A De Novo mutation of STK11 gene in a Chinese patient with Peutz-Jeghers syndrome.

Abstract:

:Peutz-Jeghers syndrome (PJS) is an autosomal-dominant inherited disorder characterized by mucocutaneous pigmentation, hamartomatous polyposis of the gastrointestinal tract, and an increased risk for the development of both gastrointestinal and extraintestinal malignancies. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. We collected blood samples from a Chinese PJS family consisting of a total of four individuals (one male and three females) including one PJS patient. The whole coding region of STK11 was amplified by polymerase chain reaction and products analyzed by direct sequencing. Molecular analysis of the STK11 gene in this case of PJS revealed a substitution of thymine 217 for adenine (C.217T > A) in exon 1, resulting in a change of codon 73 from cysteine to serine (C73S). The point mutation was not found in normal individuals in this PJS family or in 100 control individuals. The results presented here enlarge the spectrum of mutations of the STK11 gene by identifying a de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS.

journal_name

Dig Dis Sci

authors

Gao Y,Zhang FM,Huang S,Wang X,Zhang P,Huang XD,Ji GZ,Fan ZN

doi

10.1007/s10620-009-0837-x

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

1032-6

issue

4

eissn

0163-2116

issn

1573-2568

journal_volume

55

pub_type

杂志文章
  • Asynchrony in circadian rhythms of gastric function in the rat. A model for gastric mucosal injury.

    abstract::A model for gastric mucosal injury is proposed in which a key pathogenetic event is the disruption in the normal relationships among several circadian rhythms of gastric function. In the rat a circadian rhythm in acid secretion was found to be out of phase with a circadian rhythm in gastric pepsin secretion, another a...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/BF02087766

    authors: Moore JG,Larsen KR,Barattini P,Dayton MT

    更新日期:1994-08-01 00:00:00

  • Association between proton pump inhibitor use and anemia: a retrospective cohort study.

    abstract:BACKGROUND:Proton pump inhibitors (PPIs) are widely prescribed to treat gastrointestinal diseases. However, concerns have been raised regarding their long-term use. Gastric acid suppression may decrease iron absorption, and it remains uncertain whether iron-deficiency anemia may result from chronic PPI therapy. AIMS:W...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-011-1589-y

    authors: Sarzynski E,Puttarajappa C,Xie Y,Grover M,Laird-Fick H

    更新日期:2011-08-01 00:00:00

  • Cyclic vomiting syndrome: in vitro nitric oxide and interleukin-6 release by esophageal and gastric mucosa.

    abstract::Cyclic vomiting syndrome is a disorder characterized by recurrent episodes of nausea and vomiting with complete resolution of symptoms between attacks. Nitric oxide plays a critical role in regulating several components of gastrointestinal mucosal defense and injury. Interleukin-6 has a wide variety of actions in the ...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1023/a:1010712703685

    authors: Zicari A,Corrado G,Pacchiarotti C,Lucarelli S,Frediani T,Cavaliere M,Porcelli M,Cardi E

    更新日期:2001-04-01 00:00:00

  • Nonalcoholic fatty liver disease increases risk for gastroesophageal reflux symptoms.

    abstract:BACKGROUND:Nonalcoholic fatty liver disease (NAFLD) is now recognized as a leading cause of liver dysfunction. Gastroesophageal reflux disease (GERD) is a common disorder causing symptoms that often impair patients' quality of life. In recent years, the prevalence of both these diseases has increased, partially overlap...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-014-3113-7

    authors: Catanzaro R,Calabrese F,Occhipinti S,Anzalone MG,Italia A,Milazzo M,Marotta F

    更新日期:2014-08-01 00:00:00

  • Coagulation protein function: enhancement of the anticoagulant effect of acetaldehyde by sulfated glycosaminoglycans.

