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| 1 | Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles显示文摘AIM:To evaluate the risk associated with variants of the UNC5C gene recently suspected to predispose to familial colorectal cancer(CRC).METHODS:We screened patients with familial CRC forms as well as patients with sporadic CRCs.In a first time,we analyzed exon 11 of the UNC5C gene in 120unrelated patients with suspected hereditary CRC,58patients with suspected Lynch-associated cancer or polyposis,and 132 index cases of Lynch syndrome families with a characterized mutation in a DNA mismatch repair(MMR).Next,1023 patients with sporadic CRC and1121 healthy individuals were screened for the variants identified in patients with familial cancer.RESULTS:Of 120 patients with familial CRC of unknown etiology,one carried the previously reported mis-sense mutation p.Arg603Cys(R603C)and another exhibited the unreported variant of unknown significance p.Thr617Ile(T617I).The p.Ala628Lys(A628K)mutation previously described as the main UNC5C risk variant for familial CRC was not detected in any cases of familial CRC of unknown etiology,but was present in a patient with familial gastric cancer and in two Lynch syndrome patients in co-occurrence with MMR mutations.A statistically non-significant increase in cancer risk was identified in familial CRC and/or other Lynchassociated cancers(1/178 patients vs 2/1121 healthy controls,OR=3.2,95%CI:0.29-35.05,P=0.348)and in sporadic CRCs(4/1023 patients vs 2/1121 healthy controls,OR=2.2,95%CI:0.40-12.02,P=0.364).CONCLUSION:We confirm that UNC5C mutations are very rare in familial and sporadic CRCs,but further investigations are needed to justify routine UNC5C testing for diagnostic purposes. | Sébastien Küry Céline Garrec Fabrice Airaud Flora Breheret Virginie Guibert Cécile Frenard Shuo Jiao Dominique Bonneau Pascaline Berthet Céline Bossard Olivier Ingster Estelle Cauchin Stéphane Bezieau | 2014 | World Journal of Gastroenterology2014，20，1： | 4 |
| 2 | Ageing affects chondroitin sulfates and their synthetic enzymes in the intervertebral disc显示文摘The depletion of chondroitin sulfates(CSs)within the intervertebral disc(IVD)during degenerative disc disease(DDD)results in a decrease in tissue hydration,a loss of fluid movement,cell apoptosis,a loss of nerve growth inhibition and ultimately,the loss of disc function.To date,little is known with regards to the structure and content of chondroitin sulfates(CSs)during IVD ageing.The behavior of glycosaminoglycans(GAGs),specifically CSs,as well as xylosyltransferase I(XT-I)and glucuronyltransferase I(GT-I),two key enzymes involved in CS synthesis as a primer of glycosaminoglycan(GAG)chain elongation and GAG synthesis in the nucleus pulposus(NP),respectively,were evaluated in a bovine ageing IVD model.Here,we showed significant changes in the composition of GAGs during the disc ageing process(6-month-old,2-year-old and 8-year-old IVDs representing the immature to mature skeleton).The CS quantity and composition of annulus fibrosus(AF)and NP were determined.The expression of both XT-I and GT-I was detected using immunohistochemistry.A significant decrease in GAGs was observed during the ageing process.CSs are affected at both the structural and quantitative levels with important changes in sulfation observed upon maturity,which correlated with a decrease in the expression of both XT-I and GT-I.A progressive switch of the sulfation profile was noted in both NP and AF tissues from 6 months to 8 years.These changes give an appreciation of the potential impact of CSs on the disc biology and the development of therapeutic approaches for disc regeneration and repair. | Estelle C Collin Oliver Carroll Michelle Kilcoyne Marianna Peroglio Eugene See Doris Hendig Mauro Alini Sibylle Grad Abhay Pandit | 2017 | Signal Transduction and Targeted Therapy2017，2，1： | 2 |
