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Your search keyword '"Trans-heterozogosity"' showing total 3 results
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3 results on '"Trans-heterozogosity"'

1. Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Author

Valentina Maria Sofia, Cecilia Surace, Vito Terlizzi, Letizia Da Sacco, Federico Alghisi, Antonella Angiolillo, Cesare Braggion, Natalia Cirilli, Carla Colombo, Antonella Di Lullo, Rita Padoan, Serena Quattrucci, Valeria Raia, Giuseppe Tuccio, Federica Zarrilli, Anna Cristina Tomaiuolo, Antonio Novelli, Vincenzina Lucidi, Marco Lucarelli, Giuseppe Castaldo, and Adriano Angioni

Subjects
Cystic fibrosis, Recurrent/chronic pancreatitis, CFTR gene, Trypsin, Pancreatic pathways, Trans-heterozogosity, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436
Abstract

Abstract Background Recurrent (RP) and chronic pancreatitis (CP) may complicate Cystic Fibrosis (CF). It is still unknown if mutations in genes involved in the intrapancreatic activation of trypsin (IPAT) or in the pancreatic secretion pathway (PSP) may enhance the risk for RP/CP in patients with CF. Methods We enrolled: 48 patients affected by CF complicated by RP/CP and, as controls 35 patients with CF without pancreatitis and 80 unrelated healthy subjects. We tested a panel of 8 genes involved in the IPAT, i.e. PRSS1, PRSS2, SPINK1, CTRC, CASR, CFTR, CTSB and KRT8 and 23 additional genes implicated in the PSP. Results We found 14/48 patients (29.2%) with mutations in genes involved in IPAT in the group of CF patients with RP/CP, while mutations in such genes were found in 2/35 (5.7%) patients with CF without pancreatitis and in 3/80 (3.8%) healthy subjects (p

Published
2018
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2. Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Author

Sofia, Valentina Maria, Surace, Cecilia, Terlizzi, Vito, Da Sacco, Letizia, Alghisi, Federico, Angiolillo, Antonella, Braggion, Cesare, Cirilli, Natalia, Colombo, Carla, Di Lullo, Antonella, Padoan, Rita, Quattrucci, Serena, Raia, Valeria, Tuccio, Giuseppe, Zarrilli, Federica, Tomaiuolo, Anna Cristina, Novelli, Antonio, Lucidi, Vincenzina, Lucarelli, Marco, Castaldo, Giuseppe, and Angioni, Adriano

Published
2018
Full Text
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3. Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Author

Anna Cristina Tomaiuolo, F. Alghisi, R. Padoan, Marco Lucarelli, Letizia Da Sacco, Giuseppe Castaldo, Valeria Raia, Natalia Cirilli, Serena Quattrucci, Antonella Angiolillo, Adriano Angioni, G. Tuccio, Valentina Maria Sofia, Antonio Novelli, Vincenzina Lucidi, Vito Terlizzi, Federica Zarrilli, Carla Colombo, Antonella Miriam Di Lullo, Cesare Braggion, Cecilia Surace, Sofia, Vm, Surace, C, Terlizzi, V, Da Sacco, L, Alghisi, F, Angiolillo, A, Braggion, C, Cirilli, N, Colombo, C, Di Lullo, A, Padoan, R, Quattrucci, S, Raia, V, Tuccio, G, Zarrilli, F, Tomaiuolo, Ac, Novelli, A, Lucidi, V, Lucarelli, M, Castaldo, G, and Angioni, A

Subjects
0301 basic medicine, Trans-heterozogosity, Cystic Fibrosis Transmembrane Conductance Regulator, Gastroenterology, Cystic fibrosis, Loss of heterozygosity, Recurrence, Medicine, lcsh:QD415-436, Trypsin, Child, Genetics (clinical), Middle Aged, Pancreatic pathways, Pancreatic pathway, Cystic fibrosi, Child, Preschool, Molecular Medicine, medicine.drug, Research Article, Adult, Risk, medicine.medical_specialty, Adolescent, lcsh:Biochemistry, 03 medical and health sciences, Young Adult, CFTR gene, Internal medicine, Pancreatitis, Chronic, Genetics, PRSS2, Humans, Recurrent/chronic pancreatitis, In patient, Genetic Predisposition to Disease, Molecular Biology, Gene, Pancreas, business.industry, lcsh:RM1-950, Infant, Newborn, Infant, medicine.disease, Molecular medicine, Recurrent/chronic pancreatiti, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, Mutation, Pancreatitis, business
Abstract

Background Recurrent (RP) and chronic pancreatitis (CP) may complicate Cystic Fibrosis (CF). It is still unknown if mutations in genes involved in the intrapancreatic activation of trypsin (IPAT) or in the pancreatic secretion pathway (PSP) may enhance the risk for RP/CP in patients with CF. Methods We enrolled: 48 patients affected by CF complicated by RP/CP and, as controls 35 patients with CF without pancreatitis and 80 unrelated healthy subjects. We tested a panel of 8 genes involved in the IPAT, i.e. PRSS1, PRSS2, SPINK1, CTRC, CASR, CFTR, CTSB and KRT8 and 23 additional genes implicated in the PSP. Results We found 14/48 patients (29.2%) with mutations in genes involved in IPAT in the group of CF patients with RP/CP, while mutations in such genes were found in 2/35 (5.7%) patients with CF without pancreatitis and in 3/80 (3.8%) healthy subjects (p

Published
2018

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