Abstract:
BACKGROUND & AIMS:Germline mutations in one of four mismatch repair genes have been found in the majority of families with hereditary nonpolyposis colorectal cancer (HNPCC), but only in a small part of families with atypical HNPCC. The recently cloned EXO1 gene might be involved in the pathogenesis of HNPCC because the EXO1 protein strongly interacts with the MSH2 protein. To determine its role in HNPCC, EXO1 was scanned for germline mutations. METHODS:All 14 exons of EXO1 were scanned for mutations in index patients from 33 families with HNPCC fulfilling the Amsterdam criteria and in 225 index patients suspected of HNPCC. RESULTS:Germline variants of EXO1 were detected in 14 patients, including one splice-site mutation in a family with HNPCC and 13 missense mutations in patients with atypical HNPCC. These variants did not occur in more than 200 control individuals. From 13 of these 14 patients, tumors were available for analysis of microsatellite instability and loss of heterozygosity. Six of the tumors showed microsatellite instability. Heterozygosity analysis showed one case without EXO1 allelic loss and 12 tumors with loss of the mutant allele and retention of the normal one. CONCLUSIONS:The results indicate a possible association of germline EXO1 variants with HNPCC and atypical HNPCC.
journal_name
Gastroenterologyjournal_title
Gastroenterologyauthors
Wu Y,Berends MJ,Post JG,Mensink RG,Verlind E,Van Der Sluis T,Kempinga C,Sijmons RH,van der Zee AG,Hollema H,Kleibeuker JH,Buys CH,Hofstra RMdoi
10.1053/gast.2001.25117keywords:
subject
Has Abstractpub_date
2001-06-01 00:00:00pages
1580-7issue
7eissn
0016-5085issn
1528-0012pii
S0016-5085(01)94472-5journal_volume
120pub_type
杂志文章相关文献
GASTROENTEROLOGY文献大全abstract::One hundred symptomatic patients with radiolucent gallbladder stones were treated with a new piezoelectric lithotripter and oral chemolitholytic agents. Stone disintegration was achieved in 99 of these patients (99%) with a mean (+/- SD) maximum fragment size of 5.1 +/- 4.1 mm. Significant differences were found when ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(90)91173-4
更新日期:1990-11-01 00:00:00
abstract::Impairment of the mucosal microcirculation may contribute to ethanol-induced gastric mucosal damage. In this report, we describe diffuse and severe ultrastructural damage to the capillaries of the gastric glandular mucosa of the rat that occurred within 1 min after intragastric instillation of 100% ethanol. There was ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(87)90834-1
更新日期:1987-01-01 00:00:00
abstract::Two female adolescents with cystic fibrosis were investigated by endoscopic retrograde cholangiography for recurrent abdominal pain. The cholangiogram of 1 patient demonstrated multiple irregular filling defects throughout the biliary tree representing thickened bile and mucus as well as stones. The cholangiogram of t...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1983-06-01 00:00:00
abstract::Celiac sprue and Crohn's disease have very rarely been documented in the same patient. We report a case involving an adolescent male with known Crohn's disease who had extreme wasting, growth retardation, intractable diarrhea, and delay in development of secondary sexual characteristics. Peroral jejunal biopsy showed ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1977-04-01 00:00:00
abstract::The courses of 38 patients with severe, uncomplicated acute colitis (16 with Crohn's colitis and 22 with ulcerative colitis) were analyzed retrospectively. The patients were placed on total parenteral nutrition and treated concomitantly with corticosteroids, antibiotics (often metronidazole), sulfasalazine, and/or aza...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(90)90470-l
更新日期:1990-12-01 00:00:00
abstract::An in vitro fecal incubation system was used to demonstrate how lactulose influences ammonia metabolism in the colon. Lactulose and other fermentable substrates (glucose, mannitol, and sorbitol), pH and organic acid were varied independently so that their different effects could be determined. Fermentable substrate ca...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1978-03-01 00:00:00
