Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
Ikeda M et al.
Neurogenetics, 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
Sirtuin3 rs28365927 functional variant confers to the high risk of non-alcoholic fatty liver disease in Chinese Han population.
Chen LJ et al.
Lipids in Health and Disease, 2021
Lrp6 Genotype affects Individual Susceptibility to Nonalcoholic Fatty Liver Disease and Silibinin Therapeutic Response via Wnt/β-catenin-Cyp2e1 Signaling.
Chen LJ et al.
International Journal of Biological Sciences, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 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
MTTP polymorphisms and hepatic steatosis in individuals chronically infected with hepatitis C virus.
Prata TVG et al.
Archives of Virology, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.
Walsh MT et al.
Critical Reviews in Clinical Laboratory Sciences, 2017
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
Walsh MT et al.
Biochimica Et Biophysica Acta, 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
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
Di Filippo M et al.
Journal of Hepatology, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 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
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L et al.
Gene, 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
Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
Drenos F et al.
Human Molecular Genetics, 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
Abetalipoproteinemia: two case reports and literature review.
Zamel R et al.
Orphanet Journal of Rare Diseases, 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
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Di Leo E et al.
Atherosclerosis, 2005
Influence of microsomal triglyceride transfer protein promoter polymorphism -493 GT on fasting plasma triglyceride values and interaction with treatment response to atorvastatin in subjects with heterozygous familial hypercholesterolaemia.
García-García AB et al.
Pharmacogenetics and Genomics, 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
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