Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.Q95H
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MTTP

NM_001386140.1:p.Q95H

Associated Papers

Frequency of genetic variants involved in lipid metabolism and intrahepatic fat.

Magri MC et al.

Einstein (sao Paulo, Brazil), 2024

A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.

Schneider CV et al.

Alimentary Pharmacology & Therapeutics, 2023

37248657 (PubMed )
Supplement: supplement_1.docx

Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Handelman SK et al.

Hepatology Communications, 2022

36098472 (PubMed )
Supplement: HEP4-6-3120-s001.xlsx › ST6

Effect of MTTP -493G/T, I128T, Q95H and Q244E polymorphisms on hepatic steatosis in patients with chronic hepatitis.

Prata TVG et al.

Clinics (sao Paulo, Brazil), 2022

Cardiac expression of the microsomal triglyceride transport protein protects the heart function during ischemia.

Klevstig M et al.

Journal of Molecular and Cellular Cardiology, 2019

MTTP polymorphisms and hepatic steatosis in individuals chronically infected with hepatitis C virus.

Prata TVG et al.

Archives of Virology, 2019

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC4_ERR166308

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene.

Huffman DM et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2012

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

Di Filippo M et al.

Journal of Lipid Research, 2012

Association of polymorphisms in glutamate-cysteine ligase catalytic subunit and microsomal triglyceride transfer protein genes with nonalcoholic fatty liver disease.

Hashemi M et al.

Dna and Cell Biology, 2011

Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Drenos F et al.

Human Molecular Genetics, 2009

19336475 (PubMed )
Supplement: ddp159_1.pdf

MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort.

Böhme M et al.

Molecular Genetics and Metabolism, 2008

Absence of relationship between MTTP haplotypes and longevity.

Neville MJ et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2007

Chromosome 4q25, microsomal transfer protein gene, and human longevity: novel data and a meta-analysis of association studies.

Beekman M et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2006

No evidence for an association between extreme longevity and microsomal transfer protein polymorphisms in a longitudinal study of 1651 nonagenarians.

Bathum L et al.

European Journal of Human Genetics : Ejhg, 2005

Allelic polymorphism -491A/T in apo E gene modulates the lipid-lowering response in combined hyperlipidemia treatment.

García-Otín AL et al.

European Journal of Clinical Investigation, 2002

Effect of microsomal triglyceride transfer protein gene variants (-493G > T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men.

Talmud PJ et al.

Annals of Human Genetics, 2000

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).

Heath KE et al.

Prenatal Diagnosis, 1997

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Narcisi TM et al.

American Journal of Human Genetics, 1995

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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."