The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Human Genetics

• Publication date

  2005-09-29

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-005-0059-zPMID 16193325
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cystic Fibrosis

  2009cited by this paper
• Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

  2004influential reference
• Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations

  2004cited by this paper
• Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis?

  2004cited by this paper
• Cystic fibrosis

  2003cited by this paper
• CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.

  2002influential reference
• Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.

  2002influential reference
• Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.

  2001influential reference
• Cystic Fibrosis Carrier Screening: Steps in the Development of a Mutation Panel

  2001influential reference
• A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

  2000cited by this paper
• Genotype and Phenotype in Cystic Fibrosis

  2000cited by this paper
• Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

  2000cited by this paper
• Increased Prevalence of Mutations of the Cystic Fibrosis Gene in Idiopathic Chronic and Recurrent Pancreatitis

  1999cited by this paper
• Polyvariant mutant CFTR genes in patients with chronic pancreatitis

  1999cited by this paper
• Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

  1998cited by this paper
• Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

  1998cited by this paper
• Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

  1998cited by this paper
• The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

  1998cited by this paper
• Chronic pancreatitis.

  1995cited by this paper
• In Vivo Nasal Potential Difference: Techniques and Protocols for Assessing Efficacy of Gene Transfer in Cystic Fibrosis

  1995cited by this paper
• Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

  1995cited by this paper
• The changing epidemiology of cystic fibrosis.

  1994cited by this paper
• A mutation in CFTR produces different phenotypes depending on chromosomal background

  1993cited by this paper
• The changing epidemiology of cystic fibrosis.

  1993cited by this paper
• Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

  1993influential reference
• Genetic determination of exocrine pancreatic function in cystic fibrosis.

  1992cited by this paper
• The spectrum of cystic fibrosis mutations.

  1992cited by this paper
• [Chronic pancreatitis].

  1991influential reference
• The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

  1990cited by this paper
• Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

  1989cited by this paper
• Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA

  1989cited by this paper
• Relapsing pancreatitis as initial manifestation of cystic fibrosis in a young man without pulmonary disease

  1989influential reference
• Acute pancreatitis in childhood.

  1988cited by this paper
• Cystic fibrosis: A review of pulmonary infections and interventions

  1987cited by this paper
• Pancreatitis as initial presentation of cystic fibrosis in young adults

  1983cited by this paper
• Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption.

  1982cited by this paper
• Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis.

  1981cited by this paper
• Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes.

  1975cited by this paper
• [The secretin test].

  1974cited by this paper
• ACUTE PANCREATITIS IN CHILDHOOD.

  1963cited by this paper
• A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.

  1959cited by this paper

• Modern aspects of diagnosis, prevention and treatment of complications after resection and drainage operations on the pancreas in chronic pancreatitis

  2026cites this paper
• Sweat chloride reflects CFTR function and correlates with clinical outcomes following CFTR modulator treatment.

  2025cites this paper
• Recurrent Pancreatitis Associated with CFTR Heterozygous Mutation

  2025cites this paper
• Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study

  2025cites this paper
• ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

  2024cites this paper
• ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

  2024cites this paper
• ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.

  2022cites this paper
• Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis

  2022cites this paper
• Surgical considerations in cystic fibrosis: what every general surgeon needs to know

  2022cites this paper
• Genetic Testing in Acute and Chronic Pancreatitis

  2022cites this paper
• Variation in CFTR-dependent ‘β-sweating’ among healthy adults

  2022cites this paper
• How the sweat gland reveals levels of CFTR activity.

  2022cites this paper
• Turkish Gastroenterology Association, Pancreas Study Group, Chronic Pancreatitis Committee Consensus Report.

  2020influential citation
• Exocrine Pancreatic Insufficiency and Nutritional Complications

  2020cites this paper
• The Evolution of Precision Medicine in Cystic Fibrosis

  2020cites this paper
• Nutrition and gastrointestinal disorders

  2020cites this paper
• Brushed nasal epithelial cells are a surrogate for bronchial epithelial CFTR studies.

