Erratum to: Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene
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[1] F. Sanger. Chemistry of insulin; determination of the structure of insulin opens the way to greater understanding of life processes. , 1959, Science.
[2] D. Nicol,et al. Amino-Acid Sequence of Human Insulin , 1960, Nature.
[3] D. Steiner,et al. Insulin Biosynthesis: Evidence for a Precursor , 1967, Science.
[4] J. Kimmel,et al. Studies of Human Insulin from Nondiabetic and Diabetic Pancreas , 1967, Diabetes.
[5] Raymond Scalettar,et al. The Metabolic Basis of Inherited Disease , 1967 .
[6] D. Steiner,et al. Studies on human proinsulin. Isolation and amino acid sequence of the human pancreatic C-peptide. , 1971, The Journal of biological chemistry.
[7] W. Rutter,et al. Nucleotide sequence of a cDNA clone encoding human preproinsulin , 1979, Nature.
[8] J. Olefsky,et al. A structurally abnormal insulin causing human diabetes , 1979, Nature.
[9] R. Bergenstal,et al. Familial hyperproinsulinemia: partial characterization of circulating proinsulin-like material. , 1979, Proceedings of the National Academy of Sciences of the United States of America.
[10] J. Olefsky,et al. Diabetes due to secretion of an abnormal insulin. , 1980, The New England journal of medicine.
[11] Howard M. Goodman,et al. Sequence of the human insulin gene , 1980, Nature.
[12] P. Gruppuso,et al. Familial hyperproinsulinemia due to a proposed defect in conversion of proinsulin to insulin. , 1984, The New England journal of medicine.
[13] K. Polonsky,et al. Familial hyperinsulinemia due to a structurally abnormal insulin. Definition of an emerging new clinical syndrome. , 1984, The New England journal of medicine.
[14] T. Kawakami,et al. Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. , 1985, The Journal of clinical investigation.
[15] Y. Iwamoto,et al. A New Case of Abnormal Insulinemia with Diabetes: Reduced Insulin Values Determined by Radioreceptor Assay , 1986, Diabetes.
[16] T. Sanke,et al. Diabetes due to secretion of a structurally abnormal insulin (insulin Wakayama). Clinical and functional characteristics of [LeuA3] insulin. , 1986, The Journal of clinical investigation.
[17] R. Hammer,et al. A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[18] D. Accili,et al. Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. , 1990, The Journal of clinical endocrinology and metabolism.
[19] D. Pipeleers,et al. Measuring the balance between insulin synthesis and insulin release. , 1991, Biochemical and biophysical research communications.
[20] K. Polonsky,et al. A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). , 1992, The Journal of clinical investigation.
[21] D. Steiner,et al. Familial Hyperproinsulinemia Associated With NIDDM: A case study , 1993, Diabetes Care.
[22] M. Nauck,et al. Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg65-His) not associated with imparied glucose tolerance: the contribution of mutant proinsulin to insulin bioactivity. , 1996, The Journal of clinical endocrinology and metabolism.
[23] K. Polonsky,et al. A novel point mutation in the insulin gene giving rise to hyperproinsulinemia. , 1997, The Journal of clinical endocrinology and metabolism.
[24] P. Bénit,et al. Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping , 1998, European Journal of Pediatrics.
[25] 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.
[26] T. Kato,et al. Polymorphisms of the insulin gene among Japanese subjects. , 2001, Metabolism: clinical and experimental.
[27] Masataka Mori,et al. Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes. , 2002, The Journal of clinical investigation.
[28] P. Halban,et al. Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse. , 2003, Diabetes.
[29] K. Polonsky,et al. Insulin Wakayama: familial mutant insulin syndrome in Japan , 1987, Diabetologia.
[30] F. Ashcroft,et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. , 2004, The New England journal of medicine.
[31] K. Lemaire,et al. Probe-Independent and Direct Quantification of Insulin mRNA and Growth Hormone mRNA in Enriched Cell Preparations , 2006, Diabetes.
[32] R. Scharfmann,et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. , 2006, The New England journal of medicine.
[33] A. Hattersley,et al. Insulin gene mutations as a cause of permanent neonatal diabetes , 2007, Proceedings of the National Academy of Sciences.
[34] 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.
[35] B. Shields,et al. Insulin Mutation Screening in 1,044 Patients With Diabetes , 2008, Diabetes.
[36] S. Ellard,et al. Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. , 2008, JOP : Journal of the pancreas.
[37] M. McCarthy,et al. Learning From Molecular Genetics Novel Insights Arising From the Definition of Genes for Monogenic and Type 2 Diabetes , 2008 .
[38] R. Scharfmann,et al. Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy , 2008, Diabetes.
[39] Geir Joner,et al. Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes , 2008, Diabetes.
[40] 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.
[41] 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.
[42] F. Meschi,et al. Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies , 2009, Diabetes Care.
[43] T. Hansen,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.
[44] S. Ellard,et al. Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism , 2009, Human mutation.
[45] P. Arvan,et al. Misfolded Proinsulin Affects Bystander Proinsulin in Neonatal Diabetes* , 2009, The Journal of Biological Chemistry.
[46] J. Argente,et al. Testing for monogenic diabetes among children and adolescents with antibody‐negative clinically defined Type 1 diabetes , 2009, Diabetic medicine : a journal of the British Diabetic Association.
[47] 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.
[48] 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.
[49] 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.