Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L647R
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LMNA

NM_170707.4:p.L647R

Associated Papers

Stem cell-associated osteogenic deficiency causes craniofacial deformities with progeroid accumulation of prelamin A.

Li K et al.

Jci Insight, 2026

Prelamin A Does Not Promote Atherosclerosis or Vascular Smooth Muscle Loss.

Wang Y et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic and pharmacological modulation of lamin A farnesylation determines its function and turnover.

Foo MXR et al.

Aging Cell, 2024

Prelamin A and ZMPSTE24 in premature and physiological aging.

Worman HJ et al.

Nucleus (austin, Tex.), 2023

Impaired end joining induces cardiac atrophy in a Hutchinson-Gilford progeria mouse model.

Chen Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.

Schena E 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

Filamentous nuclear actin regulation of PML NBs during the DNA damage response is deregulated by prelamin A.

Cobb AM et al.

Cell Death & Disease, 2022

Progerin modulates the IGF-1R/Akt signaling involved in aging.

Jiang B et al.

Science Advances, 2022

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

Sears RM et al.

Cells, 2022

Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.

Wang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

The role of prelamin A post-translational maturation in stress response and 53BP1 recruitment.

Capanni C et al.

Frontiers in Cell and Developmental Biology, 2022

Preclinical Advances of Therapies for Laminopathies.

Benarroch L et al.

Journal of Clinical Medicine, 2021

Protein structural and mechanistic basis of progeroid laminopathies.

Marcelot A et al.

The Febs Journal, 2021

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

Lamin A involvement in ageing processes.

Cenni V et al.

Ageing Research Reviews, 2020

PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation.

Santi S et al.

Cells, 2020

Prelamin A mediates myocardial inflammation in dilated and HIV-associated cardiomyopathies.

Brayson D et al.

Jci Insight, 2019

Complex effects of laminopathy mutations on nuclear structure and function.

Ho R et al.

Clinical Genetics, 2019

Statins and Histone Deacetylase Inhibitors Affect Lamin A/C - Histone Deacetylase 2 Interaction in Human Cells.

Mattioli E et al.

Frontiers in Cell and Developmental Biology, 2019

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.

Spear ED et al.

Disease Models & Mechanisms, 2018

Autophagic Removal of Farnesylated Carboxy-Terminal Lamin Peptides.

Lu X et al.

Cells, 2018

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.

Cenni V et al.

Ageing Research Reviews, 2018

Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation.

Briand N et al.

Nucleus (austin, Tex.), 2018

The Pathogenesis and Therapies of Striated Muscle Laminopathies.

Brull A et al.

Frontiers in Physiology, 2018

Chrom3D: three-dimensional genome modeling from Hi-C and nuclear lamin-genome contacts.

Paulsen J et al.

Genome Biology, 2017

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

Barateau A et al.

Plos One, 2017

Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.

Angori S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017

Prelamin A impairs 53BP1 nuclear entry by mislocalizing NUP153 and disrupting the Ran gradient.

Cobb AM et al.

Aging Cell, 2016

27464478 (PubMed )
Supplement: ACEL-15-1039-s002.doc

Disruption of PCNA-lamins A/C interactions by prelamin A induces DNA replication fork stalling.

Cobb AM et al.

Nucleus (austin, Tex.), 2016

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Tu Y et al.

Nucleus (austin, Tex.), 2016

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Wang Y et al.

Journal of Cell Science, 2016

Mutant lamin A links prophase to a p53 independent senescence program.

Moiseeva O et al.

Cell Cycle (georgetown, Tex.), 2015

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

Evangelisti C et al.

Oncotarget, 2015

The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.

Vadrot N et al.

Human Molecular Genetics, 2015

New look at the role of progerin in skin aging.

Skoczyńska A et al.

Przeglad Menopauzalny = Menopause Review, 2015

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression.

Bertacchini J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.

Capanni C et al.

Cell Cycle (georgetown, Tex.), 2012

Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

Barrowman J et al.

Plos One, 2012

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.

Duband-Goulet I et al.

Experimental Cell Research, 2011

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

Mattioli E et al.

Cell Death and Differentiation, 2011

Downregulation of lamin A by tumor suppressor AIMP3/p18 leads to a progeroid phenotype in mice.

Oh YS et al.

Aging Cell, 2010

Lamin A precursor induces barrier-to-autointegration factor nuclear localization.

Capanni C et al.

Cell Cycle (georgetown, Tex.), 2010

Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.

Ragnauth CD et al.

Circulation, 2010

Emerin-prelamin A interplay in human fibroblasts.

Capanni C et al.

Biology of the Cell, 2009

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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."