    abstract::In view of the increased anticoagulant effect of acetaldehyde-treated heparin, other glycosaminoglycans (GAGs) such as chondroitin sulfates A and C, dermatan sulfate (chondroitin sulfate B), heparan sulfate, and hyaluronic acid were tested for anticoagulant activity before and after exposure to acetaldehyde. Clotting ...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1023/a:1010668005729

    authors: Brecher AS,Adamu MT

    更新日期:2001-09-01 00:00:00

  • Gut bacterial translocation contributes to microinflammation in experimental uremia.

    abstract:BACKGROUND:Microinflammation frequently develops in chronic uremia with pathological intestinal changes. However, the relationship between gut bacterial translocation and microinflammation in uremia has not been widely investigated. AIM:This study aimed to investigate whether gut microbiome dysbiosis and translocation...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-012-2242-0

    authors: Wang F,Zhang P,Jiang H,Cheng S

    更新日期:2012-11-01 00:00:00

  • Efficacy and safety of endoscopic papillary large balloon dilation for large bile duct stones in elderly patients.

    abstract:BACKGROUND:Minimally invasive interventions for choledocholithiasis are preferable in elderly patients because they tend to have multiple underlying disorders or a decreased activity of daily living. Endoscopic sphincterotomy and endoscopic papillary balloon dilation have been recognized as first-line treatments for ch...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-014-3156-9

    authors: Tonozuka R,Itoi T,Sofuni A,Itokawa F,Kurihara T,Tsuchiya T,Ishii K,Tsuji S,Ikeuchi N,Umeda J,Tanaka R,Honjyo M,Mukai S,Fujita M,Moriyasu F

    更新日期:2014-09-01 00:00:00

  • Blinded prospective comparison of the performance of 22-gauge and 25-gauge needles in endoscopic ultrasound-guided fine needle aspiration of the pancreas and peri-pancreatic lesions.

    abstract:BACKGROUND:Both 22- and 25-gauge needles are used for endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) of lesions, yet limited data exist on whether either offers an advantage over the other in terms of specimen cellularity and quality. AIM:The aim of this study was to compare sample quality for 22- and...

    journal_title:Digestive diseases and sciences

    pub_type: 临床试验,杂志文章

    doi:10.1007/s10620-009-0906-1

    authors: Lee JH,Stewart J,Ross WA,Anandasabapathy S,Xiao L,Staerkel G

    更新日期:2009-10-01 00:00:00

  • Randomized, single-blind, placebo-controlled multicenter trial to compare the efficacy and safety of metronidazole and satranidazole in patients with amebic liver abscess.

    abstract::The aims of our randomized, single-blind trial involving 49 patients were to study the efficacy, side effects, and tolerance of metronidazole and satranidazole in patients of amebic liver abscess. Twenty-five patients received metronidazole (800 mg TID) and 24 received satranidazole (300 mg TID with placebo at mealtim...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1007/s10620-006-9111-7

    authors: Muzaffar J,Madan K,Sharma MP,Kar P

    更新日期:2006-12-01 00:00:00

  • Efficacy of new playback functions at reducing small-bowel wireless capsule endoscopy reading times.

    abstract:INTRODUCTION:Interpretation of video capsule data is time-consuming. Olympus capsule endoscopy (CE) software systems are equipped with auto-speed-adjusted and express-selected playback modes and overview function in an effort to reduce reading times. The clinical efficacy of these new playback features is unknown. Our ...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-012-2074-y

    authors: Subramanian V,Mannath J,Telakis E,Ragunath K,Hawkey CJ

    更新日期:2012-06-01 00:00:00

  • New enema treatments for inflammatory bowel disease.

    abstract::Two new preparations are under clinical trial for use in the treatment of ulcerative proctitis and left-sided colitis. One is 5-aminosalicylate, a component of sulfasalazine. This substance has virtually no immunomodulating capabilities. Evidence for efficacy equal to that of sulfasalazine in acute colitis has been ob...

    journal_title:Digestive diseases and sciences

    pub_type: 临床试验,杂志文章

    doi:10.1007/BF01538136

    authors: Karp LC,Targan SR

    更新日期:1988-03-01 00:00:00

  • Hepatic damage in neonatal rat due to E. coli endotoxin.