| 3 | Association with litter size of new polymorphisms on ESR1 and ESR2 genes in a Chinese-European pig line显示文摘 | MUNOZ G OVILO C ESTELL(E) J | 2007 | Genet Sel Evol2007，39，2： | 1 |
| 4 | Tumor cell-specific BRCA1 and RASSF1A hypermethylation in serum, plasma, and peritoneal fluid from ovarian cancer patients显示文摘 | Ibanez de Caceres I Battagli C Esteller M | 2004 | Cancer Res2004，64，18： | 1 |
| 5 | Physico-chemical processes in a vadose zone during the infiltration of treated wastewater used for irrigation: application of the NETPATH model显示文摘 | Esteller M V Morell I Almeida C | 2001 | Environmental Geology2001，，40： | 1 |
| 6 | Insensitivity to ethylene conferred by a dominant mutation in Arabidopsis thaliana显示文摘 | ESTELLE M A SOMERVILLE C | 1988 | Sc ience1988，241，： | 1 |
| 7 | Auxin-resistant mutants of Arabidopsis thaliana with an altered morphology显示文摘 | Estelle M A Somerville C R | 1987 | Mol Gen Genet1987，206，： | 1 |
| 8 | Insensitivity to ethylene conferred by a dominant mutation in Arabidopsis thaliana显示文摘 | Bleecker A B Estelle M A Somerville C | 1988 | Science1988，241，： | 1 |
| 9 | Arabidopsis ethylene-response gene ETRI: Similarity of product to two- component regulators显示文摘 | Bleecker A B Estelle M A Somerville C | 1998 | Science1998，241，： | 1 |
| 10 | Tumor cell-specific BRCA1 and RASSF1A hypermethylation in serum,plasma,and peritoneal fluid from ovarian cancer patients显示文摘 | de Caceres I Battagli C Esteller M | 2004 | Cancer Res2004，64，： | 1 |
| 11 | Shear Modulus and Damping Ratio of Grouted Sand 显示文摘 | ESTELLE D IRINI D M RICHARD C | 2004 | Soil Dynamics and Earthquake Engineering2004，，24： | 1 |
| 12 | Inactivation of the DNA repair gene O6methylguanineDNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia 显示文摘 | Esteller M Hamilton S R Burger P C | 1999 | Cancer Res1999，59，4： | 1 |
| 13 | Growth and develop- ment of the axrl mutants of Arabidopsis 显示文摘 | Lincoln C Britton J H Estelle M | 1990 | Plant Cell1990，2，： | 1 |
| 14 | Processing the coquette vis-cometry data using a Bingham approximation in shear rate calculation显示文摘 | Estell′e P Lanos C Perrot A | | 0，，01： | 1 |
| 15 | The calcium-sensing receptor is si- lenced by genetic and epigenetic mechanisms in unfavorable neuro- blastomas and its reactivation induces ERK1/2-dependent apoptosis 显示文摘 | Carla C Estel G Jos L | 2012 | Carcinogenesis2012，34，2： | 1 |
| 16 | DNA methylation markers for pros- tate cancer with a stem cell twist显示文摘 | Jer6nimo C Esteller M | 2010 | Cancer Prey Res( Phi- la)2010，3，9： | 1 |
| 17 | Quant-itative real-time reverse transcription-PCR assay forurokinase Plasminogen activator, Plasminogen activatorinhibitor tyPel ,and tissue metalloproteinase inhibitor type1 gene expressions in Primary breast cancer 显示文摘 | CASTELLO R ESTELLES A VAZQUEZ C | 2002 | ClinChem2002，48，8： | 1 |
| 18 | Shear modulus and damping ratio of grouted sand显示文摘 | ESTELLE D R IRINI D M RICHARD C | 2004 | Soil Dynamics and Earthquake Engineering2004，24，6： | 1 |
| 19 | Tumor cell-specific BRCA1 and RASSF1A hypermethylation in serum,plasma,and peritoneal fluid from ovarian cancer patients显示文摘 | Ibanez de Caceres I Battagli C Esteller M | 2004 | Cancer Res2004，64，18： | 1 |
| 20 | Microbial community structure and function in the spermosphere as affected by soil and seed type显示文摘 | Jeffery S B Daniel P R Estelle R C | 1999 | NRC Canada1999，45，： | 1 |
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