| 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, 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | ADRA2A, ADRB1, AGTR1, CAFG, CD36, CETP, CSF1, CSF2, CYP11B2, ECE1, EDN1, EDNRA, EDNRB, EGR1, F2R, FGA, FGB, FHBL1, HGF, ICAM1, IGF1, IL1A, IL6, LPA, MGP, MSR1, MTTP, NOS2, NOS3, PDGFA, PDGFRA, SELP, TGFB1, TNF, VCAM1, VDR
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| Sequence diversity in 36 candidate genes for cardiovascular disorders.
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| Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L.
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| Am J Hum Genet 65(1):183-91. 1999
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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | 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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| 27 | 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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| 28 | 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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| 29 | 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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| 30 | 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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| 31 | 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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| 32 | FHBL1
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| Styl polymorphism in an enhancer region of the second intron of the apolipoprotein B gene in hyper- and hypocholesterolemic subjects.
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| Rosby O, et al.
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| Clin Genet 42 : 217-223. 1992
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| 33 | 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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| 34 | 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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| 35 | 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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| 36 | 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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| 37 | 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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| 38 | 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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| 39 | 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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| 40 | 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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| 41 | 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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| 42 | 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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| 43 | 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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| 44 | 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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| 45 | 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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| 46 | 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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| 47 | 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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| 48 | 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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| 49 | 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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| 50 | 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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| 51 | 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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| 52 | 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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| 53 | 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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| 54 | 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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| 55 | FHBL1, APOB
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| Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.
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| Collins DR, et al.
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| Nucleic Acids Res 16 : 8361-8375. 1988
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| 56 | 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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| 57 | FHBL1, APOB
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| Association between epitopes detected by monoclonal antibody BIP-45 and the XbaI polymorphism of apolipoprotein B.
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| Dunning AM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 609. 1987
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| 58 | 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.
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| Antonarakis SE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 571. 1987
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| 59 | FHBL1, APOB
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| The human ApoB-100 gene : ApoB-100 is encoded by a single copy gene in the human genome.
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| Higuchi K, et al.
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| Biochem Biophys Res Commun 144 : 1332-1339. 1987
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| 60 | FHBL1, ACP1, APOB
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| Close linkage between APOB and ACP1 excluded.
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| Berg K.
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| (HGM9) Cytogenet Cell Genet 46 : 580. 1987
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| 61 | 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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| 62 | 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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| 63 | 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.
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| Barni N, et al.
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| Hum Genet 73 : 313-319. 1986
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| 64 | FHBL1, APOB
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| Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: Assignment of the Ag locus.
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| Berg K, et al.
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| Proc Natl Acad Sci U S A 83 : 7367-7370. 1986
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| 65 | 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.
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| Huang LS, et al.
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| Proc Natl Acad Sci U S A 83 : 644-648. 1986
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| 66 | 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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| 67 | FHBL1, APOB
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| RFLPs for the human apolipoprotein B gene : HincII and PvuII.
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| Darnfors C, et al.
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| Nucleic Acids Res 14 : 7135. 1986
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| 68 | FHBL1, APOB
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| Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.
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| Deeb SS, et al.
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| Proc Natl Acad Sci U S A 83 : 419-422. 1986
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| 69 | FHBL1
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| Human apolipoprotein B : structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.
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| Knott TJ, et al.
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| Science 230 : 37-43. 1985
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| 70 | FHBL1, APOB
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| Two DNA polymorphisms of the human apolipoprotein B gene - a usefulmarker for chromosome 2.
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| Talmud PJ, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 759. 1985
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| 71 | FHBL1, APOB
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| Human apolipoprotein B-100 : cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.
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| Law SW, et al.
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| Proc Natl Acad Sci U S A 82 : 8340-8344. 1985
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| 72 | FHBL1
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| Human ApoB-100 gene resides in the p23->pter region of chromosome 2.
|
| Law SW, et al.
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| Biochem Biophys Res Commun 131 : 1003-1012. 1985
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| 73 | FHBL1, APOB
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| Normotriglyceridemic abetalipoproteinemia in infancy : an isolated apolipoprotein B-100 deficiency.
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| Takashima Y, et al.
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| Pediatrics 75 : 541-546. 1985
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| 74 | 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
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| 75 | FHBL1, APOB
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| Intestinal steatosis despite B-48 synthesis in a child lacking the B-100 apolipoprotein.
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| Hyams J, et al.
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| Clin Res 32 : 399A. 1984
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| 76 | FHBL1, APOB
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| Normotriglyceridemic abetalipoproteinemia : absence of the B-100 apolipoprotein.
|
| Malloy MJ, et al.
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| J Clin Invest 67 : 1441-1450. 1981
|