| 1 | APOB, FHBL1
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| Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
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| Zhong S, Magnolo AL, Sundaram M, Zhou H, Yao EF, Di Leo E, Loria P, Wang S, Bamji-Mirza M, Wang L, McKnight CJ, Figeys D, Wang Y, Tarugi P, Yao Z.
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| J Biol Chem 285(9):6453-64. Epub 2009 Dec 23.PMID: 20032471 2010
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| 2 | APOB
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| The production of 85 kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apoB gene occurs by ALLN-inhibitable protease cleavage during translocation.
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| Srivastava N, Cefalu AB, Noto D, Schonfeld G, Averna M, Srivastava RA.
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| Biochem Biophys Res Commun 398(4):665-70. Epub 2010 Jul 6.
2010
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| 3 | APOB, FHBL1
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| Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
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| Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S, Calandra S, Tarugi P.
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| Mol Genet Metab 96(2):66-72. Epub 2008 Dec 11.
2009
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| 4 | APOB
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| Apolipoprotein B epitopes are present in nuclear preparations of human and mouse cells.
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| Døssing K, Zaina S.
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| Int J Mol Med 24(1):29-33.PMID: 19513531 2009
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| 5 | APOB
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| Fasting and postprandial apolipoprotein B-48 levels in healthy, obese, and hyperlipidemic subjects.
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| Otokozawa S, Ai M, Diffenderfer MR, Asztalos BF, Tanaka A, Lamon-Fava S, Schaefer EJ.
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| Metabolism 58(11):1536-42. Epub 2009 Jul 9.PMID: 19592048 2009
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| 6 | ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
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| Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
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| Rahalkar AR, Hegele RA.
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| Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
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| 7 | APOB, FHBL1
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| Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.
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| Burnett JR, Zhong S, Jiang ZG, Hooper AJ, Fisher EA, McLeod RS, Zhao Y, Barrett PH, Hegele RA, van Bockxmeer FM, Zhang H, Vance DE, McKnight CJ, Yao Z.
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| J Biol Chem 282(33):24270-83. Epub 2007 Jun 22. 2007
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| 8 | APOA1, APOA2, APOB, APOC1, APOC2, APOC3, APOE, CLU
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| Apolipoprotein localization in isolated drusen and retinal apolipoprotein gene expression.
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| Li CM, Clark ME, Chimento MF, Curcio CA.
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| Invest Ophthalmol Vis Sci 47(7):3119-28. 2006
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| 9 | CHAC, MCLDP, XK, FHBL1,FHBL2,ABL, APOB
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| Neuroacanthocytosis.
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| Danek A, Walker RH.
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| Curr Opin Neurol 18(4):386-92. Review. 2005
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| 10 | APOB, FHBL1
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| A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
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| Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z.
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| J Biol Chem 278(15):13442-52. Epub 2003 Jan 27. 2003
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| 11 | FHBL1, APOB
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| Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
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| Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.
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| Hum Mutat 20(2):110-6. 2002
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| 12 | APOB, FHBL1
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| Identification of the proteoglycan binding site in apolipoprotein B48.
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| Flood C, Gustafsson M, Richardson PE, Harvey SC, Segrest JP, Boren J.
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| J Biol Chem 277(35):32228-33. Epub 2002 Jun 17. 2002
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| 13 | FDB, APOB, FHBL1
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| The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
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| Boren J, Ekstrom U, Agren B, Nilsson-Ehle P, Innerarity TL.
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| J Biol Chem 276(12):9214-8. Epub 2000 Dec 13. 2001
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| 14 | FHBL1, APOB
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| Genetic heterogeneity in familial hypobetalipoproteinemia : linkage and non-linkage to the ApoB gene in Caucasian families.
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| Pulai JI, et al.
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| Am J Med Genet 76 : 79-86. 1998
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| 15 | FHBL1, APOB
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| Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.
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| Tybjaerg-Hansen A, et al.
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| N Engl J Med 338 : 1577-1584. 1998
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| 16 | FHBL1, APOB
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| Donor splice mutation (665 + 1 G-T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
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| Pulai JI, et al.