    abstract::Liver from neonatal rats injected with LD50 E. coli endotoxin was studied by light and electron microscopy. By 2 hr, there was margination and migration of polymorphonuclear leukocytes. Single cell necrosis was seen after 8 hr. At 16 hr, there were numerous necrotic foci in the mid-zonal region of hepatic lobules, as ...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/BF01318697

    authors: Young RS,Woods C,Towfighi J

    更新日期:1986-06-01 00:00:00

  • Drug and treatment efficacy of chenodeoxycholic acid in 97 patients with cholelithiasis and increased surgical risk.

    abstract::Patients with symptomatic cholelithiasis who represent higher than normal surgical risks may be the most suitable candidates for medical dissolution of gallstones. Chenodeoxycholic acid was given to 97 patients in a dosage of 15 mg/kg of body weight per day for a period of two years. Complete gallstone dissolution occ...

    journal_title:Digestive diseases and sciences

    pub_type: 临床试验,杂志文章

    doi:10.1007/BF01308157

    authors: Tangedahl T,Carey WD,Ferguson DR,Forsythe S,Williams M,Paradis K,Hightower NC

    更新日期:1983-06-01 00:00:00

  • Prevalence, sociodemography, and quality of life of older versus younger patients with irritable bowel syndrome: a population-based study.

    abstract::We studied the prevalence as well as the sociodemographic characteristics and QOL of older adults (> 50 years) with irritable bowel syndrome (IBS) among the population at large and compared it to their younger counterparts'. We hypothesized that IBS is less prevalent among older persons and they suffer poorer QOL comp...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-006-3153-8

    authors: Minocha A,Johnson WD,Abell TL,Wigington WC

    更新日期:2006-03-01 00:00:00

  • Cryptosporidiosis and inflammatory bowel disease. Experience from the Milwaukee outbreak.

    abstract::The 1993 Milwaukee Cryptosporidium outbreak posed several questions regarding appropriate management and prognosis of inflammatory bowel disease patients acutely infected with this organism. We prospectively identified and monitored 12 patients with stable ulcerative colitis or Crohn's disease who suffered abrupt clin...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1023/a:1018828507990

    authors: Manthey MW,Ross AB,Soergel KH

    更新日期:1997-08-01 00:00:00

  • Risk Factors for Rescue Therapy in Crohn's Patients Maintained on Infliximab After Withdrawal of the Immunomodulator: A Long-Term Follow-Up.

    abstract:BACKGROUND:Usefulness of thiopurine and scheduled infliximab combination therapy in non-immunomodulator (IM)-naïve Crohn's disease (CD) patients and the optimal length of dual therapy are still debated. AIMS:To determine proportion of patients developing disease flare requiring rescue therapy and risk factors associat...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-017-4771-z

    authors: Fischer M,Campbell SC,Calley CSJ,Helper DJ,Chiorean MV,Fadda HM

    更新日期:2017-11-01 00:00:00

  • Healing of benign gastric ulcer. A placebo-controlled comparison of two dosage regimens of misoprostol, a synthetic analog of prostaglandin E1.

    abstract::Misoprostol, a synthetic prostaglandin E1 methyl ester analog with gastric antisecretory and cytoprotective properties, prevents the development of acute experimental gastric and duodenal ulcers in various animal models. This study was designed as a multicenter randomized double-blind parallel-group comparison of the ...

    journal_title:Digestive diseases and sciences

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1007/BF01309404

    authors: Agrawal NM,Saffouri B,Kruss DM,Callison DA,Dajani EZ

    更新日期:1985-11-01 00:00:00

  • Incidence of esophageal carcinoma among Malays in North-Eastern Peninsular Malaysia: an area with an exceptionally low prevalence of Helicobacter pylori infection.

