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Items: 1 to 20 of 51

1.

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.

Creemers JW, Choquet H, Stijnen P, Vatin V, Pigeyre M, Beckers S, Meulemans S, Than ME, Yengo L, Tauber M, Balkau B, Elliott P, Jarvelin MR, Van Hul W, Van Gaal L, Horber F, Pattou F, Froguel P, Meyre D.

Diabetes. 2012 Feb;61(2):383-90. doi: 10.2337/db11-0305. Epub 2011 Dec 30.

2.

Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.

Mbikay M, Sirois F, Nkongolo KK, Basak A, Chrétien M.

Mol Genet Metab. 2011 Dec;104(4):682-7. doi: 10.1016/j.ymgme.2011.09.027. Epub 2011 Sep 24.

PMID:
22000902
3.

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.

Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, Nica A, Wheeler E, Chen H, Voight BF, Taneera J, Kanoni S, Peden JF, Turrini F, Gustafsson S, Zabena C, Almgren P, Barker DJ, Barnes D, Dennison EM, Eriksson JG, Eriksson P, Eury E, Folkersen L, Fox CS, Frayling TM, Goel A, Gu HF, Horikoshi M, Isomaa B, Jackson AU, Jameson KA, Kajantie E, Kerr-Conte J, Kuulasmaa T, Kuusisto J, Loos RJ, Luan J, Makrilakis K, Manning AK, Martínez-Larrad MT, Narisu N, Nastase Mannila M, Ohrvik J, Osmond C, Pascoe L, Payne F, Sayer AA, Sennblad B, Silveira A, Stancáková A, Stirrups K, Swift AJ, Syvänen AC, Tuomi T, van 't Hooft FM, Walker M, Weedon MN, Xie W, Zethelius B; DIAGRAM Consortium; GIANT Consortium; MuTHER Consortium; CARDIoGRAM Consortium; C4D Consortium, Ongen H, Mälarstig A, Hopewell JC, Saleheen D, Chambers J, Parish S, Danesh J, Kooner J, Ostenson CG, Lind L, Cooper CC, Serrano-Ríos M, Ferrannini E, Forsen TJ, Clarke R, Franzosi MG, Seedorf U, Watkins H, Froguel P, Johnson P, Deloukas P, Collins FS, Laakso M, Dermitzakis ET, Boehnke M, McCarthy MI, Wareham NJ, Groop L, Pattou F, Gloyn AL, Dedoussis GV, Lyssenko V, Meigs JB, Barroso I, Watanabe RM, Ingelsson E, Langenberg C, Hamsten A, Florez JC.

Diabetes. 2011 Oct;60(10):2624-34. doi: 10.2337/db11-0415. Epub 2011 Aug 26.

4.

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

González-Pérez A, López-Bigas N.

Am J Hum Genet. 2011 Apr 8;88(4):440-9. doi: 10.1016/j.ajhg.2011.03.004. Epub 2011 Mar 31.

5.

Ensembl 2011.

Flicek P, Amode MR, Barrell D, Beal K, Brent S, Chen Y, Clapham P, Coates G, Fairley S, Fitzgerald S, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri A, Keefe D, Keenan S, Kinsella R, Kokocinski F, Kulesha E, Larsson P, Longden I, McLaren W, Overduin B, Pritchard B, Riat HS, Rios D, Ritchie GR, Ruffier M, Schuster M, Sobral D, Spudich G, Tang YA, Trevanion S, Vandrovcova J, Vilella AJ, White S, Wilder SP, Zadissa A, Zamora J, Aken BL, Birney E, Cunningham F, Dunham I, Durbin R, Fernández-Suarez XM, Herrero J, Hubbard TJ, Parker A, Proctor G, Vogel J, Searle SM.

Nucleic Acids Res. 2011 Jan;39(Database issue):D800-6. doi: 10.1093/nar/gkq1064. Epub 2010 Nov 2.

6.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

7.

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.

8.

Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.

Heni M, Haupt A, Schäfer SA, Ketterer C, Thamer C, Machicao F, Stefan N, Staiger H, Häring HU, Fritsche A.

BMC Med Genet. 2010 Jun 9;11:86. doi: 10.1186/1471-2350-11-86.

9.

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Kumar P, Henikoff S, Ng PC.

Nat Protoc. 2009;4(7):1073-81. doi: 10.1038/nprot.2009.86. Epub 2009 Jun 25.

PMID:
19561590
10.

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.

Nat Genet. 2008 Aug;40(8):943-5. doi: 10.1038/ng.177. Epub 2008 Jul 6.

PMID:
18604207
11.

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.

J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. Epub 2007 Jun 26.

PMID:
17595246
12.

On the processing of proghrelin to ghrelin.

Zhu X, Cao Y, Voogd K, Steiner DF.

J Biol Chem. 2006 Dec 15;281(50):38867-70. Epub 2006 Oct 18. Erratum in: J Biol Chem. 2007 Jan 19;282(3):2124. Voodg, Keith [corrected to Voogd, Keith].

13.

Predicting the effects of amino acid substitutions on protein function.

Ng PC, Henikoff S.

Annu Rev Genomics Hum Genet. 2006;7:61-80. Review.

PMID:
16824020
14.

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.

Lloyd DJ, Bohan S, Gekakis N.

Hum Mol Genet. 2006 Jun 1;15(11):1884-93. Epub 2006 Apr 27. Erratum in: Hum Mol Genet. 2008 Nov 1;17(21):3435.

PMID:
16644867
15.

Single amino acid substitution in the PC1/3 propeptide can induce significant modifications of its inhibitory profile toward its cognate enzyme.

Rabah N, Gauthier D, Wilkes BC, Gauthier DJ, Lazure C.

J Biol Chem. 2006 Mar 17;281(11):7556-67. Epub 2006 Jan 11.

16.

Agouti-related protein is posttranslationally cleaved by proprotein convertase 1 to generate agouti-related protein (AGRP)83-132: interaction between AGRP83-132 and melanocortin receptors cannot be influenced by syndecan-3.

Creemers JW, Pritchard LE, Gyte A, Le Rouzic P, Meulemans S, Wardlaw SL, Zhu X, Steiner DF, Davies N, Armstrong D, Lawrence CB, Luckman SM, Schmitz CA, Davies RA, Brennand JC, White A.

Endocrinology. 2006 Apr;147(4):1621-31. Epub 2005 Dec 29.

PMID:
16384863
17.

Appetite control.

Wynne K, Stanley S, McGowan B, Bloom S.

J Endocrinol. 2005 Feb;184(2):291-318. Review.

18.

Finishing the euchromatic sequence of the human genome.

International Human Genome Sequencing Consortium.

Nature. 2004 Oct 21;431(7011):931-45.

PMID:
15496913
19.

Prohormone convertase 1 (PC1) processing and sorting: effect of PC1 propeptide and proSAAS.

Lee SN, Prodhomme E, Lindberg I.

J Endocrinol. 2004 Aug;182(2):353-64.

20.

Identification of furin pro-region determinants involved in folding and activation.

Bissonnette L, Charest G, Longpré JM, Lavigne P, Leduc R.

Biochem J. 2004 May 1;379(Pt 3):757-63.

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