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10.1136/jmedgenet-2015-103220 http://scihub22266oqcxt.onion/10.1136/jmedgenet-2015-103220 C4744477!4744477!26101329     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26101329&cmd=llinks): Failed to open stream: HTTP request failed! 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Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism |pdf=|usr=}}{{26101329}} gab.com Text Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism JO: J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=26101329 #FOAvip Background: Diabetes in neonates usually has a monogenic etiology; however, the cause remains unknown in 20?30%. Heterozygous INS mutations represent one of the most common gene causes of neonatal diabetes mellitus. Methods: Clinical and functional characterization of a novel homozygous intronic mutation (c.187+241G>A) in the insulin gene in a child identified through the Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu). Results: The proband had insulin-requiring diabetes from birth. Ultrasonography revealed a structurally normal pancreas and C-peptide was undetectable despite readily detectable amylin, suggesting the presence of dysfunctional beta cells. Whole exome sequencing revealed the novel mutation. In silico analysis predicted a mutant mRNA product resulting from preferential recognition of a newly created splice site.Wild-type and mutant human insulin gene constructs were derived and transiently expressed in INS-1 cells. We confirmed the predicted transcript and found an additional transcript created via an ectopic splice acceptor site. Conclusion: Dominant INS mutations cause diabetes via a mutated translational product causing ER stress. We describe a novel mechanism of diabetes, without beta cell death, due to creation of two unstable mutant transcripts predicted to undergo nonsense and non-stop mediated decay respectively. Our discovery may have broader implications for those with insulin deficiency later in life. Twit Text FOAVip Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism ????J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=26101329 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26101329 #FOAvip English Wikipedia <ref>{{Cite pmid|26101329}}</ref> Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism #MMPMID26101329 Carmody D; Park SY; Ye H; Perrone ME; Alkorta-Aranburu G; Highland HM; Hanis CL; Philipson LH; Bell GI; Greeley SAW J Med Genet 2015[Sep]; 52 (9): 612-6 PMID26101329show ga Background: Diabetes in neonates usually has a monogenic etiology; however, the cause remains unknown in 20?30%. Heterozygous INS mutations represent one of the most common gene causes of neonatal diabetes mellitus. Methods: Clinical and functional characterization of a novel homozygous intronic mutation (c.187+241G>A) in the insulin gene in a child identified through the Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu). Results: The proband had insulin-requiring diabetes from birth. Ultrasonography revealed a structurally normal pancreas and C-peptide was undetectable despite readily detectable amylin, suggesting the presence of dysfunctional beta cells. Whole exome sequencing revealed the novel mutation. In silico analysis predicted a mutant mRNA product resulting from preferential recognition of a newly created splice site.Wild-type and mutant human insulin gene constructs were derived and transiently expressed in INS-1 cells. We confirmed the predicted transcript and found an additional transcript created via an ectopic splice acceptor site. Conclusion: Dominant INS mutations cause diabetes via a mutated translational product causing ER stress. We describe a novel mechanism of diabetes, without beta cell death, due to creation of two unstable mutant transcripts predicted to undergo nonsense and non-stop mediated decay respectively. Our discovery may have broader implications for those with insulin deficiency later in life. äContinued Lessons from the INS Gene: An Intronic Mutation Causing Diab(epmc).pdf DeepDyve Pubget Overpricing