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2008 | 1 |
2010 | 2 |
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The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Diabetes. 2008 Jun;57(6):1745-52. doi: 10.2337/db07-1742. Epub 2008 Mar 20.
Diabetes. 2008.
PMID: 18356407
Free 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.
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.
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Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.
Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R.
Wirsing A, et al.
Diabet Med. 2010 Jun;27(6):631-5. doi: 10.1111/j.1464-5491.2010.03003.x.
Diabet Med. 2010.
PMID: 20546279
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