Citations for
1APOB, LDLR, PCSK9, PNPLA5
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project.
Am J Hum Genet 94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010. 2014
2APOB, DERL1, FAF2
Derlin-1 and UBXD8 are engaged in dislocation and degradation of lipidated ApoB-100 at lipid droplets.
Suzuki M, Otsuka T, Ohsaki Y, Cheng J, Taniguchi T, Hashimoto H, Taniguchi H, Fujimoto T.
Mol Biol Cell 23(5):800-10. doi: 10.1091/mbc.E11-11-0950. Epub 2012 Jan 11. 2012
3APOB, FHBL1
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
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.
J Biol Chem 285(9):6453-64. Epub 2009 Dec 23.PMID: 20032471 2010
4APOB
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.
Srivastava N, Cefalu AB, Noto D, Schonfeld G, Averna M, Srivastava RA.
Biochem Biophys Res Commun 398(4):665-70. Epub 2010 Jul 6. 2010
5APOB, FHBL1
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
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.
Mol Genet Metab 96(2):66-72. Epub 2008 Dec 11. 2009
6APOB
Apolipoprotein B epitopes are present in nuclear preparations of human and mouse cells.
Døssing K, Zaina S.
Int J Mol Med 24(1):29-33.PMID: 19513531 2009
7APOB
Fasting and postprandial apolipoprotein B-48 levels in healthy, obese, and hyperlipidemic subjects.
Otokozawa S, Ai M, Diffenderfer MR, Asztalos BF, Tanaka A, Lamon-Fava S, Schaefer EJ.
Metabolism 58(11):1536-42. Epub 2009 Jul 9.PMID: 19592048 2009
8ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
Rahalkar AR, Hegele RA.
Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
9APOB, FHBL1
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.
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.
J Biol Chem 282(33):24270-83. Epub 2007 Jun 22. 2007
10APOA1, APOA2, APOB, APOC1, APOC2, APOC3, APOE, CLU
Apolipoprotein localization in isolated drusen and retinal apolipoprotein gene expression.
Li CM, Clark ME, Chimento MF, Curcio CA.
Invest Ophthalmol Vis Sci 47(7):3119-28. 2006
11CHAC, MCLDP, XK, FHBL1,FHBL2,ABL, APOB
Neuroacanthocytosis.
Danek A, Walker RH.
Curr Opin Neurol 18(4):386-92. Review. 2005
12APOB, FHBL1
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z.
J Biol Chem 278(15):13442-52. Epub 2003 Jan 27. 2003
13FHBL1, APOB
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.
Hum Mutat 20(2):110-6. 2002
14APOB, FHBL1
Identification of the proteoglycan binding site in apolipoprotein B48.
Flood C, Gustafsson M, Richardson PE, Harvey SC, Segrest JP, Boren J.
J Biol Chem 277(35):32228-33. Epub 2002 Jun 17. 2002
15FDB, APOB, FHBL1
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
Boren J, Ekstrom U, Agren B, Nilsson-Ehle P, Innerarity TL.
J Biol Chem 276(12):9214-8. Epub 2000 Dec 13. 2001
16FHBL1, APOB
Genetic heterogeneity in familial hypobetalipoproteinemia : linkage and non-linkage to the ApoB gene in Caucasian families.
Pulai JI, et al.
Am J Med Genet 76 : 79-86. 1998
17FHBL1, APOB
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.
Tybjaerg-Hansen A, et al.
N Engl J Med 338 : 1577-1584. 1998
18FHBL1, APOB
Donor splice mutation (665 + 1 G-T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
Pulai JI, et al.
Am J Med Genet 80 : 218-220. 1998
19FHBL1, APOB
Association of the insertion/deletion gene polymorphism of the apolipoprotein B signal peptide with myocardial infarction.
Gardemann A, et al.
Atherosclerosis 141 : 167-175. 1998
20FDB, APOB, FHBL1
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.
Boren J, Lee I, Zhu W, Arnold K, Taylor S, Innerarity TL.
J Clin Invest 101(5):1084-93. 1998
21FHBL1, APOB
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
Rabes JP, Varret M, Saint-Jore B, Erlich D, Jondeau G, Krempf M, Giraudet P, Junien C, Boileau C.
Hum Mutat 10(2):160-3. 1997
22FHBL1, APOB
Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene : new definition of the alleles and evolutionary implications.
Buresi C, et al.
Hum Mol Genet 5 : 61-68. 1996
23FHBL1, APOB
Identification and molecular analysis of two ApoB gene mutations causinglow plasma cholesterol levels.
Welty FK, Ordovas J, Schaefer EJ, Wilson PW, Young SG.
Circulation 92 : 2036-2040. 1995
24FHBL1, APOB
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
Pullinger CR, et al.
