Results 31 to 40 of about 14,545 (178)

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

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

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

Reactivation of autophagy amelioratesLMNAcardiomyopathy [PDF]

Autophagy, 2013
Mutations in the LMNA gene, which encodes lamin A and C (lamin A/C), cause a diverse spectrum of tissue-selective diseases termed laminopathies. The most prevalent form affects striated muscles as dilated cardiomyopathy with variable skeletal muscle involvement, which includes autosomal Emery-Dreifuss muscular dystrophy.
Jason C, Choi, Howard J, Worman
openaire   +2 more sources

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

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +1 more source

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

Collagen expression in fibroblasts with a novel LMNA mutation [PDF]

Biochemical and Biophysical Research Communications, 2007
Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features.
Desiree, Nguyen, Dru F, Leistritz, Lesley, Turner, David, MacGregor, Kamal, Ohson, Paul, Dancey, George M, Martin, Junko, Oshima   +7 more
openaire   +2 more sources

Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases

Endocrine Journal
Familial partial lipodystrophy (FPLD) is a rare inherited disorder characterized by limb adipose tissue atrophy and metabolic abnormalities, including severe insulin resistance.
Takuya Kitamura, Toru Kusakabe, Yuki Ishihara, Tetsuya Tagami, Kazuwa Nakao   +4 more
doaj   +1 more source

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia.
Chelsea Lee, Sangkyun Cho, Celine Lai, Sushma Shenoy, Randall Vagelos, Joseph C. Wu   +5 more
doaj   +1 more source