthetases.
Yeqing Tao, Pengfei Fang, Sunghoon Kim, Min Guo, Nicolas L Young, Alan G Marshall   +5 more
doaj   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

Frontiers in Cardiovascular Medicine, 2022
Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina, Kseniya Perepelina, Anastasia Zaytseva, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Malashicheva, Anna Kostareva, Anna Kostareva   +10 more
doaj   +1 more source

Identification of novel RNA isoforms of LMNA [PDF]

Nucleus, 2017
The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing.
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam, Tom Misteli   +5 more
openaire   +2 more sources

Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. [PDF]

PLoS ONE, 2010
Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies.
Stephanie K Mewborn, Megan J Puckelwartz, Fida Abuisneineh, John P Fahrenbach, Yuan Zhang, Heather MacLeod, Lisa Dellefave, Peter Pytel, Sara Selig, Christine M Labno, Karen Reddy, Harinder Singh, Elizabeth McNally   +12 more
doaj   +1 more source

LMNA Variants and Risk of Adult-Onset Cardiac Disease

, 2022
Background: Genetic variants in LMNA may cause cardiac disease, but population-level contributions of variants to cardiac disease burden are not well-characterized.
Pirruccello, James P., Weng, Lu-Chen, Halford, Jennifer L., Choi, Seung Hoan, Morrill, Valerie N., Lazarte, Julieta, Jurgens, Sean J., Khurshid, Shaan, Lubitz, Steven A., Nauffal, Victor, Hegele, Robert A., Ellinor, Patrick T., Lunetta, Kathryn L.   +12 more
core   +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.
Wang, Haicui, Haicui Wang, Helena Escobar, Stefanie Müthel, Metzler, Eric, Krause, Anne, Spuler, Simone, Müthel, Stefanie, Eric Metzler, Simone Spuler, Anne Krause, Escobar, Helena   +11 more
core   +3 more sources

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration

BMC Medical Genomics, 2023
LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies.
Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wang   +6 more
doaj   +1 more source