    abstract:BACKGROUND:Obesity, gastroesophageal reflux, and Barrett's esophagus have all been linked to esophageal adenocarcinoma. In addition, the decline in Helicobacter pylori (H. pylori) infection in affluent societies has also been suggested to be a major factor in the recent rise in the incidence of esophageal adenocarcinom...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-010-1473-1

    authors: Lee YY,Raj SM,Sharif SE,Salleh R,Ayub MC,Graham DY

    更新日期:2011-05-01 00:00:00

  • Oncogenic transformation of normal enterocytes by overexpression of cyclin D1.

    abstract::Cyclin D1 plays an important role in the multi-step process of gastrointestinal tumorigenesis. We hypothesize that normal enterocytes over-expressing cyclin D1 will demonstrate a transformed phenotype. The nontumorigenic intestinal epithelial cell line, IEC-18, was transfected with the vector pMV7-CCND1, encoding cycl...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1023/a:1024138605802

    authors: Kazanov D,Shapira I,Pick M,Kolker O,Liberman E,Deutsch V,Strier L,Dvory-Sobol H,Kunik T,Arber N

    更新日期:2003-07-01 00:00:00

  • Saccharomyces boulardii in maintenance treatment of Crohn's disease.

    abstract::The possible role of Saccharomyces boulardii, a nonpathogenic yeast with beneficial effects on the human intestine, in the maintenance treatment of Crohn's disease has been evaluated. Thirty-two patients with Crohn's disease in clinical remission (CDAI < 150) were randomly treated for six months with either mesalamine...

    journal_title:Digestive diseases and sciences

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1023/a:1005588911207

    authors: Guslandi M,Mezzi G,Sorghi M,Testoni PA

    更新日期:2000-07-01 00:00:00

  • Thyroid, renal, and hepatic function tests following cholecystography with high-dose contrast agents.

    abstract::Serum biochemical tests were observed for about three weeks following oral cholecystography with fractionated high doses (6 g) of iopanoic acid (Telepaque) or sodium ipodate (Biloptin) in 24 and 29 patients, respectively. Both agents produced similar effects. No significant changes were seen in renal or hepatic functi...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/BF01308063

    authors: Reiner RG,Lawson MJ,Marshall J,Read TR,Beng CG,Davies GT,Tucker WG,Grant AK

    更新日期:1980-05-01 00:00:00

  • A survey of irritable bowel syndrome in Vietnam using the Rome criteria.

    abstract::Prevalence estimates for irritable bowel syndrome from surveys in Western countries are 4.4% to 22%, generally higher in women than men, and only a minority seek health care. There are few studies of bowel patterns in Asian countries. We conducted a survey of a nonpatient population in Ho Chi Minh City, Vietnam, to de...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-005-9005-0

    authors: Zuckerman MJ,Nguyen G,Ho H,Nguyen L,Gregory GG

    更新日期:2006-05-01 00:00:00

  • A molecular analysis of fecal and mucosal bacterial communities in irritable bowel syndrome.

    abstract:PURPOSE:The objectives of this study were, firstly, to determine the diversity of the host's gut microbiota in irritable bowel syndrome (IBS) using a culture-independent method (DGGE of the 16S rRNA gene) and, secondly, to examine mucosal biopsies of IBS patients and compare them to their own fecal microbiota. METHODS...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-009-0934-x

    authors: Codling C,O'Mahony L,Shanahan F,Quigley EM,Marchesi JR

    更新日期:2010-02-01 00:00:00

  • Endoscopy, gastric ulcer, and gastric cancer. Follow-up endoscopy for all gastric ulcers?

    abstract::The practice of following benign-appearing gastric ulcers until healing was critically evaluated in a retrospective manner by reviewing all gastric ulcers that were followed with serial endoscopy and all gastric cancers diagnosed at the University of Alabama at Birmingham. The stated purpose of following ulcers to hea...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/BF01307545

    authors: Pruitt RE,Truss CD

    更新日期:1993-02-01 00:00:00

  • Effect of chronic ethanol ingestion on zinc absorption in rat small intestine.

