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Results: 1 to 6 of 6

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Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease.
Levic DS, Minkel JR, Wang WD, Rybski WM, Melville DB, Knapik EW
(2015) J Mol Med (Berl) 93: 165-76
MeSH Terms: Animals, Animals, Genetically Modified, Body Patterning, Bone and Bones, Brain, Disease Models, Animal, Gastrointestinal Tract, Gene Expression, Gene Expression Regulation, Developmental, Gene Knockdown Techniques, Humans, Hypobetalipoproteinemias, Immunohistochemistry, Lipid Metabolism, Malabsorption Syndromes, Monomeric GTP-Binding Proteins, Organogenesis, Phenotype, Zebrafish
Added February 19, 2015
1 Communities
1 Members
0 Resources
19 MeSH Terms
Identification and characterization of truncated forms of apolipoprotein B in hypobetalipoproteinemia.
Young SG, Krul ES, McCormick S, Farese RV, Linton MF
(1996) Methods Enzymol 263: 120-45
MeSH Terms: Animals, Apolipoproteins B, Blotting, Western, Cell Line, Transformed, Centrifugation, Density Gradient, Chromatography, Chromatography, Gel, DNA, Complementary, Electrophoresis, Polyacrylamide Gel, Genetic Vectors, Heparin, Humans, Hypobetalipoproteinemias, Lipoproteins, HDL, Molecular Weight, Mutation, Recombinant Fusion Proteins, Silver Staining, Transfection
Added May 27, 2014
0 Communities
1 Members
0 Resources
19 MeSH Terms
Familial hypobetalipoproteinemia.
Linton MF, Farese RV, Young SG
(1993) J Lipid Res 34: 521-41
MeSH Terms: Apolipoproteins, Apolipoproteins B, Humans, Hypobetalipoproteinemias, Lipoproteins, Lipoproteins, LDL, Mutation, Phenotype
Added May 27, 2014
0 Communities
1 Members
0 Resources
8 MeSH Terms
Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.
Young SG, Pullinger CR, Zysow BR, Hofmann-Radvani H, Linton MF, Farese RV, Terdiman JF, Snyder SM, Grundy SM, Vega GL
(1993) J Lipid Res 34: 501-7
MeSH Terms: Adult, Aged, Apolipoproteins B, Base Sequence, Cholesterol, Female, Frameshift Mutation, Humans, Hypobetalipoproteinemias, Lipoproteins, VLDL, Male, Middle Aged, Molecular Sequence Data, Mutation
Added May 27, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
Apolipoprotein B gene mutations affecting cholesterol levels.
Farese RV, Linton MF, Young SG
(1992) J Intern Med 231: 643-52
MeSH Terms: Apolipoproteins B, Cholesterol, Gene Expression Regulation, Genetic Variation, Humans, Hypobetalipoproteinemias, Mutation
Added May 27, 2014
0 Communities
1 Members
0 Resources
7 MeSH Terms
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Linton MF, Pierotti V, Young SG
(1992) Proc Natl Acad Sci U S A 89: 11431-5
MeSH Terms: Alleles, Amino Acid Sequence, Animals, Apolipoproteins B, Base Sequence, DNA, Frameshift Mutation, Gene Expression, Genes, Humans, Hypobetalipoproteinemias, In Vitro Techniques, Molecular Sequence Data, Pedigree, RNA, Messenger, Rats, Transcription, Genetic, Tumor Cells, Cultured
Added May 27, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms