| 1 | LDLR, PAQR3, PCSK9
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| PAQR3 modulates blood cholesterol level by facilitating interaction between LDLR and PCSK9.
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| Huang M, Zhao Z, Cao Q, You X, Wei S, Zhao J, Bai M, Chen Y.
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| Metabolism. May;94:88-95. doi: 10.1016/j.metabol.2019.02.005. Epub 2019 Mar 1. 2019
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| 2 | GCGR, LDLR, TMED2, YWHAB
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| The Identification of Novel Protein-Protein Interactions in Liver that Affect Glucagon Receptor Activity.
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| Han J, Zhang M, Froese S, Dai FF, Robitaille M, Bhattacharjee A, Huang X, Jia W, Angers S, Wheeler MB, Wei L.
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| PLoS One 10(6):e0129226. doi: 10.1371/journal.pone.0129226. eCollection 2015.
2015
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| 3 | HSP90B1, LDLR, PCSK9
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| GRP94 Regulates Circulating Cholesterol Levels through Blockade of PCSK9-Induced LDLR Degradation.
|
| Poirier S, Mamarbachi M, Chen WT, Lee AS, Mayer G.
|
| Cell Rep 13(10):2064-71. doi: 10.1016/j.celrep.2015.11.006. Epub 2015 Nov 25.
2015
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| 4 | APOE, LDLR, MYLIP
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| The E3 ubiquitin ligase Idol controls brain LDL receptor expression, ApoE clearance, and Aβ amyloidosis.
|
| Choi J, Gao J, Kim J, Hong C, Kim J, Tontonoz P.
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| Sci Transl Med 7(314):314ra184. doi: 10.1126/scitranslmed.aad1904.
2015
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| 5 | APOB, LDLR, PCSK9, PNPLA5
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| 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.
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| Am J Hum Genet 94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.
2014
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| 6 | LDLR, PCSK9
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| PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.
|
| Strøm TB, Tveten K, Leren TP.
|
| Biochem J 457(1):99-105. doi: 10.1042/BJ20130930.
2014
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| 7 | LDLR, MYLIP
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| Both K63 and K48 Ubiquitin Linkages Signal Lysosomal Degradation of the LDL Receptor.
|
| Zhang L, Xu M, Scotti E, Chen ZJ, Tontonoz P.
|
| J Lipid Res Lipid Res. 2013 Feb 18. [Epub ahead of print]
2013
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| 8 | LDLR, MYLIP
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| IDOL stimulates clathrin-independent endocytosis and MVB-mediated lysosomal degradation of the LDLR.
|
| Scotti E, Calamai M, Goulbourne CN, Zhang L, Hong C, Lin RR, Choi J, Pilch PF, Fong LG, Zou P, Ting AY, Pavone FS, Young SG, Tontonoz P.
|
| Mol Cell Biol ol Cell Biol. 2013 Feb 4. [Epub ahead of print]
2013
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| 9 | LDLR
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| Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
| Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
|
| Atherosclerosis therosclerosis. 2013 Jan 19. doi:pii: S0021-9150(13)00042-7. 10.1016/j.atherosclerosis.2013.01.007. [Epub ahead of print]
2013
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| 10 | LDLR, LRP1, PCSK9
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| Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).
|
| Canuel M, Sun X, Asselin MC, Paramithiotis E, Prat A, Seidah NG.
|
| PLoS One 8(5):e64145. doi: 10.1371/journal.pone.0064145. Print 2013.
2013
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| 11 | F8, LDLR
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| Mapping the binding region on the low density lipoprotein receptor for blood coagulation factor VIII.
|
| Kurasawa JH, Shestopal SA, Karnaukhova E, Struble EB, Lee TK, Sarafanov AG.
|
| J Biol Chem 288(30):22033-41. doi: 10.1074/jbc.M113.468108.
2013
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| 12 | LDLR
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| Inflammation disrupts the LDL receptor pathway and accelerates the progression of vascular calcification in ESRD patients.
|
| Liu J, Ma KL, Gao M, Wang CX, Ni J, Zhang Y, Zhang XL, Liu H, Wang YL, Liu BC.
|
| PLoS One 7(10):e47217. doi: 10.1371/journal.pone.0047217. Epub 2012 Oct 24.