abstract:BACKGROUND/AIMS:Reflex relaxation is a mechanism whereby the colon can show short-term dilatation in the absence of mechanical obstruction. This study investigated the tonic response of the canine colon to ileal distention and its pharmacological control. METHODS:In four dogs, the tone of the proximal colon was record...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(94)90692-0
更新日期:1994-03-01 00:00:00
abstract:BACKGROUND & AIMS:Activating transcription factor 6 (ATF6) regulates endoplasmic reticulum stress. We studied whether ATF6 contributes to the development of colorectal cancer (CRC) using tissue from patients and transgenic mice. METHODS:We analyzed data from 541 patients with CRC in The Cancer Genome Atlas database fo...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2018.07.028
更新日期:2018-11-01 00:00:00
abstract::Approximately 5% of the world's human population have an increased risk for developing liver cancer and cirrhosis as a direct consequence of chronic infection with the hepatitis B virus (HBV). Antiviral chemotherapy remains the only option for controlling infection in these individuals, for whom the current licensed h...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1016/s0016-5085(00)70008-4
更新日期:2000-02-01 00:00:00
abstract::We describe a 47-year-old patient who developed cholelithiasis in adolescence, followed by recurrent intrahepatic cholestasis of pregnancy, and finally biliary cirrhosis in adulthood. In our patient, the consecutive presentation of the 3 mentioned disorders raised the suspicion of a defect of MDR3, the canalicular pro...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.2003.50144
更新日期:2003-04-01 00:00:00
abstract::There is considerable evidence that fluids are removed from the peritoneal cavity by drainage into lymphatics lining the surface of the diaphragm, but there is little quantitative information on the rate of reabsorption as affected by conditions which exist in cirrhotic ascites. In the present study a plethysmographic...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract::We studied the appearance of specific secretory immunoglobulin A (IgA) antibody in bile after inoculation of live Giardia lamblia trophozoites into rat intestine. Serial bile specimens collected before and after inoculation of trophozoites were assayed for IgA antibodies by indirect immunofluorescence. Secretory IgA a...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1984-11-01 00:00:00
abstract:BACKGROUND & AIMS:Point mutations of the Ki-ras gene at codon 12 have been frequently identified in pure pancreatic juice of patients with pancreatic cancer in studies examining pancreatic cancer tissues. The aim of this study was to examine mutations of the Ki-ras codon 12 in the duodenal juice collected from patients...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.1996.v110.pm8536860
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND & AIMS:Foxl1(+) hepatic progenitor cells (HPCs) differentiate into cholangiocytes and hepatocytes after liver injury. We investigated the requirement for Foxl1(+) HPCs in recovery from liver injury in mice. METHODS:We developed mice in which we could trace and delete Foxl1-expressing HPCs and their descenda...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2014.09.039
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND & AIMS:Calcitonin gene-related peptide (CGRP) protects the gastric mucosa against injurious stimuli in various experimental models. The underlying mechanism could be the increase in gastric mucosal blood flow (GMBF). A number of endogenous vasodilators exert their effects through the activation of adenosine ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(98)70634-1
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND & AIMS:Visceral hypersensitivity plays a major role in the pathophysiology of inflammatory bowel syndrome (IBS). Opioid kappa receptors on afferent nerves may modulate it and may be the target of new IBS treatments. The aim of this study was to evaluate the effects of fedotozine, a potent and selective kappa...
