| 1 | OBS10, PCSK1
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| A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
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| Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R.
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| J Clin Endocrinol Metab. Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854 2019
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| 2 | ANGPTL4, LPL, PCSK1
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| Angiopoietin-like 4 promotes the intracellular cleavage of lipoprotein lipase by PCSK3/furin in adipocytes.
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| Dijk W, Ruppert PMM, Oost LJ, Kersten S.
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| J Biol Chem. Sep 7;293(36):14134-14145. doi: 10.1074/jbc.RA118.002426. Epub 2018 Jul 18 2018
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| 3 | BDIAS, PCSK1
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| Blue Diaper Syndrome and PCSK1 Mutations
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| Distelmaier F, Herebian D, Atasever C, Beck-Woedl S, Mayatepek E, Strom TM, Haack TB.
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| Pediatrics. Apr;141(Suppl 5):S501-S505. doi: 10.1542/peds.2017-0548 2018
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| 4 | NHLH2, PCSK1
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| Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
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| Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, Dubern B, Poitou C, Clement K, Butler MG, Rosenbaum M, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL.
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| J Clin Invest. Jan 3;127(1):293-305. doi: 10.1172/JCI88648. Epub 2016 Dec 12. 2017
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| 5 | PCSK1
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| PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
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| Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW.
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| Endocr Rev. Aug;37(4):347-71. doi: 10.1210/er.2015-1117. Epub 2016 May 17 2016
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| 6 | PCSK1
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| Common variants in PCSK1 influence blood pressure and body mass index.
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| Gu Q, Yazdanpanah M, van Hoek M, Hofman A, Gao X, de Rooij FW, Sijbrands EJ.
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| J Hum Hypertens Feb;29(2):82-6. doi: 10.1038/jhh.2014.59. Epub 2014 Jul 17 2015
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| 7 | OBS10, PCSK1
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| A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
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| Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O.
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| PLoS One. Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014 2014
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| 8 | FURIN, PAX6, PCSK1, PCSK2
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| Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.
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| Chen Y, Cao W, Zhou S, Shen L, Wen J.
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| Exp Biol Med (Maywood) 238(11):1259-64. doi: 10.1177/1535370213502627. Epub 2013 Sep 18.
2013
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| 9 | FURIN, PCSK1, PCSK2
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| Decreased hypothalamic prohormone convertase expression in huntington disease patients.
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| van Wamelen DJ, Aziz NA, Zhao J, Balesar R, Unmehopa U, Roos RA, Swaab DF.
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| J Neuropathol Exp Neurol 72(12):1126-34. doi: 10.1097/NEN.0000000000000010.
2013
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| 10 | PCSK1
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| Genetic and functional characterization of PCSK1.
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| Choquet H, Stijnen P, Creemers JW.
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| Methods Mol Biol. 768:247-53. doi: 10.1007/978-1-61779-204-5_13 2011
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| 11 | FTO, GNPDA2, KCTD15, MC4R, MTCH2, NEGR1, PCSK1, SH2B1, TMEM18
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| Replication and extension of genome-wide association study results for obesity in 4,923 adults from Northern Sweden.
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| Renström F, Payne F, Nordström A, Brito EC; GIANT Consortium, Rolandsson O, Hallmans G, Barroso I, Nordström P, Franks PW.
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| Hum Mol Genet um Mol Genet. 2009 Jan 22. [Epub ahead of print]
2009
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| 12 | FTO, MCAR, OBS2, OBS3, PCSK1
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| Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
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| Meyre D, Delplanque J, Chèvre JC, Lecoeur C, Lobbens S, Gallina S, Durand E, Vatin V, Degraeve F, Proença C, Gaget S, Körner A, Kovacs P, Kiess W, Tichet J, Marre M, Hartikainen AL, Horber F, Potoczna N, Hercberg S, Levy-Marchal C, Pattou F, Heude B, Tauber M, McCarthy MI, Blakemore AI, Montpetit A, Polychronakos C, Weill J, Coin LJ, Asher J, Elliott P, Järvelin MR, Visvikis-Siest S, Balkau B, Sladek R, Balding D, Walley A, Dina C, Froguel P.
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| Nat Genet 41(2):157-9. Epub 2009 Jan 18.
2009
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| 13 | PCSK1
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| Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study.
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| Kilpeläinen TO, Bingham SA, Khaw KT, Wareham NJ, Loos RJ.
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| Hum Mol Genet 18(18):3496-501. Epub 2009 Jun 15.PMID: 19528091 2009
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| 14 | PCSK1, PCSK2, PCSK5, PCSK6
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| Subtilisin-like proprotein convertase expression, localization, and activity in the human retina and optic nerve head.
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| Fuller JA, Brun-Zinkernagel AM, Clark AF, Wordinger RJ.
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| Invest Ophthalmol Vis Sci 50(12):5759-68. Epub 2009 Apr 1. 2009
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| 15 | PCSK1, PCSK2
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| Molecular cloning, ontogeny and tissue distribution of zebrafish (Danio rerio) prohormone convertases: pcsk1 and pcsk2.
