Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q656_S657Splc
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LMNA

NM_170707.4:p.Q656_S657Splc

Associated Papers

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.

Harhouri K et al.

Cells, 2022

Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.

Wang J et al.

Frontiers in Pediatrics, 2022

A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.

Erdos MR et al.

Nature Medicine, 2021

Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.

Saxena S et al.

Geroscience, 2020

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.

Frankel D et al.

Aging Cell, 2018

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

Harhouri K et al.

Embo Molecular Medicine, 2017

28674081 (PubMed )
Supplement: EMMM-9-1294-s006.pdf

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.

Bar DZ et al.

Journal of Medical Genetics, 2017

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K et al.

Cells, 2016

Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes.

Kreienkamp R et al.

Oncotarget, 2016

27145372 (PubMed )
Supplement: oncotarget-07-30018-s001.pdf

Hutchinson-Gilford progeria syndrome.

Ullrich NJ et al.

Handbook of Clinical Neurology, 2015

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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."