Results 1 to 10 of about 1,238 (171)
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 +2 more
exaly +5 more sources
Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish [PDF]
Scientific ReportsLamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Yung-Che Tseng +2 more
exaly +3 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
Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA‐Related Cardiomyopathy [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground 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 +12 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 MetabolismLaminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system.
Aslihan Pekmezci +2 more
doaj +2 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
Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice [PDF]
Cell Death DiscoveryLamins 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 +3 more
doaj +2 more sources
Clustering cell nuclei on microgrooves for disease diagnosis using deep learning [PDF]
Scientific ReportsVarious 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 +5 more
doaj +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