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| Am J Med Genet 80 : 218-220. 1998
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| 17 | FHBL1, APOB
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| Association of the insertion/deletion gene polymorphism of the apolipoprotein B signal peptide with myocardial infarction.
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| Gardemann A, et al.
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| Atherosclerosis 141 : 167-175. 1998
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| 18 | FDB, APOB, FHBL1
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| Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.
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| Boren J, Lee I, Zhu W, Arnold K, Taylor S, Innerarity TL.
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| J Clin Invest 101(5):1084-93. 1998
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| 19 | FHBL1, APOB
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| Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
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| Rabes JP, Varret M, Saint-Jore B, Erlich D, Jondeau G, Krempf M, Giraudet P, Junien C, Boileau C.
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| Hum Mutat 10(2):160-3. 1997
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| 20 | FHBL1, APOB
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| Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene : new definition of the alleles and evolutionary implications.
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| Buresi C, et al.
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| Hum Mol Genet 5 : 61-68. 1996
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| 21 | FHBL1, APOB
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| Identification and molecular analysis of two ApoB gene mutations causinglow plasma cholesterol levels.
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| Welty FK, Ordovas J, Schaefer EJ, Wilson PW, Young SG.
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| Circulation 92 : 2036-2040. 1995
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| 22 | FHBL1, APOB
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| Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
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| Pullinger CR, et al.
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| J Clin Invest 95 : 1225-1234. 1995
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| 23 | FHBL1, APOB
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| Nucleotide sequence analysis of the apolipoprotein B 3' VNTR.
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| Ellsworth DL, et al.
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| Hum Mol Genet 4 : 937-944. 1995
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| 24 | FHBL1, APOB
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| Position-independent transgene expression mediated by boundary elements from the apolipoprotein B chromatin domain.
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| Kalos M, Fournier RE.
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| Mol Cell Biol 15(1):198-207 1995
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| 25 | FHBL1, APOB
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| Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
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| Young SG, et al.
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| Hum Mol Genet 3 : 741-744. 1994
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| 26 | FHBL1, APOB
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| Genetic exclusion of APO-B gene in recessive abetalipoproteinemia.
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| Pessah M, et al.
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| Biochem Biophys Res Commun 190 : 97-103. 1993
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| 27 | FHBL1, APOB
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| Variant mapping of the Apo(B) AT rich minisatellite. Dependence on nucleotide sequence of the copy number variations. Instability of the non-canonical alleles.
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| Desmarais E, et al.
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| Nucleic Acids Res 21 : 2179-2184. 1993
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| 28 | FHBL1, APOB
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| Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.
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| Young SG, et al.
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| J Lipid Res 34 : 501-507. 1993
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| 29 | FHBL1, APOB
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| Apolipoprotein B-32 : a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range.
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| McCormick SPA, et al.
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| Biochim Biophys Acta 1138 : 290-296. 1992
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| 30 | FHBL1, APOB
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| Length and sequence variation in the apolipoprotein B intron 20 Alu repeat.
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| Shriver MD, et al.
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| Genomics 14 : 449-454. 1992
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| 31 | FHBL1, APOB
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| Allele-specific and asymetric polymerase chain reaction amplification in combination : a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100.
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| Schuster H, et al.
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| Analytical Biochem 204 : 22-25. 1992
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| 32 | FHBL1, APOB
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| Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
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| Linton MF, et al.
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| Proc Natl Acad Sci U S A 89 : 11431-11435. 1992
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| 33 | FHBL1, APOB
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| Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.
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| Coresh J, et al.
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| Am J Hum Genet 50 : 1038-1045. 1992
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| 34 | FHBL1, APOB
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| Screening for the apolipoprotein B-100 arginine3500--glutamine mutation in patients with type III hyperlipoproteinemia.
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| Feussner G, et al.
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| Clin Genet 42 : 302-305. 1992
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| 35 | FHBL1, APOB
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| DNA polymorphisms of the apolipoprotein B gene in Chinese coronary artery disease patients.
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| Saha N, et al.
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| Clin Genet 42 : 164-170. 1992
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| 36 | FHBL1, APOB
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| A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.
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| Talmud PJ, et al.
