Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S636S
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LMNA

NM_170707.4:p.S636S

Associated Papers

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Cortázar MA et al.

Biorxiv : the Preprint Server for Biology, 2025

41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression

Metabolic syndrome and underlying genetic determinants-A systematic review.

Rana S et al.

Journal of Diabetes and Metabolic Disorders, 2022

Genetics of diabetic neuropathy: Systematic review, meta-analysis and trial sequential analysis.

Zhao Y et al.

Annals of Clinical and Translational Neurology, 2019

31557408 (PubMed )
Supplement: ACN3-6-1996-s004.docx

LMNA gene single nucleotide polymorphisms in dilated cardiomyopathy of Han children.

Xie LJ et al.

International Journal of Clinical and Experimental Medicine, 2015

Potential therapeutic approaches for modulating expression and accumulation of defective lamin A in laminopathies and age-related diseases.

Zhavoronkov A et al.

Journal of Molecular Medicine (berlin, Germany), 2012

Genotype of the LMNA 1908C>T variant is associated with generalized obesity in Asian Indians in North India.

Sharma M et al.

Clinical Endocrinology, 2011

Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.

Fontaine-Bisson B et al.

Journal of Molecular Medicine (berlin, Germany), 2010

A promoter polymorphism of lamin A/C gene is an independent genetic predisposition to arterial stiffness in a Japanese general population (the Tanno and Sobetsu study).

Akasaka H et al.

Journal of Atherosclerosis and Thrombosis, 2009

Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

Mesa JL et al.

Diabetes, 2007

Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes.

Liang H et al.

Clinical Endocrinology, 2005

Variation in the lamin A/C gene: associations with metabolic syndrome.

Steinle NI et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004

Laminopathies and atherosclerosis.

Al-Shali KZ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004

The Val81 missense mutation of the melanocortin 3 receptor gene, but not the 1908c/T nucleotide polymorphism in lamin A/C gene, is associated with hyperleptinemia and hyperinsulinemia in obese Greek caucasians.

Yiannakouris N et al.

Journal of Endocrinological Investigation, 2004

Neurodegenerative disorders associated with diabetes mellitus.

Ristow M

Journal of Molecular Medicine (berlin, Germany), 2004

Genes, environment and Oji-Cree type 2 diabetes.

Hegele RA et al.

Clinical Biochemistry, 2003

An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese.

Murase Y et al.

Metabolism: Clinical and Experimental, 2002

Common genomic variation in LMNA modulates indexes of obesity in Inuit.

Hegele RA et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians.

Hegele RA et al.

Physiological Genomics, 2000

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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."