PubMed (cited) for id: 600955

Year	Number of Results
1995	2
1997	1
2003	1
2007	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

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

6

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.

7

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

8

Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity.

Naggert JK, Fricker LD, Varlamov O, Nishina PM, Rouille Y, Steiner DF, Carroll RJ, Paigen BJ, Leiter EH. Naggert JK, et al. Nat Genet. 1995 Jun;10(2):135-42. doi: 10.1038/ng0695-135. Nat Genet. 1995. PMID: 7663508

9

Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function.

O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C. O'Rahilly S, et al. N Engl J Med. 1995 Nov 23;333(21):1386-90. doi: 10.1056/NEJM199511233332104. N Engl J Med. 1995. PMID: 7477119 Free article. No abstract available.

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