Keyword Analysis & Research: lmna
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LMNA gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/lmna/
WEBThe LMNA gene provides instructions for making several slightly different proteins called lamins. Learn about this gene and related health conditions.
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LMNA-Related Dilated Cardiomyopathy - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK1674/
WEBJun 12, 2008 · LMNA -related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function preceded (sometimes by many years) by or accompanied by conduction system disease and/or arrhythmias. LMNA -related DCM usually presents in early to mid-adulthood with symptomatic conduction …
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The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms
https://pubmed.ncbi.nlm.nih.gov/32719615/
WEBJul 3, 2020 · Mutations of Lamin A/C gene ( LMNA ) cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs. Heart involvement is frequent and leads to cardiolaminopathy LMNA-dependent cardiomyopathy (LMNA-CMP), a form …
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Frontiers | The Broad Spectrum of LMNA Cardiac Diseases: …
https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2020.00761/full
WEBJul 2, 2020 · Studies on animal models either lacking Lmna gene or transgenic for specific human LMNA variants, together with evidence from human cardiac models generated through iPSC (induced Pluripotent Stem Cell) technology have significantly contributed to increase our knowledge in the field of cardiolaminopathy. Independent investigations …
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Prelamin-A/C - Wikipedia
https://en.wikipedia.org/wiki/Prelamin-A/C
WEBPrelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. [5] [6] [7] Lamin A/C belongs to the lamin family of proteins. Function [ edit] Biogenesis of lamin A in normal cells and the failure to generate mature …
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Identification of Genes and Pathways Regulated by Lamin A in Heart
https://www.ahajournals.org/doi/10.1161/JAHA.119.015690
WEBAug 1, 2020 · Genetic deletion of the Lmna gene, encoding LMNA (lamin A/C) protein, was associated with dysregulation of several thousand coding and noncoding genes in the heart and led to myocardial fibrosis, apoptosis, cardiac dysfunction, and premature death.
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4000 - Gene ResultLMNA lamin A/C [ (human)] - National Center …
https://www.ncbi.nlm.nih.gov/gene/4000
WEBApr 3, 2024 · LMNA associated muscular dystrophy mimicks inflammatory myopathies. LMNA gene mutation is associated with premature aging. Case Report: 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of …
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Lamin A/C: Function in Normal and Tumor Cells - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7764147/
WEBDec 9, 2020 · Lamin A/C is a nuclear protein with many functions in cells, such as maintaining a cell’s structural stability, cell motility, mechanosensing, chromosome organization, gene regulation, cell differentiation, DNA …
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Introduction to LMNA - LMNA Cardiac
https://www.lmnacardiac.org/introduction-to-lmna/
WEBIntroduction to LMNA - LMNA Cardiac. The LMNA gene is like a blueprint for building important parts of our cells. It instructs the body to make proteins called lamin A and C, which are crucial for the structure and stability of a cell's nucleus (the control center of a …
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Lamin A/C Cardiomyopathy | Circulation: Cardiovascular Genetics
https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.117.002004
WEBDec 13, 2017 · As a component of the inner nuclear lamina, LMNA regulates nuclear function and chromatin structure through multiple molecular pathways, and, accordingly, LMNA mutations—more than 200 currently described—result in multiple forms of disease, ranging from almost pure skeletal or cardiac phenotypes to syndromic disease like …
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