Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.

Abstract:

AIM:To investigate the genetic relationship between Hirschsprung's disease (HD) and intestinal neuronal dysplasia (IND) in Chinese population. METHODS:Peripheral blood samples were obtained from 30 HD patients, 20 IND patients, 18 HD/IND combined patients and 20 normal individuals as control. Genomic DNA was extracted according to standard procedure. Exons 11,13,15,17 of RET proto-oncogene were amplified by polymerase chain reaction (PCR). The mutations of RET proto-oncogene were analyzed by single strand conformational polymorphism (SSCP) and sequencing of the positive amplified products was performed. RESULTS:Eight germline sequence variants were detected. In HD patients, 2 missense mutations in exon 11 at nucleotide 15165 G-->A (G667S), 2 frameshift mutations in exon 13 at nucleotide 18974 (18974insG), 1 missense mutation in exon 13 at nucleotide 18919 A-->G (K756E) and 1 silent mutation in exon 15 at nucleotide 20692 G-->A(Q916Q) were detected. In HD/IND combined patients, 1 missense mutation in exon 11 at nucleotide 15165 G-->A and 1 silent mutation in exon 13 at nucleotide 18888 T-->G (L745L) were detected. No mutation was found in IND patients and controls. CONCLUSION:Mutation of RET proto-oncogene is involved in the etiopathogenesis of HD. The frequency of RET proto-oncogene mutation is quite different between IND and HD in Chinese population. IND is a distinct clinical entity genetically different from HD.

journal_name

World J Gastroenterol

authors

Tou JF,Li MJ,Guan T,Li JC,Zhu XK,Feng ZG

doi

10.3748/wjg.v12.i7.1136

keywords:

subject

Has Abstract

pub_date

2006-02-21 00:00:00

pages

1136-9

issue

7

eissn

1007-9327

issn

2219-2840

journal_volume

12

pub_type

杂志文章
  • Genetic association of autoimmune hepatitis and human leucocyte antigen in German patients.

    abstract:AIM:To report on our large German collective and updated data of 142 patients with autoimmune hepatitis (AIH) type 1. METHODS:Key investigations performed were liver biopsy, serum autoantibodies as well as serum markers such as IgG and elevated transaminases. Antinuclear antigen (ANA) and smooth muscle antigen (SMA) a...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v12.i34.5513

    authors: Teufel A,Wörns M,Weinmann A,Centner C,Piendl A,Lohse AW,Galle PR,Kanzler S

    更新日期:2006-09-14 00:00:00

  • Examining pathogenic concepts of autoimmune hepatitis for cues to future investigations and interventions.

    abstract::Multiple pathogenic mechanisms have been implicated in autoimmune hepatitis, but they have not fully explained susceptibility, triggering events, and maintenance or escalation of the disease. Furthermore, they have not identified a critical defect that can be targeted. The goals of this review are to examine the diver...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v25.i45.6579

    authors: Czaja AJ

    更新日期:2019-12-07 00:00:00

  • Nicotine enhances migration and invasion of human esophageal squamous carcinoma cells which is inhibited by nimesulide.

    abstract:AIM:To study the effect of nicotine on the migration and invasion of human esophageal squamous carcinoma cells and to investigate whether nimesulide can inhibit the effect of nicotine. METHODS:The esophageal squamous carcinoma cell line (TE-13) was treated with different concentrations of nicotine (100 microg/mL and 2...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.15.2500

    authors: Zong Y,Zhang ST,Zhu ST

    更新日期:2009-05-28 00:00:00

  • Alterations of seminal and hormonal parameters: An extrahepatic manifestation of HCV infection?

    abstract:AIM:To evaluate the possible influences of HCV infection and relative antiviral treatment on seminal parameters and reproductive hormonal serum levels. METHODS:Ten male patients with HCV-related chronic hepatitis and 16 healthy male volunteers were studied. In all subjects seminal parameters (nemaspermic concentration...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v12.i19.3073

    authors: Durazzo M,Premoli A,Di Bisceglie C,Bertagna A,Faga E,Biroli G,Manieri C,Bo S,Pagano G

    更新日期:2006-05-21 00:00:00

  • Incidence and predictors of upper gastrointestinal bleeding in patients receiving low-dose aspirin for secondary prevention of cardiovascular events in patients with coronary artery disease.

    abstract:AIM:The use of low-dose aspirin to prevent cardiovascular disease events is well established. However, the incidence and predictors of upper gastrointestinal bleeding (UGIB) with its use are unknown. We studied prospectively the incidence and outcome of peptic ulceration in low-dose aspirin users. METHODS:A total of 9...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v12.i18.2923

    authors: Ng W,Wong WM,Chen WH,Tse HF,Lee PY,Lai KC,Li SW,Ng M,Lam KF,Cheng X,Lau CP

