Results 1 to 10 of about 2,390 (199)

Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA‐Related Cardiomyopathy [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Disease‐causative variants in LMNA‐encoded lamin A/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction.
Matteo Castrichini, Ramin Garmany, Konstantinos C. Siontis, Jeremy D. Collins, John P. Bois, Naveen L. Pereira, David J. Tester, Martina Gluscevic, Trung Huynh, Raquel Neves, Andrew N. Rosenbaum, Michael J. Ackerman, John R. Giudicessi   +12 more
doaj   +2 more sources

Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice [PDF]

Cell Death Discovery
Lamins A and C, encoded by the LMNA gene, are nuclear intermediate filaments that provide structural support to the nucleus and contribute to chromatin organization and transcriptional regulation.
Tyler J. Kirby, Hind C. Zahr, Ern Hwei Hannah Fong, Jan Lammerding   +3 more
doaj   +2 more sources

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature [PDF]

Archives of Endocrinology and Metabolism
Laminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system.
Aslihan Pekmezci, Aydeniz Aydin Gumus, Ozge Polat Korkmaz   +2 more
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Clustering cell nuclei on microgrooves for disease diagnosis using deep learning [PDF]

Scientific Reports
Various diseases including laminopathies and certain types of cancer are associated with abnormal nuclear mechanical properties that influence cellular and nuclear deformations in complex environments.
Bettina Roellinger, Francois Thenier, Claire Leclech, Catherine Coirault, Elsa Angelini, Abdul I. Barakat   +5 more
doaj   +2 more sources

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

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   +2 more sources

Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish [PDF]

Scientific Reports
Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Shao-Wei Pan, Horng-Dar Wang, He-Yun Hsiao, Po-Jui Hsu, Yung-Che Tseng, Wen-Chen Liang, Yuh-Jyh Jong, Chiou-Hwa Yuh   +7 more
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Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His

Stem Cell Research, 2021
Cardiac laminopathy caused by mutations in the LMNA gene are common and highly penetrant with a poor prognosis. We have generated a novel human induced pluripotent stem cell(iPSC) lines YCMi003-A from a patient with dilated cardiomyopathy associated with
Jaewon Oh, Sun-Ho Lee, Jungyoon Choi, Jong Rak Choi, Sangwoo Kim, Yun-Ji Cha, Hyo-Kyoung Choi, Dongju Won, Ho-Geun Yoon, Sahng Wook Park, Seok-Min Kang, Seung-Tae Lee, Seung-Hyun Lee   +12 more
doaj   +1 more source

Post-Translational Modification of Lamins: Mechanisms and Functions

Frontiers in Cell and Developmental Biology, 2022
Lamins are the ancient type V intermediate filament proteins contributing to diverse biological functions, such as the maintenance of nuclear morphology, stabilization of chromatin architecture, regulation of cell cycle progression, regulation of spatial-
Mingyue Zheng, Guoxiang Jin, Zhongjun Zhou   +2 more
doaj   +1 more source

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

Clinical Case Reports, 2021
The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Saeed Farajzadeh Valilou, Javad Karimzad Hagh, Mohammad Salimi Asl, Isa Abdi Rad, Masoud Edizadeh, Arash Pooladi   +5 more
doaj   +1 more source

IFN-Aging: Coupling Aging With Interferon Response

Frontiers in Aging, 2022
Chronic inflammation affects many diseases and conditions, including aging. Interferons are a part of the immune defense against viral infections. Paradoxically, various aging tissues and organs from mammalian hosts perpetually accumulate changes brought
Wei Cao
doaj   +1 more source