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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 | Human Papillomavirus (HPV) DNA Copy Number Is Dependent on Grade of Cervical Disease and HPV Type显示文摘 | David C S Ruth A T Guillermo T L | 1999 | Clin Microbiol1999，37，： | 1 |
| 3 | Isolation and molecular characterization of Barma virus from mosquitoes,Vietnam显示文摘 | Nabeshima T Nga PT Guillermo P | 2008 | Emerg Infect Dis2008，14，8： | 1 |
| 4 | Periphyton on artificial substrata from three lakes of different trophic status at Hope Bay (Antaretica)显示文摘 | Haydee P Alicia V Guillermo T | 2002 | Polar Biol2002，，25： | 1 |
| 5 | Isolation and molecular characterization of Banna virus from mosquitoes,Vietnam显示文摘 | Nabeshima T Thi Nga P Guillermo P | 2008 | Emerg Infect Dis2008，14，8： | 1 |
| 6 | Drought Analysis with Reservoirs Using Tree - Ring Reconstructed Flows 显示文摘 | Shen H W Guillermo Q T | 1995 | Journal of Hydraulic Engi- neering1995，121，5： | 1 |
| 7 | Knowledge-based segmentation of SAR data with learned priors显示文摘 | Steven H Guillermo S Allen T | 2000 | IEEE Trans Image Processing2000，9，2： | 1 |
| 8 | Human papillomavirus (HPV) DNA copy number is dependent on grade of cervical disease and HPV type显示文摘 | David C S Ruth A T Guillermo T L | 1999 | Clin Microbiol1999，37，： | 1 |
| 9 | Spherical Micro Aggregation; Anonymizing Sparse Vector Spaces 显示文摘 | Proceedings of the 30th I EEE Internationa Anonymization Over Big Data Using Map Daniel A Guillermo N Vicen T | 2015 | Computers & Security2015，，3： | 1 |
| 10 | Comparison of glomerular filtration rate between greyhounds and non-greyhound dogs 显示文摘 | Wm T D Guillermo C C Anthony J F | 2006 | Journal of Veterinary Internal Medicine2006，20，3： | 1 |
| 11 | Aldosterone antagonism and congestive heart failure: a new look at an old therapy 显示文摘 | VINAY T GUILLERMO T A MICHEAL M K | 2004 | Curr Opin Cardiol2004，19，4： | 1 |
| 12 | Fermentation of glucose/xylose mixtures using Pichia stipitis显示文摘 | Frank K A Guillermo C K Mads T S | 2006 | Proe Bioehem2006，41，： | 1 |
| 13 | Molecular and biochemical characterization of two P450 enzymes in the ecdysteroidogenic pathway of Drosophila melanogaster显示文摘 | Warren J T Petryk A Guillermo M | | 0，，： | 1 |
| 14 | Tumor mecrosis-α and tumor necrosis factor receptors in the failing human heart 显示文摘 | Guillermo T A Kapdia S Lee J | 1996 | Circulation1996，93，2： | 1 |
| 15 | Isolation and molecular characterization of Banna virus from mosquitoes, Vietnam 显示文摘 | Nabeshima T Thi Nga P Guillermo P | 2008 | Emerg Infect Dis2008，14，8： | 1 |
| 16 | American Association of Clinical Endocrinologists and American Diabetes Association Consensus Statement on Inpatient Glycemic Control显示文摘 | Moghissi Etie S Korytkowski Mary T DiNardo Monica Einhorn Daniel Hellman Richard Hirsch Irl B Inzucchi Silvio E Ismail-Beigi Faramarz Kirkman M Sue Umpierrez Guillermo E | 2009 | Diabetes Care2009，，6： | 1 |
| 17 | Hydrogenation of edible oil, over Pd catalysts: A combined theoretical and experimental study显示文摘 | Maria B F Gabriela M T Guillermo H C | 2005 | Journal of Molecular Catalysis A : Chemical2005，237，2： | 1 |
| 18 | Biology of Zagella Delicata ( Hymenoptera: Trichogrammatidae), An Egg Parasitoid of The Sharpshooter Tapajosa Rubromarginata ( Hemiptera : Clypeorrhyncha: Cieadellidae) In Argentina 显示文摘 | Guillermo A L Eduardo G V Serguei V T | 2004 | Florida Entomologist2004，87，4： | 1 |
| 19 | Knowledge 2 based segmentation of SAR data with learned priors显示文摘 | Steven H Guillermo S Allen T | 2000 | IEEE Trans Image Processing2000，9，2： | 1 |
| 20 | State-space nonlinear process modeling:identification and universality显示文摘 | SENTONI GUILLERMO B BIEGLER LORENZ T | 1998 | AICHE Journal1998，44，10： | 1 |
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