    更新日期:2006-05-14 00:00:00

  • Autoimmune pancreatitis: a review.

    abstract::Autoimmune pancreatitis has emerged over the last 40 years from a proposed concept to a well established and recognized entity. As an efficient mimicker of pancreatic carcinoma, its early and appropriate recognition are crucial. With mounting understanding of its pathogenesis and natural history, significant advances ...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v13.i47.6327

    authors: Zandieh I,Byrne MF

    更新日期:2007-12-21 00:00:00

  • Chronic pancreatitis as presentation of Crohn's disease in a child.

    abstract::It is reported that a pancreatic disease may precede the diagnosis of inflammatory bowel disease (IBD) both in children and in adults. Idiopathic chronic pancreatitis, however, occasionally co-exists with the IBD, mainly at pediatric age. We report a case of a patient who progressively developed the features of a chro...

    journal_title:World journal of gastroenterology

    pub_type: 信件

    doi:10.3748/wjg.v19.i31.5204

    authors: Knafelz D,Panetta F,Monti L,Bracci F,Papadatou B,Torre G,Dall'Oglio L,Diamanti A

    更新日期:2013-08-21 00:00:00

  • Budd-Chiari syndrome: diagnosis with three-dimensional contrast-enhanced magnetic resonance angiography.

    abstract:AIM:To evaluate the role of three-dimensional contrast-enhanced magnetic resonance angiography (3D CE MRA) in the diagnosis of Budd-Chiari syndrome (BCS). METHODS:Twenty-three patients with BCS underwent 3D CE MRA examination, in which 13 cases were secondary to either hepatocellular carcinoma (11 cases), right adrena...

    journal_title:World journal of gastroenterology

    pub_type: 临床试验,杂志文章

    doi:10.3748/wjg.v9.i10.2317

    authors: Lin J,Chen XH,Zhou KR,Chen ZW,Wang JH,Yan ZP,Wang P

    更新日期:2003-10-01 00:00:00

  • Hepatitis B and inflammatory bowel disease: role of antiviral prophylaxis.

    abstract::Hepatitis B virus (HBV) is a very common infection worldwide. Its reactivation in patients receiving immunosuppression has been widely described as being associated with significant morbidity and mortality unless anti-viral prophylaxis is administered. Treatment in inflammatory bowel disease (IBD) patients has changed...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v19.i9.1342

    authors: López-Serrano P,Pérez-Calle JL,Sánchez-Tembleque MD

    更新日期:2013-03-07 00:00:00

  • p53-expressing conditionally replicative adenovirus CNHK500-p53 against hepatocellular carcinoma in vitro.

    abstract:AIM:To develop a conditionally replicative gene-viral vector system called CNHK500-p53, which contains dual promoters within the E1 region, and combines the advantages of oncolytic virus and gene therapies for hepatocellular carcinoma (HCC). METHODS:CNHK500-p53 was constructed by using human telomerase reverse transcr...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v13.i5.683

    authors: Zhao HC,Zhang Q,Yang Y,Lu MQ,Li H,Xu C,Chen GH

    更新日期:2007-02-07 00:00:00

  • Analysis of gene expression profile of pancreatic carcinoma using cDNA microarray.

    abstract:AIM:To identify new diagnostic markers and drug targets, the gene expression profiles of pancreatic cancer were compared with that of adjacent normal tissues utilizing cDNA microarray analysis. METHODS:cDNA probes were prepared by labeling mRNA from samples of six pancreatic carcinoma tissues with Cy5-dUTP and mRNA fr...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v9.i4.818

    authors: Tan ZJ,Hu XG,Cao GS,Tang Y

    更新日期:2003-04-01 00:00:00

  • Incidence and risk factors for infantile colic in Iranian infants.

    abstract:AIM:To assess the incidence of infantile colic and its association with variable predictors in infants born in a community maternity hospital, Tehran, Iran. METHODS:In this prospective cohort study, mothers who gave birth to live newborns between February 21 and March 20, 2003 at the hospital were invited to join to t...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.14.4662

    authors: Talachian E,Bidari A,Rezaie MH

    更新日期:2008-08-07 00:00:00

  • Missed diagnosis of early gastric cancer or high-grade intraepithelial neoplasia.

    abstract:AIM:To investigate the causes of missed diagnosis of early gastric cancer (EGC) or high-grade intraepithelial neoplasia (HGIN) in Chongqing, China. METHODS:The present study summarizes 103 cases of EGC/HGIN detected by esophagogastroduodenoscopy (EGD) and pathological analysis from January 2010 to December 2011. Dimet...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v19.i13.2092

    authors: Ren W,Yu J,Zhang ZM,Song YK,Li YH,Wang L

    更新日期:2013-04-07 00:00:00

  • Effects of tetrandrine on gastric mucosa and liver in portal hypertensive rats.