  2018cites this paper
• V232D mutation in patients with cystic fibrosis

  2018cites this paper
• Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

  2018cites this paper
• CHRONIC PANCREATITIS: WHAT THE CLINICIAN WANT TO KNOW FROM MRI

  2018cites this paper
• Chronic Pancreatitis: What the Clinician Wants to Know from MR Imaging.

  2018cites this paper
• Cystic Fibrosis (CFTR)‐Associated Pancreatic Disease

  2018cites this paper
• The Loss Of ATRX Creates Susceptibility To KRAS-Mediated Pancreatic Damage

  2017cites this paper
• Pancreatitis and pancreatic cystosis in Cystic Fibrosis.

  2017cites this paper
• MICROCURRENT STIMULATION EFFICACY ON CHRONIC PANCREATITIS PAIN

  2017cites this paper
• Definition and Classification of Chronic Pancreatitis

  2017cites this paper
• Diagnosis of Cystic Fibrosis in Nonscreened Populations

  2017cites this paper
• Stem cell-derived organoids to model gastrointestinal facets of cystic fibrosis

  2017cites this paper
• Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group

  2017cites this paper
• Chronic Pancreatitis: Landmark Papers, Management Decisions, and Future.

  2016cites this paper
• Analysis of clinical course of chronic pancreatitis in children with IVS 8-5 T variant in comparison with patients with CFTR mutation-related pancreatitis

  2016cites this paper
• Pancreatic involvement in cystic fibrosis.

  2016cites this paper
• Comparison of Nasal Potential Difference and Intestinal Current Measurements as Surrogate Markers for CFTR Function

  2016cites this paper
• Prevalence of Pancreatitis in Female and Male Pediatric Patients in Eastern Kentucky in the United States.

  2016cites this paper
• Idiopathic Chronic Pancreatitis: Genetic Predisposition

  2016cites this paper
• Gastrointestinal Disorders in Cystic Fibrosis.

  2016cites this paper
• CFTR: A New Horizon in the Pathomechanism and Treatment of Pancreatitis.

  2016cites this paper
• Gastrointestinal in Cystic Fibrosis

  2016cites this paper
• Hereditary Pancreatitis and Chronic Pancreatitis

  2016cites this paper
• Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

  2016cites this paper
• GENETIC INVESTIGATIONS IN CHRONIC PANCREATITIS AND PANCREATIC CANCER

  2015cites this paper
• Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

  2015cites this paper
• Animal models of gastrointestinal and liver diseases. Animal models of cystic fibrosis: gastrointestinal, pancreatic, and hepatobiliary disease and pathophysiology.

  2015cites this paper
• Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis

  2015cites this paper
• Genetic analysis of the bicarbonate secreting anion exchanger SLC26A6 in chronic pancreatitis.

  2015cites this paper
• Nasal potential difference: Best or average result for CFTR function as diagnostic criteria for cystic fibrosis?

  2015cites this paper
• Pancreatic mass in a young CFTR carrier with a heterozygous p.R117H CFTR gene mutation and homozygous 7T.

  2015cites this paper
• Cystic Fibrosis in the Genomic Era: CFTR Genotyping as a Diagnostic Test

  2014cites this paper
• Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data.

  2014cites this paper
• Cystic fibrosis: An update for clinicians. Part 2: Hepatobiliary and pancreatic manifestations

  2014cites this paper
• Frequency of SPINK1 N34S mutation in acute and recurrent acute pancreatitis

  2014cites this paper
• p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

  2014cites this paper
• Abdominal pain in adults with cystic fibrosis

  2014cites this paper
• Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?

  2014cites this paper
• In Vivo Readout of CFTR Function: Ratiometric Measurement of CFTR-Dependent Secretion by Individual, Identifiable Human Sweat Glands

  2013cites this paper
• [Male 16 years old with recurrent acute pancreatitis: abnormal conductance regulator gen for cystic fibrosis transmembrane regulator].

