In celebration of a century with insulin – Update of insulin gene mutations in diabetes
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[1] Jie Chang,et al. MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report. , 2020, American journal of translational research.
[2] Ming Liu,et al. Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations , 2020, Molecular and Cellular Endocrinology.
[3] L. Donovan,et al. Glycemic Impact of Metformin in Diabetes Caused by Heterozygous Insulin Gene Mutation R46Q. , 2020, Canadian journal of diabetes.
[4] K. Hussain,et al. Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life , 2020, Pediatric diabetes.
[5] B. Shirah,et al. A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families , 2020, Annals of pediatric endocrinology & metabolism.
[6] L. Groop,et al. Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study , 2019, Diabetes Care.
[7] A. Hattersley,et al. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents , 2018, Pediatric diabetes.
[8] R. Kaufman,et al. Biosynthesis, structure, and folding of the insulin precursor protein , 2018, Diabetes, obesity & metabolism.
[9] G. d’Annunzio,et al. Genetic causes and treatment of neonatal diabetes and early childhood diabetes. , 2018, Best practice & research. Clinical endocrinology & metabolism.
[10] L. Philipson,et al. Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options , 2018, Current Diabetes Reports.
[11] U. Oppermann,et al. A novel INS mutation in a family with maturity‐onset diabetes of the young: Variable insulin secretion and putative mechanisms , 2018, Pediatric diabetes.
[12] S. Ellard,et al. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation , 2018, Journal of pediatric endocrinology & metabolism : JPEM.
[13] M. Lemelman,et al. Neonatal Diabetes Mellitus: An Update on Diagnosis and Management. , 2017, Clinics in perinatology.
[14] L. Philipson,et al. Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene , 2017, Journal of the Endocrine Society.
[15] Soo-young Park,et al. In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin) , 2017, Diabetologia.
[16] S. Levy,et al. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry , 2017, Diabetologia.
[17] N. Crimmins,et al. Bilateral cataracts in a 6‐yr‐old with new onset diabetes: a novel presentation of a known INS gene mutation , 2016, Pediatric diabetes.
[18] S. Giglio,et al. Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype. , 2016, European journal of medical genetics.
[19] A. Hattersley,et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study , 2015, The Lancet.
[20] C. Cortese,et al. Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment , 2015, Acta Diabetologica.
[21] Marie E. Perrone,et al. Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism , 2015, Journal of Medical Genetics.
[22] T. Tankova,et al. A family with permanent neonatal diabetes due to a novel mutation in INS gene. , 2015, Diabetes research and clinical practice.
[23] O. Cinek,et al. Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young. , 2015, European journal of medical genetics.
[24] A. Hattersley,et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations , 2015, European journal of endocrinology.
[25] A. Brzozowski,et al. Structural and Functional Study of the GlnB22-Insulin Mutant Responsible for Maturity-Onset Diabetes of the Young , 2014, PloS one.
[26] A. Hattersley,et al. Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism , 2014, Pediatric diabetes.
[27] N. Kamal,et al. Permanent Neonatal DM in Monozygotic Twins with p.C109Y Mutation in INS Gene: First Report from Saudi Arabia , 2014 .
[28] T. Ogata,et al. Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 yr of age , 2013, Pediatric diabetes.
[29] L. Harries,et al. Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene , 2012, PloS one.
[30] M. Borowiec,et al. Paternally Inherited Proinsulin Mutations May Result in Earlier Onset of Monogenic Diabetes Mutation Identity Effect in Monogenic Diabetes , 2011, Diabetes Care.
[31] P. Arvan,et al. Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth , 2010, Trends in Endocrinology & Metabolism.
[32] D. Steiner,et al. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene , 2010, Reviews in Endocrine and Metabolic Disorders.
[33] T. Hansen,et al. Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) , 2010, BMC Medical Genetics.
[34] Soo-Young Park,et al. In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes. , 2010, American journal of physiology. Endocrinology and metabolism.
[35] A. Hattersley,et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis , 2010, Proceedings of the National Academy of Sciences of the United States of America.
[36] D. Steiner,et al. Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. , 2010, Biochemical and biophysical research communications.
[37] O. Pedersen,et al. Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention , 2009, Diabetes.
[38] P. Arvan,et al. Misfolded Proinsulin Affects Bystander Proinsulin in Neonatal Diabetes* , 2009, The Journal of Biological Chemistry.
[39] D. Steiner,et al. A brief perspective on insulin production , 2009, Diabetes, obesity & metabolism.
[40] F. Meschi,et al. Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies , 2009, Diabetes Care.
[41] T. Hansen,et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. , 2008, The Journal of clinical investigation.
[42] B. Shields,et al. Insulin Mutation Screening in 1,044 Patients With Diabetes , 2008, Diabetes.
[43] Geir Joner,et al. Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes , 2008, Diabetes.
[44] A. Hattersley,et al. Insulin gene mutations as a cause of permanent neonatal diabetes , 2007, Proceedings of the National Academy of Sciences.
[45] E. Wolf,et al. Dominant-Negative Effects of a Novel Mutated Ins2 Allele Causes Early-Onset Diabetes and Severe β-Cell Loss in Munich Ins2C95S Mutant Mice , 2007, Diabetes.
[46] K. Docherty,et al. Comparative Analysis of Insulin Gene Promoters , 2006, Diabetes.
[47] B. Yusta,et al. GLP-1 receptor activation improves β cell function and survival following induction of endoplasmic reticulum stress , 2006 .
[48] M. Prentki,et al. Glucagon-like peptide-1 prevents beta cell glucolipotoxicity , 2004, Diabetologia.
[49] H. Noushmehr,et al. Glucagon-like peptide 1 inhibits cell apoptosis and improves glucose responsiveness of freshly isolated human islets. , 2003, Endocrinology.
[50] D. Ron. Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse. , 2002, The Journal of clinical investigation.
[51] W. Rutter,et al. The Insulin Gene Is Located on the Short Arm of Chromosome 11 in Humans , 1981, Diabetes.
[52] Howard M. Goodman,et al. Sequence of the human insulin gene , 1980, Nature.
[53] W. Rutter,et al. Nucleotide sequence of a cDNA clone encoding human preproinsulin , 1979, Nature.
[54] R. Ganesh,et al. Neonatal diabetes: A case series , 2016, Indian Pediatrics.
[55] S. Ellard,et al. Permanent neonatal diabetes caused by a novel mutation in the INS gene. , 2013, Diabetes research and clinical practice.
[56] Stephen O’Riordana,et al. Insulin mutation screening in 1 , 044 patients with diabetes : mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood , 2008 .
[57] Danhong Lu,et al. A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse. , 1999, The Journal of clinical investigation.
[58] D. Steiner,et al. Structure and evolution of the insulin gene. , 1985, Annual review of genetics.