journal_title:Gastroenterology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0016-5085(99)70226-x
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND & AIMS:Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2018.03.040
更新日期:2018-07-01 00:00:00
abstract::The range of activity and the location of lipase and pepsin were determined in the stomach and duodenum of infants, children, and adults. The range of lipase activity in biopsy specimens from the gastric body, in 29 subjects aged from 3 months to 26 years, was 1.8-5.3 U/mg protein (1 U is 1 mumol [3H]oleic acid releas...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(91)90467-y
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND & AIMS:Gastroesophageal reflux typically occurs after meals. During dual gastric and esophageal pH monitoring, we observed that postprandial refluxate was often more acidic than the gastric contents. This study aimed to investigate this phenomenon. METHODS:Dual gastric and esophageal pH tracings were analyz...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.2001.27997
更新日期:2001-10-01 00:00:00
abstract:BACKGROUND & AIMS:Patients with cirrhosis are characterized by a reduced splanchnic vascular resistance and a hyporeactivity to adrenergic vasoconstrictors. So far, their adrenergic splanchnic vascular responsiveness has not been evaluated in vitro. We compared responses to alpha1- and beta2-adrenoceptor stimulation of...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(99)70136-8
更新日期:1999-02-01 00:00:00
abstract::To define a potential role for the angiotensin system in Crohn's colitis, the colonic mucosal levels of angiotensin I and II were measured in endoscopic biopsy samples from patients with active Crohn's colitis (n = 20), ulcerative colitis (n = 13), other forms of colitis (n = 3), and normal controls (n = 17). Colonic ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(90)91088-n
更新日期:1990-06-01 00:00:00
abstract:BACKGROUND & AIMS:Helicobacter pylori is believed to predispose to gastric cancer by inducing gastric atrophy and hypochlorhydria. First-degree relatives of patients with gastric cancer have an increased risk of developing gastric cancer. The aim of this study was to determine the prevalence of atrophy and hypochlorhyd...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(00)70410-0
更新日期:2000-01-01 00:00:00
abstract::In seven healthy volunteers pure pancreatic juice was obtained by endoscopic cannulation of the papilla of Vater. Synthetic secretin was intravenously infused in doses doubled every 20 min. The volume of pancreatic juice was proportional to the log of the secretin dose. A significant rise (P less than 0.05) in pancrea...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1976-04-01 00:00:00
abstract:BACKGROUND & AIMS:Improving methods for early detection of gastric cancer could reduce mortality. Measurements of serum pepsinogen levels have been used for screening in Japan without satisfactory levels of sensitivity or specificity. Trefoil factor family (TFF) proteins (TFF1, TFF2, and TFF3) are small and stable mole...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2011.05.040
更新日期:2011-09-01 00:00:00
abstract::Both high-resolution manometry (HRM) and impedance-pH/manometry monitoring have established themselves as research tools and both are now emerging in the clinical arena. Solid-state HRM capable of simultaneously monitoring the entire pressure profile from the pharynx to the stomach along with pressure topography plott...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1053/j.gastro.2008.05.048
更新日期:2008-09-01 00:00:00
abstract::A numerically important group of patients with functional gastrointestinal disorders have chronic symptoms that can be attributed to the gastroduodenal region. Based on the consensus opinion of an international panel of clinical investigators who reviewed the available evidence, a classification of the functional gast...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1053/j.gastro.2005.11.059
更新日期:2006-04-01 00:00:00
abstract:BACKGROUND & AIMS:Krüppel-like factor 5 (KLF5) is a transcription factor that promotes proliferation, is highly expressed in dividing crypt cells of the gastrointestinal epithelium, and is induced by various stress stimuli. We sought to determine the role of KLF5 in colonic inflammation and recovery by studying mice wi...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2010.10.061
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND/AIMS:Helicobacter felis colonizes the gastric mucosa of rodents. Preliminary studies showed differences in the distribution of the organism in different parts of the stomach that seemed related to the secretory capacity of the mucosa. The aim of this study was to determine the localization of H. felis in the...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(95)90686-x
更新日期:1995-05-01 00:00:00
abstract::The hemodynamic effects of octreotide were studied in 20 patients with hepatitis B-related cirrhosis. In patients receiving a 100-micrograms bolus and a 100-micrograms/h infusion, heart rate, cardiac index, and systemic vascular resistance showed no significant changes, whereas right atrial pressure, pulmonary capilla...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(92)91117-m
更新日期:1992-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Prolonged lamivudine therapy is associated with treatment-resistant YMDD mutant hepatitis B virus (HBV). We evaluated the efficacy and safety of adding adefovir dipivoxil to lamivudine in 135 patients with chronic hepatitis B (CHB) and YMDD mutant HBV. METHODS:Ninety-five patients with compensated ...
journal_title:Gastroenterology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1053/j.gastro.2003.10.050
更新日期:2004-01-01 00:00:00