|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases显示文摘AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC cases.METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of age.Genomic DNA from blood was enriched for exome sequences using the Sure Select Human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 platform.Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.RESULTS: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.In 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as pathogenic.Inthe remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating mutations.One previously unreported variant identified in a conserved region of EIF2AK4(p.Glu738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes. | Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel | 2015 | World Journal of Gastroenterology2015，21，14： | 1 |
| 2 | Anticoagulation with warfarin in vitreoretinal surgery显示文摘 | Fu AD McDonald HR Williams DF Cantrill HL Ryan EH Jr Johnson RN | 2007 | Retina2007，27，3： | 1 |
| 3 | Ocular Barnella infections显示文摘 | Roe RH Jumper JM Fu AD | 2008 | Int Ophthalmol Clin2008，48，3： | 1 |
| 4 | Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer显示文摘 | Richarda M. de Voer Ad Geurts van Kessel Robbert D.A. Weren Marjolijn J.L. Ligtenberg Dominique Smeets Lei Fu Lilian Vreede Eveline J. Kamping Eugène T.P. Verwiel Marc-Manuel Hahn Maayke Ariaans Liesbeth Spruijt Ton van Essen Gunnar Houge Hans K. Schacker | 2013 | Gastroenterology2013，，： | 1 |
| 5 | The clinical management of diabetic retinopathy显示文摘 | Fu AD | 2004 | AdVanced Studies in Medicine2004，4，9： | 1 |
| 6 | Abuse of antibiotics in China and its potential interference in determining the etiology of pediatric bacterial diseases 显示文摘 | Yang YH Fu SG Peng H Shen AD Yue SJ Go YF | 1993 | Pediatr Infect Dis J1993，12，12： | 1 |
| 7 | Glutnmine alimentation in catabolic state显示文摘 | Boelens PG Nijveldt fU Houdijk AP d ad | 2001 | J Nuh2001，131，9： | 1 |
| 8 | The natural history of pigment epithelial detachment associated with central serous chorioretinopathy 显示文摘 | Mudvari SS Goff MJ Fu AD McDonald HR Johnson RN Ai E Jumper JM | 2007 | Retina2007，27，9： | 1 |
| 9 | Super modules-based active QR codes for smart trackability and IoT:a responsive-banknotes case study显示文摘The general use of smartphones assigns additional relevance to QR codes as a privileged tool to the Internet of Things(IoT).Crucial for QR codes is the evolution to IoT-connected smart tags with enhanced storage capacity and secure accesses.Using the concept of super-modules(s-modules)built from adjacent spatial multiplexed modules with regular geometrical shapes,assisted by colour multiplexing,we modelled and design a single QR code with,at least,the triple storage capacity of an analogous size black/white QR code,acting as a smart-tag ensuring restrict access and trackability.The s-modules are printed using luminescent low-cost and eco-friendly inks based on organic-inorganic hybrids modified by lanthanides with multiplexed colour emission in the orthogonal RGB space.The access to the restrict information is attained only under UV irradiation and encrypted for secure transmission.The concept of active QR codes for smart trackability and IoT was materialised through the development of a free friendly-user mobile app. | João F.C.B.Ramalho Sandra F.H.Correia Lianshe Fu Lília M.S.Dias Pedro Adão Paulo Mateus Rute A.S.Ferreira Paulo S.André | 2020 | npj Flexible Electronics2020，4，1： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员