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Record W4413100616 · doi:10.1111/jcmm.70751

<i>CFTR</i> Gene Regulation in Human Pancreatic Duct, Bile Duct and Sweat Gland Epithelial Cells

2025· article· en· W4413100616 on OpenAlexaff
Ayushi Umrigar, Katreya Lovrenert, Jenny L. Kerschner, Neeraj Sharma, Rebecca Melton, Kyu Shik Mun, Nirbhayaditya Vaghela, Mina Ogawa, Gedge D. Rosson, Shinichiro Ogawa, Anjaparavanda P. Naren, Kyle J. Gaulton, Shih‐Hsing Leir, Ann Harris

Bibliographic record

VenueJournal of Cellular and Molecular Medicine · 2025
Typearticle
Languageen
FieldMedicine
TopicCystic Fibrosis Research Advances
Canadian institutionsToronto General Hospital
FundersVertex FoundationNational Institutes of HealthCase Western Reserve UniversityCystic Fibrosis Foundation
KeywordsCystic fibrosis transmembrane conductance regulatorChromatinBiologyCystic fibrosisCholangiocytePancreatic ductTranscription factorCell biologyGATA3Cell typeGenePancreasCancer researchGeneticsCellEndocrinology

Abstract

fetched live from OpenAlex

Epithelial cells at many sites in the body are affected by the inherited disorder cystic fibrosis (CF). The lung was the major focus of research until recently, when effective therapeutics became available for most people with CF. There is now renewed interest in CF aetiology in other locations in the body, where the regulatory mechanisms for the CF transmembrane conductance regulator (CFTR) gene are less well-characterised. The definition of the genomic elements controlling CFTR expression and their associated transcription factors is important for the design of gene-based therapies. Here we identify the cis-regulatory elements (CREs) associated with the CFTR locus by open chromatin mapping in pancreatic adenocarcinoma cell lines, primary human pancreatic and bile duct (cholangiocyte) organoids and single cells from tissues, as well as sweat gland coil and duct epithelial cells. We show that broadly these cell types use a combination of CREs that were characterised previously either in airway or intestinal epithelial cells, though not occurring together in these two cell lineages. Moreover, the chromatin structure of the CFTR locus in pancreatic cell lines is consistent with earlier models. We also use bioinformatic tools to predict the transcription factor network in these rare cell lineages from open chromatin peaks genome-wide.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.007
GPT teacher head0.279
Teacher spread0.272 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes1
Has abstractyes

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