MétaCan
Menu
Back to cohort
Record W2143319828 · doi:10.1016/j.ajhg.2014.12.002

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

2014· article· en· W2143319828 on OpenAlexafffund
Markus Schueler, Daniela A. Braun, Gayathri Chandrasekar, Heon Yung Gee, Timothy D. Klasson, Jan Halbritter, Andrea Bieder, Jonathan D. Porath, Rannar Airik, Weibin Zhou, Joseph J. LoTurco, Alicia Che, Edgar A. Otto, Detlef Böckenhauer, Neil J. Sebire, Tomáš Honzík, Peter C. Harris, Sarah Koon, Meral Gunay‐Aygun, Sophie Saunier, Klaus Zerres, Nadina Ortiz Bruechle, Joost P.H. Drenth, Laurence Pelletier, Isabel Tapia‐Páez, Richard P. Lifton, Rachel H. Giles, Juha Kere, Friedhelm Hildebrandt

Bibliographic record

VenueThe American Journal of Human Genetics · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Kidney Cyst Diseases
Canadian institutionsLunenfeld-Tanenbaum Research InstituteUniversity of TorontoMount Sinai Hospital
FundersCanadian Institutes of Health ResearchNational Institute of Diabetes and Digestive and Kidney DiseasesKarolinska InstitutetHoward Hughes Medical Institute
KeywordsCiliopathyCiliogenesisBiologyNephronophthisisCiliumWnt signaling pathwayCiliopathiesGene knockdownCell biologyPronephrosCancer researchGeneticsZebrafishSignal transductionPhenotypeCell cultureGene

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.045
Threshold uncertainty score0.536

Codex and Gemma teacher scores by category

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)0.0000.000

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 head0.009
GPT teacher head0.266
Teacher spread0.258 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations119
Published2014
Admission routes2
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicGenetic and Kidney Cyst DiseasesFrench-language works237,207