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Items: 1 to 20 of 49

1.

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

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.

BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42.

2.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

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.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28.

3.

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY, Ye H, Steiner DF, Bell GI.

Biochem Biophys Res Commun. 2010 Jan 15;391(3):1449-54. doi: 10.1016/j.bbrc.2009.12.090. Epub 2009 Dec 23.

4.

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

Meur G, Simon A, Harun N, Virally M, Dechaume A, Bonnefond A, Fetita S, Tarasov AI, Guillausseau PJ, Boesgaard TW, Pedersen O, Hansen T, Polak M, Gautier JF, Froguel P, Rutter GA, Vaxillaire M.

Diabetes. 2010 Mar;59(3):653-61. doi: 10.2337/db09-1091. Epub 2009 Dec 10.

5.

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.

Rajan S, Eames SC, Park SY, Labno C, Bell GI, Prince VE, Philipson LH.

Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E403-10. doi: 10.1152/ajpendo.00592.2009. Epub 2009 Dec 1.

6.

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT.

Diabet Med. 2009 Oct;26(10):1070-4. doi: 10.1111/j.1464-5491.2009.02812.x.

PMID:
19900242
7.

Misfolded proinsulin affects bystander proinsulin in neonatal diabetes.

Hodish I, Liu M, Rajpal G, Larkin D, Holz RW, Adams A, Liu L, Arvan P.

J Biol Chem. 2010 Jan 1;285(1):685-94. doi: 10.1074/jbc.M109.038042. Epub 2009 Oct 30.

8.

A brief perspective on insulin production.

Steiner DF, Park SY, Støy J, Philipson LH, Bell GI.

Diabetes Obes Metab. 2009 Nov;11 Suppl 4:189-96. doi: 10.1111/j.1463-1326.2009.01106.x.

PMID:
19817801
9.

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.

JOP. 2008 Nov 3;9(6):715-8.

10.

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes.

McCarthy MI, Hattersley AT.

Diabetes. 2008 Nov;57(11):2889-98. doi: 10.2337/db08-0343. No abstract available.

11.

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.

Bonfanti R, Colombo C, Nocerino V, Massa O, Lampasona V, Iafusco D, Viscardi M, Chiumello G, Meschi F, Barbetti F.

Diabetes Care. 2009 Jan;32(1):123-5. doi: 10.2337/dc08-0783. Epub 2008 Oct 7.

12.

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

Hum Mutat. 2009 Feb;30(2):170-80. doi: 10.1002/humu.20838. Review.

PMID:
18767144
13.

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP).

J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777.

14.

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

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.

Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11.

15.

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.

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.

Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2.

16.

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.

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.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.

17.

Insulin gene mutations as a cause of permanent neonatal diabetes.

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.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12.

18.

Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice.

Herbach N, Rathkolb B, Kemter E, Pichl L, Klaften M, de Angelis MH, Halban PA, Wolf E, Aigner B, Wanke R.

Diabetes. 2007 May;56(5):1268-76. Epub 2007 Feb 15.

19.

Probe-independent and direct quantification of insulin mRNA and growth hormone mRNA in enriched cell preparations.

Van Lommel L, Janssens K, Quintens R, Tsukamoto K, Vander Mierde D, Lemaire K, Denef C, Jonas JC, Martens G, Pipeleers D, Schuit FC.

Diabetes. 2006 Dec;55(12):3214-20.

20.

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.

N Engl J Med. 2006 Aug 3;355(5):456-66.

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