Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L530P
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LMNA

NM_170707.4:p.L530P

Associated Papers

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.

Wang Z et al.

Journal of Advanced Research, 2025

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.

Zielińska A et al.

Cells, 2025

Evaluation of lamin A/C mechanotransduction under different surface topography in LMNA related muscular dystrophy.

Dutta S et al.

Cytoskeleton (hoboken, N.j.), 2025

Cardiac phenotypes in LMNA mutations.

Rouhi L

Current Opinion in Cardiology, 2025

Changes in Chromatin Organisation and Mechanotransduction Mediated by Mutant Lamins in Laminopathies.

Nath S et al.

Sub-cellular Biochemistry, 2025

Normal Bone Matrix Mineralization but Altered Growth Plate Morphology in the LmnaG609G/G609G Mouse Model of Progeria.

Blouin S et al.

Aging and Disease, 2024

Cardiac and skeletal muscle manifestations in the G608G mouse model of Hutchinson-Gilford progeria syndrome.

Hong Y et al.

Aging Cell, 2024

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.

Bhide S et al.

Genes, 2024

Skeletal phenotypes and molecular mechanisms in aging mice.

Guan Q et al.

Zoological Research, 2024

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

Chang L et al.

Bmc Medical Genomics, 2023

37784143 (PubMed )
Supplement: 12920_2023_1661_MOESM1_ESM.docx

Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.

Pande S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.

Gregory EF et al.

Plos Genetics, 2023

Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.

Chatzifrangkeskou M et al.

American Journal of Physiology. Cell Physiology, 2023

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 2023

Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.

Kim HJ et al.

Frontiers in Cell and Developmental Biology, 2023

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Mechanisms of A-Type Lamin Targeting to Nuclear Ruptures Are Disrupted in LMNA- and BANF1-Associated Progerias.

Sears RM et al.

Cells, 2022

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

At the nuclear envelope of bone mechanobiology.

Birks S et al.

Bone, 2021

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.

Nicolas HA et al.

Cells, 2020

Cytoskeleton stiffness regulates cellular senescence and innate immune response in Hutchinson-Gilford Progeria Syndrome.

Mu X et al.

Aging Cell, 2020

Lamin A/C Mechanotransduction in Laminopathies.

Donnaloja F et al.

Cells, 2020

Consequences of Lmna Exon 4 Mutations in Myoblast Function.

Gómez-Domínguez D et al.

Cells, 2020

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Lamin A/C Cardiomyopathy: Implications for Treatment.

Chen SN et al.

Current Cardiology Reports, 2019

Cellular and Animal Models of Striated Muscle Laminopathies.

Nicolas HA et al.

Cells, 2019

Deciphering Nuclear Mechanobiology in Laminopathy.

Hah J et al.

Cells, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

LMNA-mutated Rabbits: A Model of Premature Aging Syndrome with Muscular Dystrophy and Dilated Cardiomyopathy.

Sui T et al.

Aging and Disease, 2019

Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.

Piekarowicz K et al.

Cells, 2019

Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.

Ortiz Madinaveitia S et al.

Neurologia, 2018

Laminopathies; Mutations on single gene and various human genetic diseases.

Kang SM et al.

Bmb Reports, 2018

Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.

Ahmed MS et al.

Molecular Neurobiology, 2018

Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease.

Brady GF et al.

Gastroenterology, 2018

Invertebrate models of lamin diseases.

Rzepecki R et al.

Nucleus (austin, Tex.), 2018

Nuclear Lamins: Thin Filaments with Major Functions.

de Leeuw R et al.

Trends in Cell Biology, 2018

The Potential of iPSCs for the Treatment of Premature Aging Disorders.

Compagnucci C et al.

International Journal of Molecular Sciences, 2017

Nuclear lamins and progerin are dispensable for antioxidant Nrf2 response to arsenic and cadmium.

Hashimoto K et al.

Cellular Signalling, 2017

Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.

Le Dour C et al.

Human Molecular Genetics, 2017

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.

Brayson D et al.

Nucleus (austin, Tex.), 2017

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Cho KW et al.

Molecules and Cells, 2016

Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation.

Zuela N et al.

Journal of Cell Science, 2016

Molecular insights into the premature aging disease progeria.

Vidak S et al.

Histochemistry and Cell Biology, 2016

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.

Robin JD et al.

Frontiers in Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."