2012
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| 13 | LDLR
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| Thyroid hormone receptor agonists reduce serum cholesterol independent of the LDL receptor.
|
| Lin JZ, Martagón AJ, Hsueh WA, Baxter JD, Gustafsson JÅ, Webb P, Phillips KJ.
|
| Endocrinology 153(12):6136-44. doi: 10.1210/en.2011-2081. Epub 2012 Oct 19.
2012
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| 14 | BIRC2, LDLR, PCSK9
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| c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.
|
| Xu W, Liu L, Hornby D.
|
| Molecules 17(10):12086-101. doi: 10.3390/molecules171012086.
2012
|
| 15 | LDLR
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| Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
|
| Jelassi A, Slimani A, Rabès JP, Jguirim I, Abifadel M, Boileau C, Najah M, M'rabet S, Mzid J, Slimane MN, Varret M.
|
| Clin Chim Acta 414:146-51. doi: 10.1016/j.cca.2012.08.002. Epub 2012 Aug 14.
2012
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| 16 | LDLR, PCSK9
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| Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.
|
| Wang Y, Huang Y, Hobbs HH, Cohen JC.
|
| J Lipid Res 53(9):1932-43. doi: 10.1194/jlr.M028563. Epub 2012 Jul 4.
2012
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| 17 | LDLR
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| Polymorphisms at the LDLR locus may be associated with ischemic cerebrovascular disease independent of lipid profile.
|
| Lee JD, Lee TH, Kuo YW, Huang YC, Hsu HL, Lin YH, Wu CY, Huang YC, Lee M, Hsiao KM.
|
| Curr Neurovasc Res 9(3):200-6.
2012
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| 18 | LDLR
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| Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
|
| Etxebarria A, Palacios L, Stef M, Tejedor D, Uribe KB, Oleaga A, Irigoyen L, Torres B, Ostolaza H, Martin C.
|
| Hum Mutat 33(1):232-43. doi: 10.1002/humu.21630. Epub 2011 Nov 3.
2012
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| 19 | LDLR, LRP6
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| LRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.
|
| Ye ZJ, Go GW, Singh R, Liu W, Keramati AR, Mani A.
|
| J Biol Chem 287(2):1335-44. doi: 10.1074/jbc.M111.295287. Epub 2011 Nov 28.
2012
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| 20 | CNPY2, FGF21, LDLR, MYLIP
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| Fibroblast growth factor-21 (FGF21) regulates low-density lipoprotein receptor (LDLR) levels in cells via the E3-ubiquitin ligase Mylip/Idol and the Canopy2 (Cnpy2)/Mylip-interacting saposin-like protein (Msap).
|
| Do HT, Tselykh TV, Mäkelä J, Ho TH, Olkkonen VM, Bornhauser BC, Korhonen L, Zelcer N, Lindholm D.
|
| J Biol Chem 287(16):12602-11. doi: 10.1074/jbc.M112.341248. Epub 2012 Feb 29.
2012
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| 21 | LDLR, MYLIP, UBE2D1
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| The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor.
|
| Zhang L, Fairall L, Goult BT, Calkin AC, Hong C, Millard CJ, Tontonoz P, Schwabe JW.
|
| Genes Dev 25(12):1262-74. doi: 10.1101/gad.2056211. 2011
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| 22 | LDLR, PCSK9
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| Role of ubiquitination in PCSK9-mediated low-density lipoprotein receptor degradation.
|
| Chen Y, Wang H, Yu L, Yu X, Qian YW, Cao G, Wang J.
|
| Biochem Biophys Res Commun 415(3):515-8. doi: 10.1016/j.bbrc.2011.10.110. Epub 2011 Nov 2.
2011
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| 23 | LDLR, PCSK9
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| Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.
|
| Lo Surdo P, Bottomley MJ, Calzetta A, Settembre EC, Cirillo A, Pandit S, Ni YG, Hubbard B, Sitlani A, Carfí A.
|
| EMBO Rep 12(12):1300-5. doi: 10.1038/embor.2011.205.
2011
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| 24 | LDLR
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| Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.
|
| Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP.
|
| Biochem Biophys Res Commun 415(4):642-5. doi: 10.1016/j.bbrc.2011.10.127. Epub 2011 Nov 2.
