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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. 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: rubio cabezas o. 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.
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME. Hattersley AT, et al. Among authors: rubio cabezas o. Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. doi: 10.1111/pedi.12772. Pediatr Diabetes. 2018. PMID: 30225972 No abstract available.
47 results