ArticleGut2003
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
Article in Gut, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 175 citations in OpenAlex.
- Protein sorting and proteostasis mechanisms in CFTR-related exocrine pancreas dysfunction: A systematic narrative review.Channels (Austin, Tex.) · 2026Pooled it
- Utility of Fecal Elastase-1 in Estimating Exocrine Pancreatic Function in Cystic Fibrosis: A Scoping Review.Pediatric pulmonology · 2026Article
- Article
- Validation of dietary whey protein substrate challenge absorption test as an indicator of proteolysis.PloS one · 2025Article
- pH Homeodynamics and Male Fertility: A Coordinated Regulation of Acid-Based Balance during Sperm Journey to Fertilization.Biomolecules · 2024Review
- Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.Diagnostics (Basel, Switzerland) · 2024Review
- Modified throughput ninhydrin method for the qualitative assessment of dietary protein absorption in pig plasma.Biology methods & protocols · 2024Article
- Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.Pharmaceutics · 2023Review
- Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.International journal of molecular sciences · 2022Article
- Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.Orphanet journal of rare diseases · 2022Article
- Current clinical opinion on CFTR dysfunction and patient risk of pancreatitis: diagnostic and therapeutic considerations.Expert review of gastroenterology & hepatology · 2022Article
- The clinical impact of the Covid-19 pandemic first wave on patients with cystic fibrosis in New York.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2022Article
- Faecal calprotectin and rectal histological inflammatory markers in cystic fibrosis: a single-centre study.BMJ paediatrics open · 2022Article
- Review
- Cystic Fibrosis Human Organs-on-a-Chip.Micromachines · 2021Review
- CFTR Modulators: Does One Dose Fit All?Journal of personalized medicine · 2021Review
- Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors.Diagnostics (Basel, Switzerland) · 2021Review
- Mechanisms of Post-Pancreatitis Diabetes Mellitus and Cystic Fibrosis-Related Diabetes: A Review of Preclinical Studies.Frontiers in endocrinology · 2021Review
- Islet Function in the Pathogenesis of Cystic Fibrosis-Related Diabetes Mellitus.Clinical medicine insights. Endocrinology and diabetes · 2021Review
- Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.BMC pediatrics · 2019Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
aimsWe tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function.
methodsWe assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110 were pancreatic sufficient, and 22 pancreatic sufficient patients progressed to pancreatic insufficiency after diagnosis.
resultsWe identified mutations on both alleles in 633 patients (85.3%), on one allele in 95 (12.8%), and on neither allele in 14 (1.9%). Seventy six different mutations were identified. The most common mutation was DeltaF508 (71.3%) followed by G551D (2.9%), G542X (2.3%), 621+1G-->T (1.2%), and W1282X (1.2%). Patients were categorized into five classes according to the predicted functional consequences of each mutation. Over 95% of patients with severe class I, II, and III mutations were pancreatic insufficient or progressed to pancreatic insufficiency. In contrast, patients with mild class IV and V mutations were consistently pancreatic sufficient. In all but four cases each genotype correlated exclusively with the pancreatic phenotype. Quantitative data of acinar and ductular secretion were available in 93 patients. Patients with mutations belonging to classes I, II, and III had greatly reduced acinar and ductular function compared with those with class IV or V mutations.
conclusionThe predicted or known functional consequences of specific mutant alleles correlate with the severity of pancreatic disease in cystic fibrosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.