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141 results

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Page 1
Novel GLIS3 mutations demonstrate an extended multisystem phenotype.
Dimitri P, Warner JT, Minton JA, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW. Dimitri P, et al. Among authors: patch am. Eur J Endocrinol. 2011 Mar;164(3):437-43. doi: 10.1530/EJE-10-0893. Epub 2010 Dec 7. Eur J Endocrinol. 2011. PMID: 21139041
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S. Flanagan SE, et al. Among authors: patch am. J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20. J Clin Endocrinol Metab. 2011. PMID: 21252247 Free PMC article.
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT. Klupa T, et al. Among authors: patch am. Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. doi: 10.1111/j.1365-2265.2008.03478.x. Epub 2008 Nov 18. Clin Endocrinol (Oxf). 2009. PMID: 19021632
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM. de Wet H, et al. Among authors: patch am. Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. doi: 10.1073/pnas.0707428104. Epub 2007 Nov 19. Proc Natl Acad Sci U S A. 2007. PMID: 18025464 Free PMC article.
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. Garin I, et al. Among authors: patch am. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: patch am. Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021. Cell Metab. 2014. PMID: 24411943 Free PMC article.
141 results