2011
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| 25 | LDLR
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| A novel putative interactor for the low density lipoprotein receptor cytoplasmic domain.
|
| Costa S, Nicosia A, Ragusa MA, Cefalù AB, Pollaccia D, Noto D, Averna M, Gianguzza F.
|
| Mol Med Rep 3(2):341-5. doi: 10.3892/mmr_00000263.
2010
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| 26 | LDLR
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| LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
|
| Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM.
|
| Eur J Hum Genet 17(1):85-90. Epub 2008 Jul 23.
2009
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| 27 | LDLR, PCSK9
|
| Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants.
|
| Bottomley MJ, Cirillo A, Orsatti L, Ruggeri L, Fisher TS, Santoro JC, Cummings RT, Cubbon RM, Lo Surdo P, Calzetta A, Noto A, Baysarowich J, Mattu M, Talamo F, De Francesco R, Sparrow CP, Sitlani A, Carfí A.
|
| J Biol Chem 284(2):1313-23. Epub 2008 Nov 10.
2009
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| 28 | ABCA1, 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
|
| 29 | LDLR
|
| A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
|
| Smith AJ, Ahmed F, Nair D, Whittall R, Wang D, Taylor A, Norbury G, Humphries SE.
|
| Eur J Hum Genet 15(11):1186-9. Epub 2007 Jul 11. 2007
|
| 30 | LDLR,NR1H3
|
| Identification of human low-density lipoprotein receptor as a novel target gene regulated by liver X receptor alpha.
|
| Ishimoto K, Tachibana K, Sumitomo M, Omote S, Hanano I, Yamasaki D, Watanabe Y, Tanaka T, Hamakubo T, Sakai J, Kodama T, Doi T.
|
| FEBS Lett 580(20):4929-33. Epub 2006 Aug 14. 2006
|
| 31 | LDLR, PCSK9
|
| Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.
|
| Maxwell KN, Fisher EA, Breslow JL.
|
| Proc Natl Acad Sci U S A 102(6):2069-74. Epub 2005 Jan 27. 2005
|
| 32 | CYP17A1, MTTP,VLDLR
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| Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men.
|
| Yamada Y, Ando F, Shimokata H.
|
| Genomics 86(1):76-85. Epub 2005 Apr 15. 2005
|
| 33 | LDLR
|
| Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura.
|
| Mochi M, Cevoli S, Cortelli P, Pierangeli G, Scapoli C, Soriani S, Montagna P.
|
| J Neurol Sci 213(1-2):7-10. 2003
|
| 34 | LDLR
|
| Identification of a novel sterol-independent regulatory element in the human low density lipoprotein receptor promoter.
|
| Liu J, Ahlborn TE, Briggs MR, Kraemer FB.
|
| J Biol Chem 275(7):5214-21. 2000
|
| 35 | LDLR
|
| Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
|
| Rodningen OK, et al.
|
| Hum Mutat 13(3):186-96. 1999
|
| 36 | LDLR
|
| The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia.
|
| Lombardi P, et al.
|
| Hum Genet 99 : 106-107. 1997
|
| 37 | LDLR
|
| Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module.
|
| Fass D, Blacklow S, Kim PS, Berger JM.
|
| Nature 388(6643):691-3. 1997
|
| 38 | LDLR
|
| Two point mutations (313 + 1G-A and 313 + 1G-T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.
|
| Jensen HK, et al.
|
| Hum Mutat 7 : 269-271. 1996
|
| 39 | LDLR
|
| An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.
|
| Jensen LG, et al.
|
| Hum Mutat 7 : 82-84. 1996
|
| 40 | LDLR
|
| A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
|
| Sundvold H, et al.
|
| Hum Mutat 7 : 70-71. 1996
|
| 41 | LDLR
|
| Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene : a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.
|
| Webb JC, et al.
|
| Hum Mol Genet 5 : 1325-1331. 1996
|
| 42 | LDLR
|
| Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.
|
| Kotze MJ, et al.
|
| Hum Genet 98 : 476-478. 1996
|
| 43 | LDLR
|
| A new Mspl PCR-RFLP in the human LDL receptor gene.
