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| 1 | PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis显示文摘AIM: To identify gene mutations in PRSS1 and SPINK1 in individuals with early onset idiopathic chronic or recurrent acute pancreatitis.METHODS: The cationic trypsinogen gene(PRSS1; exons 2 and 3) and the serine protease inhibitor Kazal 1 gene(SPINK1; exon 3) were selectively amplified and sequenced from blood samples of 19 patients admitted to the Pancreas Clinic at our institution with chronic pancreatitis and/or idiopathic recurrent acute pancreatitis that were diagnosed or with onset before age 35. Fifty healthy volunteers served as controls. Whole blood samples were collected and gene specific sequences were amplified by polymerase chain reaction(PCR). All PCR products were subsequently sequenced in order to identify the presence of any mutations.RESULTS: Nineteen patients with pancreatitis(14 males; median age 24 years, range 15-48 years) were included in this study, of which five showed the presence of gene mutations. Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1(V39E and N42S) in two patients with recurrent acute pancreatitis. Two cases had the N34 S SPINK1 mutation. Analysis of the relatives of one patient homozygous for this mutation showed that five of the six family members carried the N34 S SPINK1 mutation. Of these members, three were healthy heterozygous carriers and two were homozygotes(one sibling had diabetes, the other was healthy). Another patient was heterozygous for a novel SPINK1 mutation located on exon 3(V46D). All members from this patient's family had normal genotypes, indicating that it was a de novo mutation. No mutations in either gene were present in the control subjects. CONCLUSION: Two novel PRSS1 mutations and one novel SPINK1 mutation were identified in Mexican patients with early onset idiopathic recurrent acute pancreatitis. | Mario Pelaez-Luna Guillermo Robles-Diaz Samuel Canizales-Quinteros Maria T Tusié-Luna | 2014 | World Journal of Gastroenterology2014，20，33： | 7 |
| 2 | Hepatic angiomyolipoma a clinicopathologic study of 30 cases and delineation of unusual morphologic variants 显示文摘 | Tusi W M Colombri R Portmann B C | 1999 | Am J Surg Pathol1999，23，： | 1 |
| 3 | Generalized p-values in significance testing of hypotheses in the presence of nuisance parameters 显示文摘 | Tusi K W Weerahandi S | 1989 | Journal of the American Statistical Association1989，84，406： | 1 |
| 4 | Alginate oligosaccha- ride protects against endoplasmic reticulum- and mitochondri- al-mediated apoptotie cell death and oxidative stress显示文摘 | Tusi S K Khalaj L Ashabi G | 2011 | Bio- materials2011，32，23： | 1 |
| 5 | Search for new phar- macophores for antimalarial activity, part II: synthesis and antimalarial activity of new 6-ureido-4-anilinoquin- azolines 显示文摘 | Madapa S Tusi Z Batra S | 2009 | Bioorg Med Chem2009，17，： | 1 |
| 6 | Generalized p-value in significance testing of hypotheses in the presence of nuisance parameters 显示文摘 | Tusi K W Weerahandi S | 1989 | J Amer Statist As- soc1989，84，： | 1 |
| 7 | Alternative approaches to the employee organization relation: Does investment in employees pay off显示文摘 | Tusi A S Pearce J L Porter L W | 1997 | Academy of Management Journal1997，0，5： | 1 |
| 8 | Local tax system, Intergovernmental transfers and Chinag local fiscal disparities显示文摘 | Tusi Kai -yuen | 2005 | Journal of Comparative Economics2005，，22： | 1 |
| 9 | Alternative approaches to the employee - organization relationship : Does invest- ment in employee pay off? 显示文摘 | TUSI A S PEARCE J L PORTER L W | 1997 | Academy of Management Journal1997，40，5： | 1 |
| 10 | Synthesis and biological activity of substituted 2,4,6-s-triazines显示文摘 | Pauley VK Tusi S and Tusi Z | 2004 | Acta Pharm2004，54，1： | 1 |
| 11 | Do secondary L2 writers benefit from peer comments? 显示文摘 | TUSI A B Ng M | 2002 | Journal of Second Language Writing2002，9，2： | 1 |
| 12 | Beyond simple demographic effects: the importance of relational demography in superior-subordinate dyads显示文摘 | Tusi A & O'Reilly C | 1989 | Academy of Management Journal1989，32，： | 1 |
| 13 | Attenuation of NF-kappaB and activation of Nrf2 signaling by 1,2,4-triazine derivatives,protects neuron-hke PC12 cells against apoptosis显示文摘 | Tusi SK Ansari N Amini M | | 0，，： | 1 |
| 14 | Electro-oxidation of methanol and ethanol using PtRu/C, PtSn/C and PtSnRu/C electrocatalysts prepared by an alcohol-reduction process 显示文摘 | NETO A O DIAS R R TUSI M M | 2007 | J Power Sources2007，166，： | 1 |
| 15 | The Type IVB pili of Salmonella enterica serovar typhi bind to the cystic fibrosis transmembrane conductance regulator显示文摘 | TUSI ISM YIP CMC HACKETT J | 2003 | Infect Immun2003，71，： | 1 |
| 16 | Data, network and application~ Technical description of the Utah RODS Winter O- lympic Biosurveillance System 显示文摘 | Tusi FC Espino JU Wagner MM | 2002 | Proc AMIA Syrup2002，，： | 1 |
| 17 | Generalized p-value in significance testing of hypotheses in the presence of nuisance parameters 显示文摘 | TUSI K W WEERAHANDI S | 1989 | J Amer Statist Assoc1989，84，： | 1 |
| 18 | Contextualization in Chinese management research 显示文摘 | Tusi A S | 2006 | Management and Organization Review2006，，2： | 1 |
| 19 | Choice of employee - organization relationship: influ- ence of external and internal organizational factors 显示文摘 | TUSI | 1995 | Re- search in Personnel and Human Resource Management1995，，： | 1 |
| 20 | Alternative approaches to the employee - organization relationship:dose inducement in employees pay off 显示文摘 | TUSI | 1997 | A- cademy of Management Journal1997，，： | 1 |
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