| 1 | INS, PNDM4
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| Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
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| Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT.
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| Proc Natl Acad Sci U S A 107(7):3105-10. Epub 2010 Jan 28.PMID: 20133622 2010
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| 2 | INS, PNDM4
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| Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
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| Park SY, Ye H, Steiner DF, Bell GI.
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| Biochem Biophys Res Commun 391(3):1449-54. Epub 2009 Dec 23.PMID: 20034470 2010
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| 3 | INS, PNDM4
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| Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.
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| Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.
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| JOP 9(6):715-8.PMID: 18981553 2008
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| 4 | INS, PNDM4
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| 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.
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| 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.
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| Diabetes 57(4):1034-42. Epub 2007 Dec 27.PMID: 18162506 2008
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| 5 | INS, MODY10, PNDM4
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| Insulin gene mutations as a cause of permanent neonatal diabetes.
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| Stoy 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.
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| Proc Natl Acad Sci U S A 104(38):15040-4. Epub 2007 Sep 12. 2007
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