|
| Chae JJ, et al.
|
| Hum Hered 46 : 339-341. 1996
|
| 44 | LDLR
|
| Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
|
| Lombardi P, et al.
|
| Clin Genet 50 : 525-526. 1996
|
| 45 | LDLR
|
| A new restriction-site polymorphism in exon 18 of the low density lipoprotein receptor (LDLR) gene.
|
| Kass DH, et al.
|
| Hum Genet 95 : 363-364. 1995
|
| 46 | LDLR
|
| Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.
|
| Peeters AV, et al.
|
| Hum Genet 96 : 401-406. 1995
|
| 47 | LDLR
|
| Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians.
|
| Vohl MC, Couture P, Moorjani S, Torres AL, Gagne C, Despres JP, Lupien PJ, Labrie F, Simard J.
|
| Hum Mutat 6(3):243-6. 1995
|
| 48 | LDLR
|
| A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene.
|
| Peeters AV, et al.
|
| Clin Genet 47 : 101-102. 1995
|
| 49 | LDLR
|
| Screening for mutations in exon 4 of the LDL receptor gene : identification of a new deletion mutation.
|
| Theart L, et al.
|
| J Med Genet 32 : 379-382. 1995
|
| 50 | LDLR
|
| Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
|
| Tricot-Guerber F, et al.
|
| Hum Mutat 6 : 87-88. 1995
|
| 51 | LDLR
|
| An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia.
|
| Schlter G, et al.
|
| Clin Genet 45 : 84-87. 1994
|
| 52 | LDLR
|
| A new missense mutation (Cys297-Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FH Trieste).
|
| Lelli N, et al.
|
| Hum Genet 93 : 538-540. 1994
|
| 53 | LDLR
|
| A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region.
|
| Yamakawa-Kobayashi K, et al.
|
| Hum Genet 93 : 625-628. 1994
|
| 54 | LDLR
|
| Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
|
| Jensen HK, et al.
|
| Hum Mutat 4 : 102-113. 1994
|
| 55 | LDLR
|
| An alanine 29-serine variant in exon 2 of the low density lipoprotein receptor gene : no association with hypercholesterolemia.
|
| Jensen HK, et al.
|
| Clin Genet 46 : 214-215. 1994
|
| 56 | LDLR
|
| Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
|
| Simard J, et al.
|
| Hum Mol Genet 3 : 1689-1691. 1994
|
| 57 | LDLR
|
| FH-Sydney 1 and 2 : two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
|
| Cavanaugh JA, et al.
|
| Hum Mutat 4 : 276-280. 1994
|
| 58 | LDLR
|
| Mutations of the low-density-lipoprotein receptor gene and familial hypercholesterolemia.
|
| Shachter NS, et al.
|
| Trends Endocrinol Metab 5 : 245-249. 1994
|
| 59 | LDLR
|
| Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia FH-Espoo.
|
| Koivisto PVI, et al.
|
| Arterioscler Thromb 13 : 1680-1688. 1993
|
| 60 | LDLR
|
| An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
|
| Lombardi P, et al.
|
| Atherosclerosis 104 : 117-128. 1993
|
| 61 | LDLR
|
| Six DNA polymorphisms in the low density lipoprotein receptor gene : their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesteraemia.
|
| Humphries S, et al.
|
| J Med Genet 30 : 273-279. 1993
|
| 62 | LDLR
|
| Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.
|
| Saint-Jore B, et al.
|
| Hum Genet 91 : 511-512. 1993
|
| 63 | LDLR
|
| Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.
|
| Top B, et al.
|
| Hum Genet 91 : 480-484. 1993
|
| 64 | LDLR
|
| A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.
|
| Mandelshtam MJ, et al.
|
| Hum Mutat 2 : 256-260. 1993
|
| 65 | LDLR
|
| Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis.
|
| Yamakawa-Kobayashi K, et al.
|
| Hum Genet 92 : 76-78. 1993
|
| 66 | LDLR
|
| Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia.
|
| Yamakawa-Kobayashi K, et al.
|
| Hum Genet 92 : 331-335. 1993
|
| 67 | LDLR
|
| A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.
|
| Landsberger D, et al.
