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您的检索式：作者名="Francesca Duraturo"
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| 1 | Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis显示文摘AIM:To investigated the molecular cause of very early-onset ulcerative colitis(UC)in an 18-mo-old affected child.METHODS:We analysed the interleukin-10(IL10)receptor genes at the DNA and RNA level in the proband and his relatives.Beta catenin and tumor necrosis factor-α(TNFα)receptors were analysed in the proteins extracted from peripheral blood cells of the proband,his relatives and familial adenomatous polyposis(FAP)and PTEN hamartoma tumor syndrome(PHTS)patients.Samples were also collected from the proband’s inflamed colorectal mucosa and compared to healthy and tumour mucosa collected from a FAP patient and patients affected by sporadic colorectal cancer(CRC).Finally,we examined mesalazine and azathioprine effects on primary fibroblasts stabilised from UC and FAP patients.RESULTS:Our patient was a compound heterozygote for the IL10RB E47K polymorphism,inherited from his father,and for a novel point mutation within the IL10RA promoter(the-413G->T),inherited from his mother.Beta catenin and tumour necrosis factorαreceptors-Ⅰ(TNFRI)protein were both over-expressed in peripheral blood cells of the proband’s relatives more than the proband.However,TNFRII was over-expressed only in the proband.Finally,both TNFα-receptors were shown to be under-expressed in the inflamed colon mucosa and colorectal cancer tissue compared to healthy colon mucosa.Consistent with this observation,mesalazine and azathioprine induced,in primary fibroblasts,IL10RB and TNFRII over-expression and TNFRI and TNFαunder-expression.We suggest thatβ-catenin and TNFRI protein expression in peripheral blood cells could represent molecular markers of sub-clinical disease in apparently healthy relatives of patients with early-onset UC.CONCLUSION:A synergistic effect of several variant alleles of the IL10 receptor genes,inherited in a Mende-lian manner,is involved in UC onset in this young child. | Martina Galatola Erasmo Miele Caterina Strisciuglio Lorella Paparo Daniela Rega Paolo Delrio Francesca Duraturo Massimo Martinelli Giovanni Battista Rossi Annamaria Staiano Paola Izzo Marina De Rosa | 2013 | World Journal of Gastroenterology2013，19，46： | 7 |
| 2 | Genetics, diagnosis and management of colorectal cancer (Review)显示文摘 | Marina De Rosa Ugo Pace Daniela Rega Valeria Costabile Francesca Duraturo Paola Izzo Paolo Delrio | 2015 | Oncology Reports2015，，： | 1 |
| 3 | Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript显示文摘 | Marina De Rosa Gemma Morelli Elena Cesaro Francesca Duraturo Mimmo Turano Giovanni B. Rossi Paolo Delrio Paola Izzo | 2007 | Gene2007，，1： | 1 |
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