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| 1 | S-Adenosylhomocysteine induces apoptosis and phosphatidylserine exposure in endothelialcells independent of homocysteine显示文摘 | Sipkens JA Hahn NE Blom H J | 2012 | Atherosclerosis2012，221，1： | 1 |
| 2 | 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 |
| 3 | Interstitial photodynamic therapy for prostate cancer: a developing modality显示文摘 | Martin NE Hahn SM | 2004 | Photodiagnosis and Photodynamic Therapy2004，1，： | 1 |
| 4 | NOX2 p22phox and p47phox are targeted to the nuclear pore comple in ischemic cardiomyocytes colocalizing wilh local reactive Oxygen species显示文摘 | Hahn NE Meischl C Wijnker PJ | 2011 | Cell Physiol Biochem2011，27，5： | 1 |
| 5 | Vacuum-cleaner noise and acute stress responses in female C57BL/6 mice (Mus musculus)显示文摘 | Jensen K Hahn NE Palme R | 2010 | J Am Assoc Lab Anim Sci2010，49，3： | 1 |
| 6 | S-Adenosylhomo- cysteine induces apoptosis and phosphatidylserine expo- sure in endothelial cells independent of homocysteine显示文摘 | Sipkens JA Hahn NE Blom H J | 2012 | Atherosclerosis2012，221，1： | 1 |
| 7 | 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 |
| 8 | Vacuum-cleaner noise and a- cute stress responses in female C57BL/6 mice (Musmusculus) 显示文摘 | Jensen K Hahn NE Palme R | 2010 | J Am Assoc Lab Anita Sci2010，49，3： | 1 |
| 9 | S-Adenosylhomoeysteine induces apoptosis and phosphatidylserine exposure in endothelial cells independent of homocysteine显示文摘 | Sipkens JA Hahn NE Blom HJ | 2012 | Atheroscterosis2012，221，1： | 1 |
| 10 | Clinical economics reviews:irritable bowel syndrome显示文摘 | Wells NE Hahn BA Whorwell PJ | 1997 | Aliment Pharmacol Ther1997，11，6： | 1 |
| 11 | Living high- training low increases hypoxic ventilatory response of well- trained endurance athletes 显示文摘 | Townsend NE Gore CJ Hahn AG | 2002 | J Appl Physiol2002，93，4： | 1 |
| 12 | Successful treatment ofcryptosporidiosis in 2 common marmosets(Ca//iY/ira: jacchus)by using paromomycin显示文摘 | Hahn NE Capuano SV | 2010 | J Am Assoc Lab Anim Sci2010，49，6： | 1 |
| 13 | Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine:a crucial role for nuclear p47(phox)显示文摘 | Sipkens JA Krijnen PA Hahn NE | | 0，，1： | 1 |
| 14 | Hypoxic ventilatory re- sponse is correlated with increased submaximal exercise ventilation after live high, train low显示文摘 | Townsend NE Gore CJ Hahn AG | 2005 | Eur J Appl Physiol2005，94，12： | 1 |
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