    abstract::The effect of chronic ethanol ingestion on the ability of the small intestine to absorb zinc was examined in male Sprague-Dawley rats. Six rats were fed the Lieber-Decarli liquid rat diet for 1 month during which 36% of their total calories were provided as ethanol, while their pair fed controls received these calorie...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/BF01299920

    authors: Antonson DL,Vanderhoof JA

    更新日期:1983-07-01 00:00:00

  • Attenuated GABAergic Signaling in Intestinal Epithelium Contributes to Pathogenesis of Ulcerative Colitis.

    abstract:BACKGROUND:Neuromediators produced by enteric nervous system regulate inflammatory processes via interacting with enteric immune system. Role of γ-aminobutyric acid (GABA), which is also a neuromediator, has been implicated in autoimmune diseases like multiple sclerosis, type 1 diabetes, and rheumatoid arthritis, where...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-017-4662-3

    authors: Aggarwal S,Ahuja V,Paul J

    更新日期:2017-10-01 00:00:00

  • Celiac Disease Screening for High-Risk Groups: Are We Doing It Right?

    abstract::Celiac disease (CD) is an immune-mediated enteropathy triggered by dietary ingestion of gluten in genetically susceptible patients. CD is often diagnosed by a "case-finding" approach of symptomatic patients. In recent times, the diagnostic paradigm has shifted to investigate patients who may be asymptomatic, but are a...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章,评审

    doi:10.1007/s10620-020-06352-w

    authors: Kumral D,Syed S

    更新日期:2020-08-01 00:00:00

  • Efficacy of Vonoprazan-Based Triple Therapy for Helicobacter pylori Eradication: A Multicenter Study and a Review of the Literature.

    abstract:BACKGROUND:Eradication therapies for Helicobacter pylori infection are advancing as new acid inhibitory reagents approved. The aim of this study was to assess the efficacy and safety of vonoprazan-based triple treatment. MATERIALS AND METHODS:Triple therapy with vonoprazan and two antibiotics (amoxicillin and clarithr...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章,多中心研究,评审

    doi:10.1007/s10620-017-4664-1

    authors: Tanabe H,Ando K,Sato K,Ito T,Goto M,Sato T,Fujinaga A,Kawamoto T,Utsumi T,Yanagawa N,Ichiishi E,Otake T,Kohgo Y,Nomura Y,Ueno N,Sugano H,Kashima S,Moriichi K,Fujiya M,Okumura T

    更新日期:2017-11-01 00:00:00

  • Increased susceptibility to severe chronic liver damage in CXCR4 conditional knock-out mice.

    abstract:BACKGROUND:The chemokine SDF-1 and its receptor CXCR4 are essential for the proper functioning of multiple organs. In the liver, cholangiocytes and hepatic progenitor cells (HPCs) are the main cells that produce SDF-1, and SDF-1 is thought to be essential for HPC-stimulated liver regeneration. AIMS:In this study, CXCR...

    journal_title:Digestive diseases and sciences

    pub_type: 杂志文章

    doi:10.1007/s10620-012-2239-8

    authors: Tsuchiya A,Imai M,Kamimura H,Takamura M,Yamagiwa S,Sugiyama T,Nomoto M,Heike T,Nagasawa T,Nakahata T,Aoyagi Y

    更新日期:2012-11-01 00:00:00

  • Correction to: Effect of TELEmedicine for Inflammatory Bowel Disease on Patient Activation and Self-Efficacy.

    abstract::This manuscript is a secondary analysis of a large multicenter randomized controlled trial. The primary study is Cross RK et al., A Randomized Controlled Trial of TELEmedicine for patients with Inflammatory Bowel Disease (TELE-IBD). Am J Gastroenterol, 2019 Mar. ...

    journal_title:Digestive diseases and sciences

    pub_type: 已发布勘误

    doi:10.1007/s10620-019-05953-4

    authors: Bilgrami Z,Abutaleb A,Chudy-Onwugaje K,Langenberg P,Regueiro M,Schwartz DA,Tracy JK,Ghazi L,Patil SA,Quezada SM,Russman KM,Quinn CC,Jambaulikar G,Beaulieu DB,Horst S,Cross RK Jr

    更新日期:2020-02-01 00:00:00