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| Clin Genet 42 : 62-70. 1992
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| 37 | FHBL1, APOB
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| A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
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| Welty FK, et al.
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| J Clin Invest 87 : 1748-1754. 1991
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| 38 | FHBL1, APOB
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| Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.
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| Hardman DA, et al.
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| J Clin Invest 88 : 1722-1729. 1991
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| 39 | FHBL1, APOB
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| Analysis of two different tandem repetitive elements within the human apolipoprotein B gene.
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| Ludwig EH, et al.
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| J Lipid Res 32 : 374-379. 1991
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| 40 | FHBL1, APOB
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| Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31).
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| Young SG, et al.
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| J Clin Invest 85 : 933-942. 1990
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| 41 | FHBL1, APOB
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| An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene.
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| Visvikis S, et al.
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| Hum Genet 84 : 373-375. 1990
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| 42 | FHBL1, APOB
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| Detection by denaturing gradient gel electrophoresis of a new polymorphism in the apolipoprotein B gene.
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| Navajas M, et al.
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| Hum Genet 86 : 91-93. 1990
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| 43 | FHBL1, APOB
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| Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.
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| Huang LS, et al.
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| Am J Hum Genet 46 : 1141-1148. 1990
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| 44 | FHBL1, APOB
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| Sequence polymorphism in the human apoB gene at position 8344.
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| Huang LS, et al.
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| Nucleic Acids Res 18 : 5922. 1990
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| 45 | FHBL1, APOB
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| Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.
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| Ludwig EH, et al.
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| Am J Hum Genet 47 : 712-720. 1990
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| 46 | FHBL1, APOB
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| A unique length polymorphism in the signal peptide region of the apolipoprotein B gene in Mexican-Americans.
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| Boerwinkle E, et al.
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| Nucleic Acids Res 18 : 7193. 1990
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| 47 | FHBL1, APOB
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| Tetranucleotide repeat polymorphism in the apolipoprotein B gene.
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| Zuliani G, et al.
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| Nucleic Acids Res 18 : 4299. 1990
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| 48 | FHBL1, APOB
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| Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
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| Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ.
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| Proc Natl Acad Sci U S A 86 : 587-591. 1989
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| 49 | FHBL1, APOB
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| An MspI RFLP in the APOB promoter.
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| Jones T, Rajput-Williams J, Knott TJ, Scott J.
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| Nucleic Acids Res 17(1):472. 1989
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| 50 | FHBL1, APOB
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| Candidate gene approach to type IIa hypercholesterolaemia.
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| Benlian P, et al.
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| Lancet I : 1201-1202. 1989
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| 51 | FHBL1, APOB
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| High-resolution analysis of a hypervariable region in the human apolipoprotein B gene.
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| Ludwig EH, et al.
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| Am J Hum Genet 45 : 458-464. 1989
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| 52 | FHBL1, APOB
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| Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).
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| Young SG, et al.
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| N Engl J Med 320 : 1604-1610. 1989
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| 53 | FHBL1, APOB
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| Homozygous hypobetalipoproteinemia : transcriptional regulation and 5'-flanking sequence analysis in an apolipoprotein B deficiency state.
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| Ross RS, et al.
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| Biochim Biophys Acta 1004 : 29-35. 1989
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| 54 | FHBL1, APOB
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| Homozygous hypobetalipoproteinemia with spared chylomicron formation.
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| Harano Y, et al.
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| Metabolism 38 : 1-7. 1989
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| 55 | FHBL1, APOB
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| Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction : application to the apolipoprotein B 3' hypervariable region.
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| Boerwinkle E, et al.
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| Proc Natl Acad Sci U S A 86 : 212-216. 1989
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| 56 | FHBL1, APOB
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| Two new ApoB gene polymorphisms: Rs1 and Rs2.
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| Genest JJ, et al.
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| Nucleic Acids Res 16 : 8746. 1988
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| 57 | FHBL1, APOB
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| Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.
|
| Collins DR, et al.
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| Nucleic Acids Res 16 : 8361-8375. 1988
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| 58 | FHBL1, APOB
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| Relationships between DNA and protein polymorphisms of apolipoprotein B.