    abstract:AIM:To study the effects of tetrandrine on portal hypertensive gastric mucosal lesions. METHODS:Portal hypertensive models were induced in Wistar rats by 60% CCl4 3 mL/kg body weight through subcutaneous injection, once every 4 d for 56 d. The animals were randomly divided into portal hypertension, tetrandrine and pro...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v3.i3.192

    authors: Mu Y,Shen YZ,Chu YF

    更新日期:1997-09-15 00:00:00

  • Primary epithelial tumours of the appendix in a black population: a review of cases.

    abstract:AIM:To determine the prevalence, histologic types and clinical features of primary epithelial tumours of the vermiform appendix in a predominantly black population. METHODS:All cases of primary tumours of the appendix identified by review of the histopathology records at the University of the West Indies between Janua...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.15.1472

    authors: Graham RP,Williams NP,West KA

    更新日期:2009-03-28 00:00:00

  • Autoimmune hepatitis, one disease with many faces: etiopathogenetic, clinico-laboratory and histological characteristics.

    abstract::Autoimmune hepatitis (AIH) is an unresolving progressive liver disease of unknown etiology characterized by hypergammaglobulinemia, autoantibodies detection and interface hepatitis. Due to the absence of specific diagnostic markers and the large heterogeneity of its clinical, laboratory and histological features, AIH ...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v21.i1.60

    authors: Gatselis NK,Zachou K,Koukoulis GK,Dalekos GN

    更新日期:2015-01-07 00:00:00

  • Comparison of protocatechuic aldchyde in Radix Salvia miltiorrhiza and corresponding pharmacological sera from normal and fibrotic rats by high performance liquid chromatography.

    abstract:AIM:To observe the effect of protocatechuic aldchyde on the proliferation of hepatic stellate cells (HSCs). METHODS:Liver fibrosis was induced in rats by carbon tetrachloride (CCl4). Then normal and fibrotic drug sera were extracted from rats. The effects of protocatechuic aldchyde, raw Radix Salvia miltiorrhiza and d...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v12.i14.2195

    authors: Lv T,Yao XX

    更新日期:2006-04-14 00:00:00

  • Aspirin increases susceptibility of Helicobacter pylori to metronidazole by augmenting endocellular concentrations of antimicrobials.

    abstract:AIM:To investigate the mechanisms of aspirin increasing the susceptibility of Helicobacter pylori (H pylori) to metronidazole. METHODS:H pylori reference strain 26695 and two metronidazole-resistant isolates of H pylori were included in this study. Strains were incubated in Brucella broth with or without aspirin (1 mm...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.15.919

    authors: Zhang XP,Wang WH,Tian Y,Gao W,Li J

    更新日期:2009-02-28 00:00:00

  • Management of patients with sphincter of Oddi dysfunction based on a new classification.

    abstract:AIM:To propose a new classification system for sphincter of Oddi dysfunction (SOD) based on clinical data of patients. METHODS:The clinical data of 305 SOD patients documented over the past decade at our center were analyzed retrospectively, and typical cases were reported. RESULTS:The new classification with two mor...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v17.i3.385

    authors: Gong JQ,Ren JD,Tian FZ,Jiang R,Tang LJ,Pang Y

    更新日期:2011-01-21 00:00:00

  • Anticancer effect of linalool via cancer-specific hydroxyl radical generation in human colon cancer.

    abstract:AIM:To investigate the anticancer mechanisms of the monoterpenoid alcohol linalool in human colon cancer cells. METHODS:The cytotoxic effect of linalool on the human colon cancer cell lines and a human fibroblast cell line was examined using the WST-8 assay. The apoptosis-inducing effect of linalool was measured using...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v22.i44.9765

    authors: Iwasaki K,Zheng YW,Murata S,Ito H,Nakayama K,Kurokawa T,Sano N,Nowatari T,Villareal MO,Nagano YN,Isoda H,Matsui H,Ohkohchi N

    更新日期:2016-11-28 00:00:00

  • New botanical drug, HL tablet, reduces hepatic fat as measured by magnetic resonance spectroscopy in patients with nonalcoholic fatty liver disease: A placebo-controlled, randomized, phase II trial.

    abstract:AIM:To evaluate the efficacy and safety of HL tablet extracted from magnolia officinalis for treating patients with nonalcoholic fatty liver disease (NAFLD). METHODS:Seventy-four patients with NAFLD diagnosed by ultrasonography were randomly assigned to 3 groups given high dose (400 mg) HL tablet, low dose (133.4 mg) ...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,随机对照试验

    doi:10.3748/wjg.v23.i32.5977

    authors: Jeong JY,Sohn JH,Baek YH,Cho YK,Kim Y,Kim H

    更新日期:2017-08-28 00:00:00

  • Multidrug-resistant bacterial infections after liver transplantation: an ever-growing challenge.