J Clin Invest 95 : 1225-1234. 1995
25FHBL1, APOB
Nucleotide sequence analysis of the apolipoprotein B 3' VNTR.
Ellsworth DL, et al.
Hum Mol Genet 4 : 937-944. 1995
26FHBL1, APOB
Position-independent transgene expression mediated by boundary elements from the apolipoprotein B chromatin domain.
Kalos M, Fournier RE.
Mol Cell Biol 15(1):198-207 1995
27FHBL1, APOB
Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
Young SG, et al.
Hum Mol Genet 3 : 741-744. 1994
28FHBL1, APOB
Genetic exclusion of APO-B gene in recessive abetalipoproteinemia.
Pessah M, et al.
Biochem Biophys Res Commun 190 : 97-103. 1993
29FHBL1, APOB
Variant mapping of the Apo(B) AT rich minisatellite. Dependence on nucleotide sequence of the copy number variations. Instability of the non-canonical alleles.
Desmarais E, et al.
Nucleic Acids Res 21 : 2179-2184. 1993
30FHBL1, APOB
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, et al.
J Lipid Res 34 : 501-507. 1993
31FHBL1, APOB
Apolipoprotein B-32 : a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range.
McCormick SPA, et al.
Biochim Biophys Acta 1138 : 290-296. 1992
32FHBL1, APOB
Length and sequence variation in the apolipoprotein B intron 20 Alu repeat.
Shriver MD, et al.
Genomics 14 : 449-454. 1992
33FHBL1, APOB
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.
Schuster H, et al.
Analytical Biochem 204 : 22-25. 1992
34FHBL1, APOB
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Linton MF, et al.
Proc Natl Acad Sci U S A 89 : 11431-11435. 1992
35FHBL1, APOB
Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.
Coresh J, et al.
Am J Hum Genet 50 : 1038-1045. 1992
36FHBL1, APOB
Screening for the apolipoprotein B-100 arginine3500--glutamine mutation in patients with type III hyperlipoproteinemia.
Feussner G, et al.
Clin Genet 42 : 302-305. 1992
37FHBL1, APOB
DNA polymorphisms of the apolipoprotein B gene in Chinese coronary artery disease patients.
Saha N, et al.
Clin Genet 42 : 164-170. 1992
38FHBL1, APOB
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.
Talmud PJ, et al.
Clin Genet 42 : 62-70. 1992
39FHBL1, APOB
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
Welty FK, et al.
J Clin Invest 87 : 1748-1754. 1991
40FHBL1, APOB
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.
Hardman DA, et al.
J Clin Invest 88 : 1722-1729. 1991
41FHBL1, APOB
Analysis of two different tandem repetitive elements within the human apolipoprotein B gene.
Ludwig EH, et al.
J Lipid Res 32 : 374-379. 1991
42FHBL1, APOB
Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31).
Young SG, et al.
J Clin Invest 85 : 933-942. 1990
43FHBL1, APOB
An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene.
Visvikis S, et al.
Hum Genet 84 : 373-375. 1990
44FHBL1, APOB
Detection by denaturing gradient gel electrophoresis of a new polymorphism in the apolipoprotein B gene.
Navajas M, et al.
Hum Genet 86 : 91-93. 1990
45FHBL1, APOB
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.
Huang LS, et al.
Am J Hum Genet 46 : 1141-1148. 1990
46FHBL1, APOB
Sequence polymorphism in the human apoB gene at position 8344.
Huang LS, et al.
Nucleic Acids Res 18 : 5922. 1990
47FHBL1, APOB
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.
Ludwig EH, et al.
Am J Hum Genet 47 : 712-720. 1990
48FHBL1, APOB
A unique length polymorphism in the signal peptide region of the apolipoprotein B gene in Mexican-Americans.
Boerwinkle E, et al.
Nucleic Acids Res 18 : 7193. 1990
49FHBL1, APOB
Tetranucleotide repeat polymorphism in the apolipoprotein B gene.
Zuliani G, et al.
Nucleic Acids Res 18 : 4299. 1990
50FHBL1, APOB
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ.
Proc Natl Acad Sci U S A 86 : 587-591. 1989
51FHBL1, APOB
An MspI RFLP in the APOB promoter.
Jones T, Rajput-Williams J, Knott TJ, Scott J.
Nucleic Acids Res 17(1):472. 1989
52FHBL1, APOB
Candidate gene approach to type IIa hypercholesterolaemia.
Benlian P, et al.
Lancet I : 1201-1202. 1989
53FHBL1, APOB
High-resolution analysis of a hypervariable region in the human apolipoprotein B gene.
Ludwig EH, et al.
