Associated Papers
A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.
Kim D et al.
Current Issues in Molecular Biology, 2023
38132465 (PubMed )
Supplement: cimb-45-00619-s001.zip › cimb-2765337-supplementary.pdf
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
37248657 (PubMed )
Supplement: supplement_1.docx
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Sone J et al.
Acta Neuropathologica Communications, 2023
37131242 (PubMed )
Supplement: 40478_2023_1564_MOESM1_ESM.xlsx › Table_3
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
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
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
The Association between Pediatric NAFLD and Common Genetic Variants.
Umano GR et al.
Children (basel, Switzerland), 2017
Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.
Dai D et al.
Plos One, 2017
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
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
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
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
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