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Deciphering Nuclear Mechanobiology in Laminopathy [PDF]
Cells, 2019 Extracellular mechanical stimuli are translated into biochemical signals inside the cell via mechanotransduction. The nucleus plays a critical role in mechanoregulation, which encompasses mechanosensing and mechanotransduction.
Jungwon Hah, Dong-Hwee Kim
exaly +6 more sources
Clinical Case Reports (discontinued), 2021 The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Arash Pooladi, Saeed Farajzadeh Valilou
exaly +2 more sources
Lamin A/C Mechanotransduction in Laminopathies
Cells, 2020 Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins ...
Francesca Donnaloja +3 more
doaj +3 more sources
Adipocyte, 2019 We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA ...
Yingzi He, Zhe Wang, Xihua Lin
exaly +2 more sources
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 +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 +2 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
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Cells, 2023 Oxidative stress is a physiological condition that arises when there is an imbalance between the production of reactive oxygen species (ROS) and the ability of cells to neutralize them.
Lidya Kristiani, Youngjo Kim
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Frontiers in Endocrinology, 2021 PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of
Carolina Cecchetti +7 more
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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 +13 more
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