| 1 | HCHOLA3, PCSK9
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| Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
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| Tada H, Kawashiri MA, Yoshida T, Teramoto R, Nohara A, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K.
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| Circ J 80(2):512-8. doi: 10.1253/circj.CJ-15-0999. Epub 2015 Dec 2.
2016
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| 2 | HCHOLA3, PCSK9
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| Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
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| Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C.
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| Hum Mutat 30(4):520-9. Review.
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 | PCSK9, HCHOLA3
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| Hepatic PCSK9 expression is regulated by nutritional status via insulin and sterol regulatory element-binding protein 1c.
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| Costet P, Cariou B, Lambert G, Lalanne F, Lardeux B, Jarnoux AL, Grefhorst A, Staels B, Krempf M.
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| J Biol Chem 281(10):6211-8. Epub 2006 Jan 6. 2006
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| 5 | PCSK9, HCHOLA3
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| Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.
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| Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH.
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| Nat Genet 37(2):161-5. Epub 2005 Jan 16. Erratum in: Nat Genet. 2005 Mar;37(3):328. 2005
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| 6 | PCSK9, HCHOLA3
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| Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.
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| Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, Soutar AK.
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| Hum Mol Genet 14(9):1161-9. Epub 2005 Mar 16. 2005
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| 7 | PCSK9, HCHOLA3
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| Common inactivating mutations in PCSK9 cause low LDL cholesterol.
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| Brunham L.
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| Clin Genet 67(6):476-7. No abstract available. 2005
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| 8 | PCSK9, HCHOLA3
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| A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
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| Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM.
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| Hum Genet 114(4):349-53. Epub 2004 Jan 15. 2004
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| 9 | PCSK9, HCHOLA3
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| Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
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| Leren T.
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| Clin Genet 65(5):419-422. 2004
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| 10 | HCHOLA3, PCSK9
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| Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
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| Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C.
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| Nat Genet 34(2):154-6. 2003
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| 11 | HCHOLA3, PCSK9
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| The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.
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| Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Jasmin SB, Stifani S, Basak A, Prat A, Chretien M.
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| Proc Natl Acad Sci U S A 100(3):928-33. Epub 2003 Jan 27. 2003
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| 12 | HCHOLA3
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| A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
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| Varret M, et al.
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| Am J Hum Genet 64(5):1378-87. 1999
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