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Items: 1 to 20 of 116

1.

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.

Löffler D, Behrendt S, Creemers JWM, Klammt J, Aust G, Stanik J, Kiess W, Kovacs P, Körner A.

Mol Metab. 2016 Dec 8;6(3):295-305. doi: 10.1016/j.molmet.2016.12.002. eCollection 2017 Mar.

2.

PCSK1 Variants and Human Obesity.

Ramos-Molina B, Martin MG, Lindberg I.

Prog Mol Biol Transl Sci. 2016;140:47-74. doi: 10.1016/bs.pmbts.2015.12.001. Epub 2016 Jan 29. Review.

3.

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.

Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW.

Endocr Rev. 2016 Aug;37(4):347-71. doi: 10.1210/er.2015-1117. Epub 2016 May 17. Review.

PMID:
27187081
4.

Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3.

Williamson DM, Elferich J, Shinde U.

J Biol Chem. 2015 Sep 18;290(38):23214-25. doi: 10.1074/jbc.M115.665430. Epub 2015 Jul 30.

5.

Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.

Blanco EH, Ramos-Molina B, Lindberg I.

Endocrinology. 2015 Oct;156(10):3625-37. doi: 10.1210/en.2015-1068. Epub 2015 Jul 24.

6.

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.

Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Quinteros SC, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring HU, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SF, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A; BioBank Japan, AGEN-BMI, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D.

Hum Mol Genet. 2015 Jun 15;24(12):3582-94. doi: 10.1093/hmg/ddv097. Epub 2015 Mar 17. Review.

7.

The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.

Stijnen P, Tuand K, Varga TV, Franks PW, Aertgeerts B, Creemers JW.

Am J Epidemiol. 2014 Dec 1;180(11):1051-65. doi: 10.1093/aje/kwu237. Epub 2014 Oct 29. Review.

PMID:
25355447
8.

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.

PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014.

9.

Common variants in PCSK1 influence blood pressure and body mass index.

Gu Q, Yazdanpanah M, van Hoek M, Hofman A, Gao X, de Rooij FW, Sijbrands EJ.

J Hum Hypertens. 2015 Feb;29(2):82-6. doi: 10.1038/jhh.2014.59. Epub 2014 Jul 17.

PMID:
25031086
10.

Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.

Kulanuwat S, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Tungtrongchitr R, Santiprabhob J.

Southeast Asian J Trop Med Public Health. 2014 Jan;45(1):214-25.

PMID:
24964673
11.

Biochemical and cell biological properties of the human prohormone convertase 1/3 Ser357Gly mutation: a PC1/3 hypermorph.

Blanco EH, Peinado JR, Martín MG, Lindberg I.

Endocrinology. 2014 Sep;155(9):3434-47. doi: 10.1210/en.2013-2151. Epub 2014 Jun 16.

12.

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.

Philippe J, Stijnen P, Meyre D, De Graeve F, Thuillier D, Delplanque J, Gyapay G, Sand O, Creemers JW, Froguel P, Bonnefond A.

Int J Obes (Lond). 2015 Feb;39(2):295-302. doi: 10.1038/ijo.2014.96. Epub 2014 Jun 3.

PMID:
24890885
13.

Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure.

Pyun JA, Kim S, Cha DH, Kwack K.

Menopause. 2014 Nov;21(11):1249-53. doi: 10.1097/GME.0000000000000226.

PMID:
24618767
14.

Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.

Wei X, Ma X, Lu R, Bai G, Zhang J, Deng R, Gu N, Feng N, Guo X.

PLoS One. 2014 Jan 28;9(1):e87168. doi: 10.1371/journal.pone.0087168. eCollection 2014.

15.

Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population.

Hsiao TJ, Hwang Y, Chang HM, Lin E.

Gene. 2014 Jan 1;533(1):32-7. doi: 10.1016/j.gene.2013.10.016. Epub 2013 Oct 17.

PMID:
24140494
16.

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub 2013 Apr 17.

17.

Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population.

Choquet H, Kasberger J, Hamidovic A, Jorgenson E.

PLoS One. 2013;8(2):e57857. doi: 10.1371/journal.pone.0057857. Epub 2013 Feb 25.

18.

Overexpressed proprotein convertase 1/3 induces an epithelial-mesenchymal transition in airway epithelium.

Lee SN, Lee DH, Sohn MH, Yoon JH.

Eur Respir J. 2013 Nov;42(5):1379-90. doi: 10.1183/09031936.00100412. Epub 2013 Jan 11.

19.

PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population.

Villalobos-Comparán M, Villamil-Ramírez H, Villarreal-Molina T, Larrieta-Carrasco E, León-Mimila P, Romero-Hidalgo S, Jacobo-Albavera L, Liceaga-Fuentes AE, Campos-Pérez FJ, López-Contreras BE, Tusié-Luna T, Del Río-Navarro BE, Aguilar-Salinas CA, Canizales-Quinteros S.

PLoS One. 2012;7(6):e39037. doi: 10.1371/journal.pone.0039037. Epub 2012 Jun 21.

20.

The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.

Li XM, Ling Y, Lu DR, Lu ZQ, Liu Y, Chen HY, Gao X.

Hypertens Res. 2012 Oct;35(10):994-9. doi: 10.1038/hr.2012.79. Epub 2012 May 17.

PMID:
22592666

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