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| Dunning AM, et al.
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| Hum Genet 78 : 325-329. 1988
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| 59 | APOB
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| Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.
|
| Higuchi K, Hospattankar AV, Law SW, Meglin N, Cortright J, Brewer HB Jr.
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| Proc Natl Acad Sci U S A 85(6):1772-6.PMID: 2450346 1988
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| 60 | FHBL1, APOB
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| Association between epitopes detected by monoclonal antibody BIP-45 and the XbaI polymorphism of apolipoprotein B.
|
| Dunning AM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 609. 1987
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| 61 | FHBL1, HDLA@, APOB
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| DNA polymorphism haplotype analysis of the human apolipoprotein B gene and the apolipoprotein A1-C3-A4 gene cluster.
|
| Antonarakis SE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 571. 1987
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| 62 | FHBL1, APOB
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| The human ApoB-100 gene : ApoB-100 is encoded by a single copy gene in the human genome.
|
| Higuchi K, et al.
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| Biochem Biophys Res Commun 144 : 1332-1339. 1987
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| 63 | FHBL1, ACP1, APOB
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| Close linkage between APOB and ACP1 excluded.
|
| Berg K.
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| (HGM9) Cytogenet Cell Genet 46 : 580. 1987
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| 64 | FDB, APOB, FHBL1
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| Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
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| Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM.
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| Proc Natl Acad Sci U S A 84(19):6919-23. 1987
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| 65 | FHBL1, APOB
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| PvuII RFLP in the 5' of the human apolipoprotein B gene.
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| Frossard PM, et al.
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| Nucleic Acids Res 14 : 4373. 1986
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| 66 | FHBL1, APOB
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| The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene : a useful marker for human chromosome 2.
|
| Barni N, et al.
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| Hum Genet 73 : 313-319. 1986
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| 67 | FHBL1, APOB
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| Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: Assignment of the Ag locus.
|
| Berg K, et al.
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| Proc Natl Acad Sci U S A 83 : 7367-7370. 1986
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| 68 | FHBL1, APOB
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| Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.
|
| Huang LS, et al.
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| Proc Natl Acad Sci U S A 83 : 644-648. 1986
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| 69 | FHBL1, APOB
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| Human apolipoprotein B : chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.
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| Mehrabian M, et al.
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| Somat Cell Mol Genet 12 : 245-254. 1986
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| 70 | FHBL1, APOB
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| RFLPs for the human apolipoprotein B gene : HincII and PvuII.
|
| Darnfors C, et al.
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| Nucleic Acids Res 14 : 7135. 1986
|
| 71 | FHBL1, APOB
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| Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.
|
| Deeb SS, et al.
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| Proc Natl Acad Sci U S A 83 : 419-422. 1986
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| 72 | FHBL1, APOB
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| Two DNA polymorphisms of the human apolipoprotein B gene - a usefulmarker for chromosome 2.
|
| Talmud PJ, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 759. 1985
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| 73 | FHBL1, APOB
|
| Human apolipoprotein B-100 : cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.
|
| Law SW, et al.
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| Proc Natl Acad Sci U S A 82 : 8340-8344. 1985
|
| 74 | FHBL1, APOB
|
| Normotriglyceridemic abetalipoproteinemia in infancy : an isolated apolipoprotein B-100 deficiency.
|
| Takashima Y, et al.
|
| Pediatrics 75 : 541-546. 1985
|
| 75 | FHBL1, APOB
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| The human apolipoprotein B-100 gene : A highly polymorphic gene that maps to the short arm of chromosome 2.
|
| Chan L, et al.
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| Biochem Biophys Res Commun 133 : 248-255. 1985
|
| 76 | FHBL1, APOB
|
| Intestinal steatosis despite B-48 synthesis in a child lacking the B-100 apolipoprotein.
|
| Hyams J, et al.
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| Clin Res 32 : 399A. 1984
|
| 77 | FHBL1, APOB
|
| Normotriglyceridemic abetalipoproteinemia : absence of the B-100 apolipoprotein.
|
| Malloy MJ, et al.
|
| J Clin Invest 67 : 1441-1450. 1981
|