Results 21 to 30 of about 473 (164)
Phenotypic Scoring of C. elegans Laminopathy Models.
, 2023 Phenotypic Scoring of C. elegans Laminopathy Models.
Ellen F. Gregory (5638820) +6 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
doaj +1 more source
Premature aging of the body - the role of laminopathy [PDF]
Farmacja Polska, 2021 Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska +7 more
doaj +1 more source
Preclinical Advances of Therapies for Laminopathies [PDF]
Journal of Clinical Medicine, 2021 Laminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes. Although the diverse pathomechanisms responsible for laminopathies are not fully understood, several therapeutic approaches have ...
Benarroch, Louise +5 more
openaire +3 more sources
SUMO protease SENP6 protects the nucleus from SUMO-induced laminopathy
, 2023 Source Western Blot data for "SUMO protease SENP6 protects the nucleus from SUMO-induced laminopathy" Liczmanska et al 2023 Cell ReportsTHIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE. TO VIEW A LIST OF FILES AND ACCESS THE FILES
Tatham, M (via Mendeley Data)
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, 2021 Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias.
Roman Steckiewicz +17 more
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Mouse models of the laminopathies [PDF]
Experimental Cell Research, 2007 The A and B type lamins are nuclear intermediate filament proteins that comprise the bulk of the nuclear lamina, a thin proteinaceous structure underlying the inner nuclear membrane. The A type lamins are encoded by the lamin A gene (LMNA). Mutations in this gene have been linked to at least nine diseases, including the progeroid diseases Hutchinson ...
Colin L, Stewart +3 more
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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 +4 more
doaj +1 more source
Cells, 2019 Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes.
Magda Dubińska-Magiera +5 more
doaj +1 more source
Pushing the limit on laminopathies
Nature Materials, 2020 Mutations in lamins in skeletal muscle cells have been shown to reduce nuclear stability, increase nuclear envelope rupture, and induce DNA damage and cell death. New research shows that limiting mechanical loads can rescue myofibre function and viability.
Joel C, Eissenberg, Susana, Gonzalo
openaire +3 more sources