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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
INS
gene.
Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T. Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42.
PubMed citation
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.
PubMed citation
Entrez
Gene
Liu M, Haataja L, Wright J, Wickramasinghe NP, Hua QX, Phillips NF, Barbetti F, Weiss MA, Arvan P. Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport. PLoS One. 2010 Oct 11;5(10):e13333. doi: 10.1371/journal.pone.0013333. Erratum in: PLoS One. 2010;5(10) doi: 10.1371/annotation/6d5e12f2-defc-48b5-84f6-43253f593a2a.
PubMed citation
Liu M, Hodish I, Haataja L, Lara-Lemus R, Rajpal G, Wright J, Arvan P. Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth. Trends Endocrinol Metab. 2010 Nov;21(11):652-9. doi: 10.1016/j.tem.2010.07.001. Epub 2010 Aug 18. Review.
PubMed citation
Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11.
PubMed citation
OMIM:
INSULIN
Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2.
PubMed citation
Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4. Review.
PubMed citation
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12.
PubMed citation
Støy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep;11(3):205-15. doi: 10.1007/s11154-010-9151-3. Review. Erratum in: Rev Endocr Metab Disord. 2012 Mar;13(1):79-81.
PubMed citation
Weiss MA. Proinsulin and the genetics of diabetes mellitus. J Biol Chem. 2009 Jul 17;284(29):19159-63. doi: 10.1074/jbc.R109.009936. Epub 2009 Apr 24. Review.
PubMed citation
Reviewed: March 2013
Published: May 20, 2013
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