Results 21 to 30 of about 1,703 (200)
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
Severe CMD with Novel Mutation in Lamin A/C Gene [PDF]
Pediatric Neurology Briefs, 2010 Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj +2 more sources
Current Topics of Progressive Cardiac Conduction Disease [PDF]
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo +7 more
wiley +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
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 ...
Mojsa, Barbara +5 more
core +2 more sources
Laminopathies and Atherosclerosis [PDF]
Arteriosclerosis, Thrombosis, and Vascular Biology, 2004 Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2 ...
Khalid Z, Al-Shali, Robert A, Hegele
openaire +2 more sources
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
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts [PDF]
, 2018 Significance The lamin proteins are an important component of the nuclear scaffold. Abnormal lamins can cause a variety of disorders called laminopathies, one of which is the premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS).
Stephen T. Lichtenstein +5 more
core +2 more sources
Phenotypic Scoring of C. elegans Laminopathy Models.
, 2023 Phenotypic Scoring of C. elegans Laminopathy Models.
Ellen F. Gregory (5638820) +6 more
core +1 more source