Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India

References

• Truninger K, Ammannb WR, Bluma EH, Witt H. Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications. Swiss Med Wk 2001; 131: 565–74
   PubMed Web of Science ®Google Scholar
• Whitcomb DC. Mechanisms of disease: advances in understanding the mechanisms leading to chronic pancreatitis. Gastroenterol Hepatol 2004; 1: 46–52
   Google Scholar
• Cavestro MG, Comparato G, Nouvenne A, Sereni G, Bertolini S, Frulloni L, et al. Genetics of chronic pancreatitis. J Pancreas 2005; 6: 53–9
   PubMedGoogle Scholar
• Balakrishnan V, Nandakumar, R, Lakshmi, R. Tropical pancreatitis: what is happening to it? In: Balakrishnan V, Kumar H, Sudhindran S, Unni Krishnan AG. Chronic pancreatitis and pancreatic diabetes in India: The Indian Pancreatitis Study Group, CochinIndia. 2006. pp 23–54.
   Google Scholar
• Balakrishnan V, Nair P, Radhakrishnan L, Narayanan VA. Tropical pancreatitis: a distinct entity, or merely a type of chronic pancreatitis?. Indian J Gastroenterol 2006; 25: 74–81
   PubMedGoogle Scholar
• Chandak GR, Idris MM, Reddy DN, Mani KR, Bhaskar S, Rao GV, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut 2004; 53: 723–8
   PubMed Web of Science ®Google Scholar
• Cohn AJ, Friedman JK, Noone GP, Knowles RM, Silverman ML, Jewell SP. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. New Indian J Med 1998; 339: 653–8
   Google Scholar
• Felderbauer P, Hoffmann P, Einwächter H, Bulut K, Ansorge N, Schmitz F, et al. A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations. BMC Gastroenterol 2003; 3: 1–8
   PubMed Web of Science ®Google Scholar
• Brown EM. Editorial: mutant extracellular calcium sensing receptors and severity of disease. J Clin Endocrinol Metab 2005; 90: 1246–8
   PubMed Web of Science ®Google Scholar
• Janicic N, Soliman E, Pausova Z. Mapping of the calcium sensing receptor gene to human chromosome 3q13.3-21 by fluorescence in situ hybridization and localization to rat chromosome 11 and mouse chromosome 16. Mamm Genome 1995; 6: 798–801
   PubMed Web of Science ®Google Scholar
• Pearce SHS. clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor. Ann Med 2002; 34: 201–6
   PubMed Web of Science ®Google Scholar
• Frick TW, Fernández-del-Castillo C, Bimmler D, Warshawa AL. Elevated calcium and activation of trypsinogen in rat pancreatic acini. Gut 1997; 41: 339–43
   PubMed Web of Science ®Google Scholar
• Rácz GZ, Kittel Á, Riccardi D, Case RM, Elliott AC, Varga G. Extracellular calcium sensing receptor in human pancreatic cells. Gut 2002; 51: 705–11
   PubMed Web of Science ®Google Scholar
• Pidasheva S, D’ Souza-Li L, Canaff L, Cole De, Hendy GN. Calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2004;24:107–11.
   PubMed Web of Science ®Google Scholar
• Felderbauer P, Klein W, Bulut K, Ansorge N, Dekomien G, Werner I, et al. Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?. Scand J Gastroenterol 2006; 41: 343–8
   PubMed Web of Science ®Google Scholar
• Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PVJ, Singh L. Mutations in the pancreatic secretory trypsin inhibitor gene (PST1/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. J Med Genet 2002; 39: 347–51
   PubMed Web of Science ®Google Scholar
• Chari ST, Mohan V, Pitchumoni CS, Vishwanathan M, Madhanagopalan N, Lowenfel AB. Risk of pancreatic carcinoma in tropical calcifying pancreatitis: an epidemiological study. Pancreas 1994; 9: 62–6
   PubMed Web of Science ®Google Scholar
• Geevarghese PJ, Pitchumoni CS, Nair SR. Is protein malnutrition an initiating cause of pancreatic calcification?. J Assoc Phys India 1969; 17: 417–9
   PubMedGoogle Scholar
• Balakrishnan V. Pancreatite tropicale. In: Bernades P, Hugier M. Maladies du pancreas exocrine. Paris: Doin editeurs; 1987. pp. 207–217.
   Google Scholar
• Rossi L, Pfützer RH, Parvin S, Ali L, Sattar S, Azad Khan AK, et al. SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. Pancreatology 2001; 1: 242–5
   PubMed Web of Science ®Google Scholar
• Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology 2002; 123: 1020–5
   PubMed Web of Science ®Google Scholar
• Kruger B, Albrecht E, Lerch MM. The role of intracellular calcium signaling in premature protease activation and the onset of pancreatitis. Am J Pathol 2000; 157: 43–50
   PubMed Web of Science ®Google Scholar
• Jones DT. Protein secondary structure prediction based on position-specific scoring matrices. J Mol Biol 1999; 292: 195–202
   PubMed Web of Science ®Google Scholar
• McGuffin LJ, Bryson K, Jones DT. The PSIPRED protein structure prediction server. Bioinformatics 2000; 16: 404–5
   PubMed Web of Science ®Google Scholar
• Drenth JP, te Morsche R, Jansen JB. Mutations in serine protease inhibitor kazal type 1 are strongly associated with chronic pancreatitis. Gut 2002;50:687–92.
   PubMed Web of Science ®Google Scholar
• Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999; 117: 7–10
   PubMed Web of Science ®Google Scholar
• Cohn JA, Neoptolemos JP, Feng J. Increased risk of idiopathic chronic panceatitis in cystic fibrosis carriers. Hum Mutation 2005; 26: 303–7
   PubMed Web of Science ®Google Scholar