    abstract::Bacterial infections are a leading cause of morbidity and mortality among solid organ transplant recipients. Over the last two decades, various multidrug-resistant (MDR) pathogens have emerged as relevant causes of infection in this population. Although this fact reflects the spread of MDR pathogens in health care fac...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v20.i20.6201

    authors: Santoro-Lopes G,de Gouvêa EF

    更新日期:2014-05-28 00:00:00

  • Targeted medical therapy of biliary tract cancer: recent advances and future perspectives.

    abstract::The limited efficacy of cytotoxic therapy for advanced biliary tract and gallbladder cancers emphasizes the need for novel and more effective medical treatment options. A better understanding of the specific biological features of these neoplasms led to the development of new targeted therapies, which take the abundan...

    journal_title:World journal of gastroenterology

    pub_type: 社论,评审

    doi:10.3748/wjg.14.7021

    authors: Hopfner M,Schuppan D,Scherubl H

    更新日期:2008-12-14 00:00:00

  • Lower folate levels in gastric cancer: is it a cause or a result?

    abstract::Folate deficiency and its association with cancer have been studied in the literature, but its clinical impact is still unknown. Folate deficiency and its result on gastric cancer is a mysterious part of oncology, with ongoing studies hopefully clarifying its impact on gastric cancer management. Lee et al studied fola...

    journal_title:World journal of gastroenterology

    pub_type: 评论,信件

    doi:10.3748/wjg.v21.i13.4101

    authors: Alkan A,Mızrak D,Utkan G

    更新日期:2015-04-07 00:00:00

  • New horizons in the endoscopic ultrasonography-based diagnosis of pancreatic cystic lesions.

    abstract::Pancreatic cystic lesions (PCLs) are increasingly being identified because of the widespread use of high-resolution abdominal imaging. These cysts encompass a spectrum from malignant disease to benign lesions, and therefore, accurate diagnosis is crucial to determine the best management strategy, either surgical resec...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v24.i26.2853

    authors: Alvarez-Sánchez MV,Napoléon B

    更新日期:2018-07-14 00:00:00

  • Jaundice associated pruritis: a review of pathophysiology and treatment.

    abstract::To review the underlying pathophysiology and currently available treatments for pruritis associated with jaundice. English language literature was reviewed using MEDLINE, PubMed, EMBASE and clinicaltrials.gov for papers and trails addressing the pathophysiology and potential treatments for pruritis associated with jau...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v21.i5.1404

    authors: Bassari R,Koea JB

    更新日期:2015-02-07 00:00:00

  • Pancreatic acinar cell carcinoma: A review on molecular profiling of patient tumors.

    abstract::Pancreatic carcinomas with acinar differentiation are rare, accounting for 1%-2% of adult pancreatic tumors; they include pancreatic acinar cell carcinoma (PACC), pancreatoblastoma, and carcinomas of mixed differentiation. Patients with PACC have a prognosis better than pancreatic ductal adenocarcinomas but worse than...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v23.i45.7945

    authors: Al-Hader A,Al-Rohil RN,Han H,Von Hoff D

    更新日期:2017-12-07 00:00:00

  • Current and emerging pharmacological therapy for non-alcoholic fatty liver disease.

    abstract::The main treatment of patients with non-alcoholic fatty liver disease (NAFLD) is life style modification including weight reduction and dietary regimen. Majority of patients are safely treated with this management and pharmacologic interventions are not recommended. However, a subgroup of NAFLD patients with non-alcoh...

    journal_title:World journal of gastroenterology

    pub_type: 社论

    doi:10.3748/wjg.v23.i42.7495

    authors: Eshraghian A

    更新日期:2017-11-14 00:00:00

  • Left-sided gallbladder: its clinical significance and imaging presentations.

    abstract:AIM:To assess the importance of preoperative diagnosis and presentation of left-sided gallbladder using ultrasound (US), CT and angiography. METHODS:Retrospective review of 1482 patients who underwent enhanced CT scanning was performed. Left-sided gallbladder was diagnosed if a right-sided ligamentum teres was present...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v13.i47.6404

    authors: Hsu SL,Chen TY,Huang TL,Sun CK,Concejero AM,Tsang LL,Cheng YF

    更新日期:2007-12-21 00:00:00

  • Expression and location of Smad2, 4 mRNAs during and after liver fibrogenesis of rats.

    abstract:AIM:To investigate the location alteration of Smad2 and Smad4 mRNAs in the liver during and after fibrogenesis in rats. METHODS:Eighty male Wistar rats weighing approximately 200 g each were used. The rat models of experimental hepatic fibrosis were established by injection with carbon tetrachloride (CCl4), normal rat...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v12.i10.1577

    authors: Liu Y,Wang LF,Zou HF,Song XY,Xu HF,Lin P,Zheng HH,Yu XG

    更新日期:2006-03-14 00:00:00