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

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About: Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Mutations in the insulin gene can therefore result in neonatal diabetes by two contrasting pathogenic mechanisms. Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Mutations in the insulin gene can therefore result in neonatal diabetes by two contrasting pathogenic mechanisms. (en)
Title	Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis (en)
skos:prefLabel	Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis (en)
skos:notation	RIV/00064203:_____/10:6057!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Šumník, Zdeněk Koloušková, Stanislava
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	284180
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6057
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	gene regulation; genetic testing; gene expression regulation; RNA instability; promoter regions; pancreatic beta-cell; activating mutations; promoter activity; transcription factor; mutant mice; mellitus; region; translation; expression; childhood (en)
http://linked.open.../riv/klicoveSlovo	mellitus expression region mutant mice childhood gene regulation translation RNA instability activating mutations gene expression regulation pancreatic beta-cell promoter activity promoter regions transcription factor genetic testing
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D11D3A8318D8]
http://linked.open...i/riv/nazevZdroje	Proceedings of the National Academy of Sciences of the United States of America
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	38 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	107
http://linked.open...iv/tvurceVysledku	Koloušková, Stanislava Šumník, Zdeněk Ferrer, J. Hattersley, AT Edghill, EL Akerman, I. Alshaikh, A. Bundak, R. Castano, C. Castano, L. Deeb, A. Deiss, D. Ellard, S. Fernandez, JM Fernandez-Rebollo, E. Flanagan, SE Garin, I. Godbole, K. Harries, LW Hussain, K. Johnstone, K. Klupa, T. Locke, JM Maestro, M. A. Martinez, R. Mohsin, F. Morgan, N. O\\\'Connell, M. Patch, A. M. Perlman, K. Raile, K. Rial, JM Rica, I. Rubio-Cabezas, O. Ugarte, E. Vasanthi, T. de Nanclares, G. del Castillo, G.
http://linked.open...ain/vavai/riv/wos	000274599500072
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0027-8424
number of pages	6 (xsd:int)

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