Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Frequency of genetic variants involved in lipid metabolism and intrahepatic fat.
Magri MC et al.
Einstein (sao Paulo, Brazil), 2024
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI et al.
Jhep Reports : Innovation in Hepatology, 2023
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.
Schneider CV et al.
Alimentary Pharmacology & Therapeutics, 2023
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
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Vujkovic M et al.
Nature Genetics, 2022
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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Machine learning enables new insights into genetic contributions to liver fat accumulation.
Haas ME et al.
Cell Genomics, 2021
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Gao C et al.
Genetic Epidemiology, 2021
The association between SNPs rs1800591 and rs3816873 of the MTTP gene and nonalcoholic fatty liver disease: A meta-analysis.
Tan J et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 2020
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
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
The Association between Pediatric NAFLD and Common Genetic Variants.
Umano GR et al.
Children (basel, Switzerland), 2017
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.
Walsh MT et al.
Critical Reviews in Clinical Laboratory Sciences, 2017
Fatty Acid Binding Protein-1 (FABP1) and the Human FABP1 T94A Variant: Roles in the Endocannabinoid System and Dyslipidemias.
Schroeder F et al.
Lipids, 2016
MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.
Hsiao PJ et al.
Bmc Medical Genetics, 2015
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
Walsh MT et al.
Circulation. Cardiovascular Genetics, 2015
Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Chinese subjects.
Tian Y et al.
Lipids, 2015
Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.
Hooper AJ et al.
Circulation Research, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Variation in genes related to hepatic lipid metabolism and changes in waist circumference and body weight.
Meidtner K et al.
Genes & Nutrition, 2014
MTTP polymorphisms and susceptibility to non-alcoholic fatty liver disease in a Han Chinese population.
Peng XE et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2014
Genetic variants of microsomal triglyceride transfer protein (MTTP) are associated with metabolic syndrome in schizophrenic patients treated with atypical antipsychotics.
Liou YJ et al.
Journal of Clinical Psychopharmacology, 2013
Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study.
di Giuseppe R et al.
Bmc Medical Genetics, 2013
Microsomal triglyceride transfer protein gene -493G/T polymorphism and its association with serum lipid levels in Bama Zhuang long-living families in China.
Pan SL et al.
Lipids in Health and Disease, 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
Allele-specific regulation of MTTP expression influences the risk of ischemic heart disease.
Aminoff A et al.
Journal of Lipid Research, 2010
Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans.
Jun DW et al.
European Journal of Gastroenterology & Hepatology, 2009
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
Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene.
Rubin D et al.
Human Mutation, 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
The Ile128Thr polymorphism influences stability and ligand binding properties of the microsomal triglyceride transfer protein.
Ledmyr H et al.
Journal of Lipid Research, 2006
A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels.
Rubin D et al.
Journal of Human Genetics, 2006
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Di Leo E et al.
Atherosclerosis, 2005
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.
Lancellotti S et al.
Biochimica Et Biophysica Acta, 2004
Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration.
Berthier MT et al.
Journal of Human Genetics, 2004
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
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Sani MN et al.
Annals of Hepatology, 0