ArticleJournal of medical genetics2022
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Navigating the landscape of protein folding and proteostasis: from molecular chaperones to therapeutic innovations.Signal transduction and targeted therapy · 2025Review
- Non-Canonical, Strongly Selective Protein Disulfide Isomerases as Anticancer Therapeutic Targets.Biomolecules · 2025Review
- Patients with RIFTD syndrome cystic fibrosis-like disorder: a report of two sibling cases.Gastroenterology and hepatology from bed to bench · 2025Article
- A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.Journal of clinical immunology · 2024Article
- Review
- Keeping goblet cells unstressed: new insights into a general principle.The EMBO journal · 2024Article
- Activation of goblet-cell stress sensor IRE1β is controlled by the mucin chaperone AGR2.The EMBO journal · 2024Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.Genetics in medicine open · 2023Article
Corrections and comments
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Authors and funding
39 authors at 11 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.
methodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.
resultsWe identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in
conclusionWe describe a previously unrecognised autosomal recessive disorder caused by
Indexed as
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What OpenQuestion holds
Registered trials
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.