Abstract:
AIM:To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease. METHODS:The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistochemistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability. The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes. RESULTS:Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2, and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp-->Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation. CONCLUSION:The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. In family members where the exon 7 mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.
journal_name
World J Gastroenteroljournal_title
World journal of gastroenterologyauthors
Tanyi M,Olasz J,Lukács G,Csuka O,Tóth L,Szentirmay Z,Ress Z,Barta Z,Tanyi JL,Damjanovich Ldoi
10.3748/wjg.v12.i8.1192keywords:
subject
Has Abstractpub_date
2006-02-28 00:00:00pages
1192-7issue
8eissn
1007-9327issn
2219-2840journal_volume
12pub_type
杂志文章abstract:AIM:To evaluate the proinflammatory effects and molecular mechanisms of interleukin (IL)-17 in intestinal epithelial cell line HT-29. METHODS:HT-29 cells were cultured with IL-17, tumor necrosis factor (TNF)-α, or the combination of both IL-17 and TNF-α. Real-time PCR and Western blot were used to measure the gene exp...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v20.i47.17924
更新日期:2014-12-21 00:00:00
abstract::Celiac disease is an immune-mediated disorder that causes severe architectural disturbance in the small intestinal mucosa of genetically-predisposed individuals. Impaired absorption of multiple nutrients results and diarrhea and weight loss develop. Evidence has accumulated that a strict gluten-free diet can result in...
journal_title:World journal of gastroenterology
pub_type: 社论
doi:10.3748/wjg.v23.i15.2635
更新日期:2017-04-21 00:00:00
abstract::The progressive loss of efficacy of standard eradication therapies has made the treatment of Helicobacter pylori (H. pylori) more challenging than ever. Endoscopic-guided antibiotic susceptibility testing had previously been suggested to guide treatment after failure of second-line therapies. However, its role has exp...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i18.5205
更新日期:2014-05-14 00:00:00
abstract::Although antagonists of tumor necrosis factor have resulted in major therapeutic benefits in inflammatory bowel disease, the magnitude and durability of response are variable. Similar to previously available drugs such as 5-aminosalicylates and immunomodulators, the therapeutic effect is not universal leaving many peo...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i5.1139
更新日期:2014-02-07 00:00:00
abstract::Mother-to-child transmission of hepatitis B virus (HBV) is among the most important causes of chronic HBV infection and is the commonest mode of transmission worldwide. Currently, the presence of HBsAg, HBeAg and HBV DNA in breast milk is confirmed. Several studies have reported that breastfeeding carries no additiona...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v16.i40.5042
更新日期:2010-10-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v18.i44.6510
更新日期:2012-11-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 社论
doi:10.3748/wjg.v21.i34.9833
更新日期:2015-09-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v10.i11.1639
更新日期:2004-06-01 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v21.i16.4875
更新日期:2015-04-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v20.i4.1067
更新日期:2014-01-28 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v21.i3.759
更新日期:2015-01-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v20.i34.11950
更新日期:2014-09-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.15.3631
更新日期:2009-08-07 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
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更新日期:2014-05-07 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v24.i23.2491
更新日期:2018-06-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.15.4907
更新日期:2009-10-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,随机对照试验
doi:10.3748/wjg.v17.i18.2338
更新日期:2011-05-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v21.i26.8089
更新日期:2015-07-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v8.i5.956
更新日期:2002-10-01 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v26.i25.3611
更新日期:2020-07-07 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v10.i24.3674
更新日期:2004-12-15 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v21.i2.453
更新日期:2015-01-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3748/wjg.v22.i9.2711
更新日期:2016-03-07 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v11.i35.5480
更新日期:2005-09-21 00:00:00
abstract::Study of the effects of natural products, including traditional Chinese Medicines, on acetaminophen hepatotoxicity has gained considerable popularity in recent years, and some of them showed positive results and even promising therapeutic potentials. A recent report suggested that Liuweiwuling tablets protect against ...
journal_title:World journal of gastroenterology
pub_type: 评论,信件
doi:10.3748/wjg.v22.i11.3302
更新日期:2016-03-21 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v20.i2.518
更新日期:2014-01-14 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v10.i8.1171
更新日期:2004-04-15 00:00:00
abstract:AIM:To evaluate the significance of hsp90alpha expression in human gastric cancer tissues. METHODS:Immunohistochemical staining was used in clinical specimens from 33 cases of gastric cancer and 33 cases of gastritis with rabbit anti-human hsp90alpha multi-clonal antibody in order to explore the relationship between t...
journal_title:World journal of gastroenterology
pub_type: 杂志文章
doi:10.3748/wjg.v9.i11.2616
更新日期:2003-11-01 00:00:00
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journal_title:World journal of gastroenterology
pub_type: 社论,评审
doi:10.3748/wjg.14.4434
更新日期:2008-07-28 00:00:00
abstract::Hepatitis B virus (HBV) infection is still the most common cause of hepatocellular carcinoma and liver cirrhosis world wide. Recently, however, there has been quite dramatic improvement in the understanding of HBV associated liver disease and its treatment. It has become clear that high viral replication is a major ri...
journal_title:World journal of gastroenterology
pub_type: 杂志文章,评审
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更新日期:2007-01-07 00:00:00