Am J Hum Genet 45 : 458-464. 1989
54FHBL1, APOB
Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).
Young SG, et al.
N Engl J Med 320 : 1604-1610. 1989
55FHBL1, APOB
Homozygous hypobetalipoproteinemia : transcriptional regulation and 5'-flanking sequence analysis in an apolipoprotein B deficiency state.
Ross RS, et al.
Biochim Biophys Acta 1004 : 29-35. 1989
56FHBL1, APOB
Homozygous hypobetalipoproteinemia with spared chylomicron formation.
Harano Y, et al.
Metabolism 38 : 1-7. 1989
57FHBL1, APOB
Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction : application to the apolipoprotein B 3' hypervariable region.
Boerwinkle E, et al.
Proc Natl Acad Sci U S A 86 : 212-216. 1989
58FHBL1, APOB
Two new ApoB gene polymorphisms: Rs1 and Rs2.
Genest JJ, et al.
Nucleic Acids Res 16 : 8746. 1988
59FHBL1, APOB
Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.
Collins DR, et al.
Nucleic Acids Res 16 : 8361-8375. 1988
60FHBL1, APOB
Relationships between DNA and protein polymorphisms of apolipoprotein B.
Dunning AM, et al.
Hum Genet 78 : 325-329. 1988
61APOB
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.
Proc Natl Acad Sci U S A 85(6):1772-6.PMID: 2450346 1988
62FHBL1, APOB
Association between epitopes detected by monoclonal antibody BIP-45 and the XbaI polymorphism of apolipoprotein B.
Dunning AM, et al.
(HGM9) Cytogenet Cell Genet 46 : 609. 1987
63FHBL1, HDLA@, APOB
DNA polymorphism haplotype analysis of the human apolipoprotein B gene and the apolipoprotein A1-C3-A4 gene cluster.
Antonarakis SE, et al.
(HGM9) Cytogenet Cell Genet 46 : 571. 1987
64FHBL1, APOB
The human ApoB-100 gene : ApoB-100 is encoded by a single copy gene in the human genome.
Higuchi K, et al.
Biochem Biophys Res Commun 144 : 1332-1339. 1987
65FHBL1, ACP1, APOB
Close linkage between APOB and ACP1 excluded.
Berg K.
(HGM9) Cytogenet Cell Genet 46 : 580. 1987
66FDB, APOB, FHBL1
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM.
Proc Natl Acad Sci U S A 84(19):6919-23. 1987
67FHBL1, APOB
PvuII RFLP in the 5' of the human apolipoprotein B gene.
Frossard PM, et al.
Nucleic Acids Res 14 : 4373. 1986
68FHBL1, APOB
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.
Hum Genet 73 : 313-319. 1986
69FHBL1, APOB
Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: Assignment of the Ag locus.
Berg K, et al.
Proc Natl Acad Sci U S A 83 : 7367-7370. 1986
70FHBL1, APOB
Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.
Huang LS, et al.
Proc Natl Acad Sci U S A 83 : 644-648. 1986
71FHBL1, APOB
Human apolipoprotein B : chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.
Mehrabian M, et al.
Somat Cell Mol Genet 12 : 245-254. 1986
72FHBL1, APOB
RFLPs for the human apolipoprotein B gene : HincII and PvuII.
Darnfors C, et al.
Nucleic Acids Res 14 : 7135. 1986
73FHBL1, APOB
Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.
Deeb SS, et al.
Proc Natl Acad Sci U S A 83 : 419-422. 1986
74FHBL1, APOB
Two DNA polymorphisms of the human apolipoprotein B gene - a usefulmarker for chromosome 2.
Talmud PJ, et al.
(HGM8) Cytogenet Cell Genet 40 : 759. 1985
75FHBL1, APOB
Human apolipoprotein B-100 : cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.
Law SW, et al.
Proc Natl Acad Sci U S A 82 : 8340-8344. 1985
76FHBL1, APOB
Normotriglyceridemic abetalipoproteinemia in infancy : an isolated apolipoprotein B-100 deficiency.
Takashima Y, et al.
Pediatrics 75 : 541-546. 1985
77FHBL1, APOB
The human apolipoprotein B-100 gene : A highly polymorphic gene that maps to the short arm of chromosome 2.
Chan L, et al.
Biochem Biophys Res Commun 133 : 248-255. 1985
78FHBL1, APOB
Intestinal steatosis despite B-48 synthesis in a child lacking the B-100 apolipoprotein.
Hyams J, et al.
Clin Res 32 : 399A. 1984
79FHBL1, APOB
Normotriglyceridemic abetalipoproteinemia : absence of the B-100 apolipoprotein.
Malloy MJ, et al.
J Clin Invest 67 : 1441-1450. 1981