Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy
暂无分享,去创建一个
Lucia Sacchetti | A. Zagari | A. Franzese | A. De Simone | L. Sacchetti | R. Spadaro | Alfonso De Simone | Adriana Zagari | Marina Capuano | Nadia Tinto | Valentina Capobianco | Adriana Franzese | Gerardo Daniele | Michela Giugliano | Raffaella Spadaro | N. Tinto | V. Capobianco | M. Capuano | Gerardo Daniele | M. Giugliano | Alfonso De Simone
[1] W. V. van Gunsteren,et al. An efficient mean solvation force model for use in molecular dynamics simulations of proteins in aqueous solution. , 1996, Journal of molecular biology.
[2] A. Gloyn. Glucokinase (GCK) mutations in hyper‐ and hypoglycemia: Maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy , 2003, Human mutation.
[3] R. Lorini,et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI , 2001, Diabetologia.
[4] D. van der Spoel,et al. GROMACS: A message-passing parallel molecular dynamics implementation , 1995 .
[5] M. Veiga-da-Cunha,et al. Amino Acid Conservation in Animal Glucokinases , 1996, The Journal of Biological Chemistry.
[6] M. Stoffel,et al. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[7] M. Polak,et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission , 2004, Archives of Disease in Childhood - Fetal and Neonatal Edition.
[8] C. Wanner,et al. Are glucokinase mutations associated with low triglycerides? , 2005, Clinical chemistry.
[9] Shumei S. Guo,et al. 2000 CDC Growth Charts for the United States: methods and development. , 2002, Vital and health statistics. Series 11, Data from the National Health Survey.
[10] J. D. den Dunnen,et al. Standardizing mutation nomenclature: Why bother? , 2003, Human mutation.
[11] T. Frayling,et al. Insights on pathogenesis of type 2 diabetes from MODY genetics , 2007, Current diabetes reports.
[12] C. Buettger,et al. Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI). , 1999, The Biochemical journal.
[13] P. Stenson,et al. The Human Gene Mutation Database (HGMD) and Its Exploitation in the Study of Mutational Mechanisms , 2005, Current protocols in bioinformatics.
[14] M. White,et al. Molecular insights into insulin action and secretion , 2002, European journal of clinical investigation.
[15] H. Fromm,et al. Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphate. , 1998, Journal of molecular biology.
[16] G I Bell,et al. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. , 2001, The New England journal of medicine.
[17] N. Ben-Tal,et al. The ConSurf‐HSSP database: The mapping of evolutionary conservation among homologs onto PDB structures , 2004, Proteins.
[18] D. Lipman,et al. National Center for Biotechnology Information , 2019, Springer Reference Medizin.
[19] Teruyuki Nishimura,et al. Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase. , 2004, Structure.
[20] T. Hansen,et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young , 2007, Diabetologia.
[21] A. Sali,et al. Modeller: generation and refinement of homology-based protein structure models. , 2003, Methods in enzymology.
[22] Shumei S. Guo,et al. CDC GROWTH CHARTS FOR THE UNITED STATES: METHODS AND DEVELOPMENT 2000 , 2002 .
[23] M. Gahr,et al. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity‐onset diabetes of the young (MODY) , 2005, Human Mutation.
[24] A. Molven,et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction , 2006, Nature Genetics.
[25] O. Horaitis,et al. Human Genome Variation Society , 2006, Springer Reference Medizin.
[26] T. Hansen,et al. Six novel mutations in the GCK gene in MODY patients , 2006, Clinical genetics.
[27] Sian Ellard,et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight , 1998, Nature Genetics.
[28] Lester R Curtin,et al. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. , 2002, Pediatrics.
[29] S. Antonarakis,et al. Nomenclature for the description of human sequence variations , 2001, Human Genetics.
[30] C. de Beaufort,et al. From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation , 2006, Diabetes.
[31] P. Iynedjian. Mammalian glucokinase and its gene. , 1993, The Biochemical journal.
[32] A. Franzese,et al. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of “neonatal diabetes”? , 2000, Diabetologia.
[33] E. Blázquez,et al. Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity , 2007, Diabetologia.
[34] P. Froguel,et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families , 1997, Diabetologia.
[35] Ncbi. National Center for Biotechnology Information , 2008 .
[36] S. Zucchini,et al. Identification of eight novel glucokinase mutations in Italian children with maturity‐onset diabetes of the young , 2003, Human mutation.
[37] Stephen P. Miller,et al. Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. , 1999, Diabetes.