|
| Am J Hum Genet 50 : 427-433. 1992
|
| 68 | LDLR
|
| Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.
|
| Warnich L, et al.
|
| Hum Genet 89 : 362. 1992
|
| 69 | LDLR
|
| A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene.
|
| Cavanaugh JA, et al.
|
| Hum Hered 42 : 189-192. 1992
|
| 70 | LDLR
|
| The familial hypercholesterolemia (FH)-North Carelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
|
| Koivisto UM, et al.
|
| J Clin Invest 90 : 219-228. 1992
|
| 71 | LDLR
|
| Prenatal diagnosis of familial hypercholesteremia caused by the Lebanese mutation at the low density lipoprotein receptor locus.
|
| Reshef A, et al.
|
| Hum Genet 89 : 237-239. 1992
|
| 72 | LDLR
|
| Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis.
|
| Top B, et al.
|
| Hum Genet 89 : 561-565. 1992
|
| 73 | LDLR
|
| A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects.
|
| Leren TP, et al.
|
| Clin Genet 42 : 224-228. 1992
|
| 74 | LDLR
|
| DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia.
|
| Rdiger NS, et al.
|
| Clin Genet 39 : 451-462. 1991
|
| 75 | LDLR
|
| A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).
|
| Soutar AK.
|
| Nucleic Acids Res 19 : 4314. 1991
|
| 76 | LDLR
|
| A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
|
| Meiner V, et al.
|
| Am J Hum Genet 49 : 443-449. 1991
|
| 77 | LDLR
|
| A HaeIII polymorphism in the 3' untranslated region of the low density lipoprotein receptor (LDLR) gene.
|
| Cavanaugh JA, et al.
|
| Nucleic Acids Res 19 : 6663. 1991
|
| 78 | LDLR
|
| Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.
|
| Loux N, et al.
|
| Hum Genet 87 : 373-375. 1991
|
| 79 | LDLR
|
| Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia.
|
| Rdiger NS, et al.
|
| Eur J Biochem 198 : 107-111. 1991
|
| 80 | LDLR
|
| Screening for a prevalent LDL receptor mutation in patients with severe hypercholesteraemia.
|
| Savolainen MJ, et al.
|
| Hum Genet 87 : 125-128. 1991
|
| 81 | LDLR
|
| Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.
|
| Daga A, et al.
|
| Hum Genet 84 : 412-416. 1990
|
| 82 | LDLR
|
| Common low-density lipoprotein receptor mutations in the French Canadian population.
|
| Leitersdorf E, et al.
|
| J Clin Invest 85 : 1014-1023. 1990
|
| 83 | LDLR
|
| A LDL receptor gene homozygous mutation : PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.
|
| Benlian P, et al.
|
| Ann Genet 33 : 65-69. 1990
|
| 84 | LDLR
|
| Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion.
|
| Top B, et al.
|
| Atherosclerosis 83 : 127-136. 1990
|
| 85 | LDLR
|
| Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene.
|
| Zuliani G, et al.
|
| Nucleic Acids Res 18 : 4300. 1990
|
| 86 | LDLR
|
| A StuI RFLP upstream of the low density lipoprotein receptor (LDLR) gene.
|
| Hegele RA, et al.
|
| Nucleic Acids Res 17 : 1786. 1989
|
| 87 | LDLR
|
| Three RFLPs upstream of the low density lipoprotein receptor (LDLR) gene.
|
| Hegele RA, et al.
|
| Nucleic Acids Res 17 : 470. 1989
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| 88 | LDLR
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| Identification of a second French Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions.
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| Ma Y, et al.
|
| Clin Genet 36 : 219-228. 1989
|
| 89 | LDLR
|
| Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
|
| Aalto-Setl K, et al.
|
| J Clin Invest 84 : 499-505. 1989
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| 90 | LDLR
|
| Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
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| Leitersdorf E, et al.
|
| J Clin Invest 84 : 954-961. 1989
|
| 91 | LDLR
|
| Polymorphic DNA haplotypes at the LDL receptor locus.
|
| Leitersdorf E, et al.
|
| Am J Hum Genet 44 : 409-421. 1989
|
| 92 | LDLR
|
| Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
| Soutar AK, et al.
