RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 2 - Nuove frontiere nella stratificazione delle leucemie acute linfoidi (LAL): integrazione tra citogenetica non-convenzionale, genomica e post-genomica
• 3 - CARATTERIZZAZIONE CLINICA, GENETICA ED EVOLUTIVA DEI FENOMENI EPILETTICI NEL SONNO E DEI DISTURBI DELL'AROUSAL
• 4 - Paraparesi spastiche ereditarie: studio genetico, funzionale, clinico
• 5 - STUDI SUI FATTORI GENETICI ED IMMUNOLOGICI CHE REGOLANO IL DANNO TESSUTALE ED IL DECORSO CLINICO DELL'ARTRITE REUMATOIDE
• 6 - Studio di biologia integrata ad alta produttività per l'analisi genetica della IgA nefropatia
• 7 - Rene policistico autosomico dominante: dalla clinica alla analisi cellulare e molecolare: approccio multidisciplinare di valutazione diagnostica e prognostica
• 8 - Parkinson e parkinsonismi: epidemiologia, basi molecolari, modelli diagnostici e farmacogenetica
• 9 - Genomica e proteomica dei gliomi cerebrali: un approccio bioinformatico
• 10 - Aspetti biochimici e genetici del disturbo autistico.

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • ENDOCRINOLOGIA
  • PEDIATRIA GENERALE E SPECIALISTICA

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
• HUMAN NECESSITIES
  • MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • DIAGNOSIS; SURGERY; IDENTIFICATION (analysing biological material G01N, e.g. G01N33/48; obtaining records using waves other than optical waves, in general G03B42/00)

Bibliografia

Altshuler D, Hirschhorn JN, Klannemark M, et al.. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.Nat Genet. 2000; 26: 76.

Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest. 2005; 115: 2047.

Aynsley-Green A, Polak JM, Bloom SR, et al. Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch Dis Child. 1981; 56 :496.

Butcher L.M., Meaburn E., Liu L., et al. Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits. Behav Genet. 2004; 34: 549.

Carlson C.S., Eberle M.A., Kruglyak L., Nickerson D.A. Mapping complex disease loci in whole-genome association studies. Nature. 2004; 429: 446.

Cosgrove KE, Shepherd RM, Fernandez EM,et al. Genetics and pathophysiology of hyperinsulinism in infancy. Horm Res. 2004; 61: 270.

de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997;100: 802.

de Lonlay P, Fournet JC, Touati G, et al. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 2002; 161: 37.

Dunne A, Hall J, Saudubray JM, et al. Pratical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal. 2000; 82: E98-F10.

Dunne MJ, Cosgrove KE, Shepherd RM,et al. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev. 2004; 84: 239.

Fekete CN, de Lonlay P, Jaubert F,et al. The surgical management of congenital
hyperinsulinemic hypoglycemia in infancy. J Pediatr Surg. 2004; 39: 267.


Florez JC, Hirschhorn J, Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet. 2003; 4: 257.

Fournet JC, Mayaud C, de Lonlay P,et al. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol.2001; 158: 2177.

Goddard K.A. and Wijsman,E.M. Characteristics of genetic markers and maps for cost-effective genome screens using diallelic markers. Genet. Epidemiol. 2002; 22: 205.

Huopio H, Reimann F, Ashfield R, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest. 2000; 106: 897.

Lindley KJ, Dunne MJ. Contemporarary strategies in the diagnosis and management of neonatal hyperisulinaemic hypoglycaemia. Early Human Development. 2005; 81:61.

Matise T.C., Sachidanandam,R, Clark,A.G., et al. A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am. J. Hum. Genet. 2003; 73: 271.

Matsuzaki H., Dong S., Loi H., Di X., Liu G., Hubbell E., Law J., Berntsten T., Chadha M., Hui H., et al. Genotyping over 100000 SNPs on a pair of oligonucleotide arrays. Nature Methods. 2004; 1: 109.

Meaburn E, Butcher LM, Schalkwyk LC, Plomin R. Genotyping pooled DNA using 100K SNP microarrays: a step towards genome-wide association scans. Nucleic Acids Res. 2006; 34: e27.

Meissner T, Otonkoski T, Feneberg R, et al Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child. 2001; 84: 254.

Menni F, de Lonlay P, Sevin C, Touati G, et al Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics. 2001; 107: 476.

Molven A, Rishaug U, Matre GE,et al. Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family. Am J Med Genet. 2002; 113 : 40.

Otonkoski T, Ammala C, Huopio H,et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes. 1999; 48 408.

Rother KI, Matsumoto JMS, Rasmussen NH, Schwenk WF: Subtotal pancreasectomy for hypoglycaemia due to congenital hyperinsulinism: Long-term follow-up of neurodevelopmental and pancreatic function. Pediatr Diabetes. 2001; 2: 115.

Sellick GS, Longman C, Tolmie J,et al. Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res. 2004; 32:164.

Sharma N, Crane A, Gonzalez G, Bryan J, Aguilar-Bryan L. Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. Kidney Int. 2000; 57: 803.

Shen J, Eyad W, Machida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005; 42: 725.

Shephard N John S, , Liu G, Zeggini E, et al. Whole-genome scan, in a complex disease, using11,245 single-nucleotide polymorphisms: comparison with microsatellites. Am J Hum Genet 2004; 75: 54.

Shepherd RM, Cosgrove KE, O'Brien RE,et al. Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.Arch Dis Child Fetal Neonatal Ed. 2000 Mar; 82 F87-97..

Shrimpton A., Levinsohn EM, Yozawitz JM, Packard DSJr, Cady RB, Middleton FA, Persico AM, Hootnick DR. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet 2004; 75: 92.

Soltész G, Aynsley-Green A, Morris A. Approach to the diagnosis of hypoglycaemia in infant and children. Ranke MB (ed): Diagnosis of endocrine function in children and in adolescent. Basel Karger, 2003; 293.

Stanley CA, Thornton PS, Ganguly A,et al. Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab. 2004; 89: 288.

Stanley CA. Advances in diagnosis and treatment of hyperinsulinism in infants and children. JClin Endocrinol Metab. 2002; 87: 4857.
Strittmatter WJ, Roses AD. Apolipoprotein E and Alzheimer's disease.Annu Rev Neurosci. 1996; 19: 53.

Sund NJ, Vatamaniuk MZ, Casey M,et al. Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. Genes Dev. 2001; 15: 1706.

The International HapMap Consortim A aplothype map of the human genome. Nature 2005; 437: 1299.

Ueda H, Howson JM, Esposito L, et al Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Naature. 2003; 423: 506


Uhlenberg B, Schuelke , Ruschendorf F, et al. Mutations in the gene encoding gap junction proteinalpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.Am J Hum Genet. 2004; 75: 51.

Ventre JC, Adams MD, Myers et al. The sequence of the human genome. Science 2001; 291: 1304.

Verzotti A, Fusilli P, Pallotta R, et al. Hypoglycaemia in childood: a clinical approach. J Pediatr Endocr Met 1998; 11: 147.

Wilson A.F. and Sorant, A.J. Equivalence of single- and multilocus markers: power to detect linkage with composite markers derived from biallelic loci. Am. J. Hum. Genet 2000; 66: 1610.

Parole Chiave

IPERINSULINISMO CONGENITO DELL'INFANZIA, ABCC8, KCNJ11, SINGOLI POLIMORFISMI NUCLEOTIDICI, GENOME-WIDE ANALISI, ANALISI DI LINKAGE, CORRELAZIONE GENOTIPO-FENOTIPO, EPIDEMIOLOGIA, REGISTRO NAZIONALE