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| Morash MG, MacDonald AB, Croll RP, Anini Y.
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| Gen Comp Endocrinol 162(2):179-87. doi: 10.1016/j.ygcen.2009.03.013. Epub 2009 Mar 28.
2009
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| 16 | PCSK1
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| Common nonsynonymous variants in PCSK1 confer risk of obesity.
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| Benzinou M, Creemers JW, Choquet H, Lobbens S, Dina C, Durand E, Guerardel A, Boutin P, Jouret B, Heude B, Balkau B, Tichet J, Marre M, Potoczna N, Horber F, Le Stunff C, Czernichow S, Sandbaek A, Lauritzen T, Borch-Johnsen K, Andersen G, Kiess W, Körner A, Kovacs P, Jacobson P, Carlsson LM, Walley AJ, Jørgensen T, Hansen T, Pedersen O, Meyre D, Froguel P.
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| Nat Genet 40(8):943-5. Epub 2008 Jul 6.
2008
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| 17 | FURIN, PCSK1, PCSK2, PCSK5, PCSK6
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| PC1/3, PC2 and PC5/6A are targeted to dense core secretory granules by a common mechanism.
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| Dikeakos JD, Mercure C, Lacombe MJ, Seidah NG, Reudelhuber TL.
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| FEBS J 274(16):4094-102. Epub 2007 Jul 20.
2007
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| 18 | PCSK1
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| Proprotein convertase PC3 is not a transmembrane protein.
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| Stettler H, Suri G, Spiess M.
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| Biochemistry 44(14):5339-45.
2005
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| 19 | MODY6, NEUROD1, OBS10, PCSK1
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| Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification.
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| McCarthy MI.
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| Hum Mol Genet 13 Spec No 1:R33-41. Epub 2004 Jan 13. 2004
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| 20 | FURIN, PCSK1, PCSK2
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| Role of beta-cell prohormone convertase (PC)1/3 in processing of pro-islet amyloid polypeptide.
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| Marzban L, Trigo-Gonzalez G, Zhu X, Rhodes CJ, Halban PA, Steiner DF, Verchere CB.
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| Diabetes 53(1):141-8.
2004
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| 21 | BDNF, MBTPS1, PCSK1
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| Mammalian subtilisin/kexin isozyme SKI-1 : a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization.
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| Seidah NG, et al.
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| Proc Natl Acad Sci U S A 96 : 1321-1326. 1999
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| 22 | PCSK1
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| A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.
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| Pizzuti A, Frittitta L, Argiolas A, Baratta R, Goldfine ID, Bozzali M, Ercolino T, Scarlato G, Iacoviello L, Vigneri R, Tassi V, Trischitta V.
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| Diabetes 48(9):1881-4 1999
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| 23 | FURIN, PCSK6, PCSK1, PCSK2, PCSK4, PCSK5, PCSK7
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| A model for the structure of the P domains in the subtilisin-like prohormone convertases.
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| Lipkind GM, et al.
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| Proc Natl Acad Sci U S A 95(13):7310-5. 1998
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| 24 | AGRP, CLU, CPE, MC4R, NPY5R, NPY6R, PCSK1, POMC, DIDAN, TUB, UCP2
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| Microsatellite marker content mapping of 12 candidate genes for obesity: assembly of seven obesity screening panels for automated genotyping.
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| Winick JD, Friedman JM.
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| Genome Res 8(9):985-94. 1998
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| 25 | OBS10, PCSK1
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| Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
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| Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S.
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| Nat Genet 16(3):303-6. 1997
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| 26 | PCSK1
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| Human prohormone convertase 3 gene. Exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM.
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| Ohagi S, et al.
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| Diabetes 45 : 897-901. 1996
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| 27 | FURIN, PCSK6, PCSK1, PCSK2, PCSK4, PCSK5, PCSK7
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| The family of subtilisin/kexin like pro-protein and pro-hormone convertases: divergent or shared functions.
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| Seidah NG, et al.
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| Biochimie 76(3-4):197-209. Review. 1994
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| 28 | FURIN, PCSK6, PCSK1, PCSK2, PCSK4, PCSK5, PCSK7
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| Structure and function of eukaryotic proprotein processing enzymes of the subtilisin family of serine proteases.
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| Van de Ven WJ, et al.
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| Crit Rev Oncog 4(2):115-36. Review. 1993
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| 29 | PCSK1, PCSK2
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| Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7(D1-E2) region).
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| Seidah NG, et al.
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| Genomics 11 : 103-107. 1991
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| 30 | PCSK1, PCSK2
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| PC1 and PC2 are pro-protein convertases capable of cleaving proopiomelanocortin at distinct pairs of basic residues.
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| Benjannet S, et al.
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| Proc Natl Acad Sci U S A 88 : 3564-3568. 1991
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| 31 | PCSK1, PCSK2, FURIN, PCSK4, PCSK5, PCSK6
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| Mammalian subtilisins : the long-sought dibasic processing endoproteases.
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| Barr PJ.
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| Cell 66 : 1-3. 1991
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