PubMed (cited) for id: 162150

Year	Number of Results
1991	1
1992	2
1995	3
1996	1
1997	2
2002	1
2003	2
2007	1
2008	1
2013	2
2014	1
2019	1
2024	0

1

A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.

Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R. Pépin L, et al. J Clin Endocrinol Metab. 2019 Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854. J Clin Endocrinol Metab. 2019. PMID: 30383237 Review.

2

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

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. Wilschanski M, et al. PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014. PLoS One. 2014. PMID: 25272002 Free PMC article.

3

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG. Yourshaw M, et al. J Pediatr Gastroenterol Nutr. 2013 Dec;57(6):759-67. doi: 10.1097/MPG.0b013e3182a8ae6c. J Pediatr Gastroenterol Nutr. 2013. PMID: 24280991 Free PMC article.

4

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

Martín MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydoğan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S. Martín MG, et al. Gastroenterology. 2013 Jul;145(1):138-148. doi: 10.1053/j.gastro.2013.03.048. Epub 2013 Apr 2. Gastroenterology. 2013. PMID: 23562752 Free PMC article.

5

Common nonsynonymous variants in PCSK1 confer risk of obesity.

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. Benzinou M, et al. Nat Genet. 2008 Aug;40(8):943-5. doi: 10.1038/ng.177. Epub 2008 Jul 6. Nat Genet. 2008. PMID: 18604207

6

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW. Farooqi IS, et al. J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. doi: 10.1210/jc.2007-0687. Epub 2007 Jun 26. J Clin Endocrinol Metab. 2007. PMID: 17595246

7

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S. Jackson RS, et al. J Clin Invest. 2003 Nov;112(10):1550-60. doi: 10.1172/JCI18784. J Clin Invest. 2003. PMID: 14617756 Free PMC article.

8

Mutational analysis of predicted interactions between the catalytic and P domains of prohormone convertase 3 (PC3/PC1).

Ueda K, Lipkind GM, Zhou A, Zhu X, Kuznetsov A, Philipson L, Gardner P, Zhang C, Steiner DF. Ueda K, et al. Proc Natl Acad Sci U S A. 2003 May 13;100(10):5622-7. doi: 10.1073/pnas.0631617100. Epub 2003 Apr 29. Proc Natl Acad Sci U S A. 2003. PMID: 12721373 Free PMC article.

9

Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects.

Zhu X, Zhou A, Dey A, Norrbom C, Carroll R, Zhang C, Laurent V, Lindberg I, Ugleholdt R, Holst JJ, Steiner DF. Zhu X, et al. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10293-8. doi: 10.1073/pnas.162352599. Epub 2002 Jul 26. Proc Natl Acad Sci U S A. 2002. PMID: 12145326 Free PMC article.

10

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S. Jackson RS, et al. Nat Genet. 1997 Jul;16(3):303-6. doi: 10.1038/ng0797-303. Nat Genet. 1997. PMID: 9207799

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