  2013cites this paper
• The cystic fibrosis of exocrine pancreas.

  2013cites this paper
• Defining the Accuracy of Secretin Pancreatic Function Testing in Patients With Suspected Early Chronic Pancreatitis

  2013cites this paper
• Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

  2013cites this paper
• Genetisch determinierte Pankreaserkrankungen

  2012cites this paper
• Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?

  2012cites this paper
• chronic pancreatitis HP : hereditary pancreatitis Penetrance : the probability that an individual with a particular genotype expresses a particular phenotype Expressed pseudogene : a transition state between a functioning duplicated gene and a nonfunctional pseudogene INTRODUCTION Chronic pancreatit

  2012cites this paper
• Genetic Prevalence and Characteristics in Children With Recurrent Pancreatitis

  2012influential citation
• Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis

  2012cites this paper
• CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

  2012cites this paper
• Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

  2012cites this paper
• Editorial: Pancreas Divisum Does Not Cause Pancreatitis, But Associates With CFTR Mutations

  2012cites this paper
• Pancreatitis crónica: más allá del alcohol

  2012cites this paper
• Современные представления об этиологии хронического панкреатита и коррекции функциональной недостаточности поджелудочной железы

  2012cites this paper
• [Chronic pancreatitis: beyond alcohol].

  2012cites this paper
• Early in vivo testing to assess new therapeutic interventions in CF patients.

  2012cites this paper
• Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease.

  2012cites this paper
• Diagnosis of Cystic Fibrosis in Adults

  2012cites this paper
• Symposium Summaries

  2012cites this paper
• Pancreas Divisum

  2011cites this paper
• A Novel Exon Duplication of the Cystic Fibrosis Transmembrane Conductance Regulator in a Patient Presenting With Adult-Onset Recurrent Pancreatitis

  2011cites this paper
• Chronic pancreatitis

  2011cites this paper
• Clinical Approach to Pancreatobiliary Disease

  2011cites this paper
• Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis.

  2011cites this paper
• CFTR-Mutationstyp beeinflusst Pankreatitisrisiko bei Mukoviszidose

  2011cites this paper
• Recommendations for the classification of diseases as CFTR-related disorders.

  2011cites this paper
• The Etiology of Acute Recurrent Pancreatitis in Children: A Challenge for Pediatricians

  2011cites this paper
• [Pancreatitis in cystic fibrosis: association with genotype and pancreatic status].

  2011cites this paper
• Chronic pancreatitis.

  2011cites this paper
• Nasal polyposis and cystic fibrosis(CF): review of the literature.

  2011cites this paper
• Genetic testing in pancreatitis.

  2010cites this paper
• Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?

  2010cites this paper
• LINICAL — LIVER , PANCREAS , AND BILIARY RACT ype of CFTR Mutation Determines Risk of Pancreatitis in Patients With ystic Fibrosis

  2010cites this paper
• CFTR Gene Mutation in Patients with Apparently Idiopathic Pancreatitis: Lack of Phenotype-Genotype Correlation

  2010cites this paper
• Hereditary, Familial, and Genetic Disorders of the Pancreas and Pancreatic Disorders in Childhood

  2010cites this paper
• Thesis for the Master's Degree in Molecular Biosciences

  2009cites this paper
• Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma

  2009cites this paper
• Glutathione S-transferases related to P. aeruginosa lung infection in cystic fibrosis children: preliminary study.

  2009cites this paper
• Does the Macroduct collection system reliably define sweat chloride concentration in subjects with intermediate results?

  2009cites this paper
• Chronic pancreatitis: genetics and pathogenesis.

  2009cites this paper
• Measurement of Chloride Concentrations of Insensible Sweat Collected From Thumb

  2009cites this paper
• Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

  2008cites this paper
• [Genetic risk factors in chronic pancreatitis].

  2008cites this paper
• Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

  2008cites this paper
• A 21-year-old man with chronic pancreatitis.

  2008cites this paper