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| Proc Natl Acad Sci U S A 86 : 4166-4170. 1989
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| 93 | LDLR
|
| Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).
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| Langlois S, et al.
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| Am J Hum Genet 43 : 60-68. 1988
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| 94 | LDLR
|
| Deletion in the first cystein-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
|
| Leitersdorf E, et al.
|
| Proc Natl Acad Sci U S A 85 : 7912-7916. 1988
|
| 95 | LDLR, C3, APOC2, LW, BCAM , FUT2
|
| The chromosome 19 linkage group LDLR, C3, LW, APOC2, LU, SE in man.
|
| Lewis M, et al.
|
| Ann Hum Genet 52 : 137-144. 1988
|
| 96 | LDLR
|
| RFLPs upstream of the low-density lipoprotein receptor (LDLR) gene.
|
| Hegele RA, et al.
|
| Nucleic Acids Res 16 : 7214. 1988
|
| 97 | LDLR
|
| Human LDL receptor gene : HincII polymorphism detected by gene amplification.
|
| Leitersdorf E, et al.
|
| Nucleic Acids Res 16 : 7215. 1988
|
| 98 | LDLR
|
| The application of new DNA polymorphisms in the low density lipoprotein receptor (LDLR) gene for genetic studies.
|
| Taylor R, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 703. 1987
|
| 99 | LDLR
|
| Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia.
|
| Hobbs HH, et al.
|
| N Engl J Med 317 : 734-737. 1987
|
| 100 | LDLR
|
| Double MspI RFLP in the human LDL receptor gene.
|
| Geisel J, et al.
|
| Nucleic Acids Res 15 : 3943. 1987
|
| 101 | LDLR
|
| TaqI polymorphism in the human LDL receptor gene.
|
| Yamakawa K, et al.
|
| Nucleic Acids Res 15 : 7659. 1987
|
| 102 | LDLR
|
| A receptor-mediated pathway for cholesterol homeostasis.
|
| Brown MS, et al.
|
| Science 232 : 34-47. 1986
|
| 103 | APOC1, APOC2, APOE, C3, LDLR, PEPD, GPI
|
| Regional mapping of human chromosome 19 : Organisation of genes for plasma lipid transport (APOC1,-C2, and -E and LDLR) and the genes C3, PEPD, and GPI.
|
| Lusis AJ, et al.
|
| Proc Natl Acad Sci U S A 83 : 3929-3933. 1986
|
| 104 | LDLR
|
| Human LDL receptor gene : two ApaLI RFLPs.
|
| Leitersdorf E, et al.
|
| Nucleic Acids Res 15 : 2782. 1986
|
| 105 | APOC1, APOC2, APOE, ERCC1, LDLR
|
| A somatic cell hybrid panel for chromosome 19 : localization of known genes and RFLP's and orientation of the linkage group.
|
| Brook JD, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 590-591. 1985
|
| 106 | LDLR
|
| Mutation in LDL receptor : Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.
|
| Lehrman MA, et al.
|
| Science 227 : 140-146. 1985
|
| 107 | LDLR
|
| Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.
|
| Lehrman MA, et al.
|
| Cell 41 : 735-743. 1985
|
| 108 | HMGCR, LDLR
|
| Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.
|
| Lindgren V, et al.
|
| Proc Natl Acad Sci U S A 82 : 8567-8571. 1985
|
| 109 | LDLR
|
| Regional assignment of the human low density lipoprotein receptor gene(LDLR) to 19p13.
|
| Lindgren V, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 681. 1985
|
| 110 | LDLR
|
| Assignment of the human gene for the low density lipoprotein receptor to chromosome 19 : synteny of a receptor, a ligand, and a genetic disease.
|
| Francke U, et al.
|
| Proc Natl Acad Sci U S A 81 : 2826-2830. 1984
|
| 111 | C3, LDLR
|
| Probable linkage between essential familial hypercholesterolemia and third complement component (C3).
|
| Elston RC, et al.
|
| Cytogenet Cell Genet 16 : 294-297. 1976
|
| 112 | JK, LDLR
|
| Linkage studies in a large kindred with familial hypercholesterolemia.
|
| Ott J, et al.
|
| Am J Hum Genet 26 : 598-603. 1974
|