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Record W4385973091 · doi:10.1016/j.kint.2023.07.021

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

2023· article· en· W4385973091 on OpenAlexaff
Laura R. Claus, Chuan Chen, Jennifer L. Stallworth, Joshua L. Turner, Gisela G. Slaats, Alexandra L. Hawks, Holly Mabillard, Sarah R. Senum, Sujata Srikanth, Heather Flanagan‐Steet, Raymond J. Louie, Josh Silver, Jordan Lerner‐Ellis, Chantal F. Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko J. van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Éric Goffin, Eric Olinger, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Tim Hubbard, Robert B. Jackson, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Martin J. Larsen, Jens Michael Hertz, Marc R. Liliën, Lena Obeidová, Tomáš Seeman, Hillarey Stone, Larissa Kerecuk, M. Gurgu, Fjodor A. Yousef Yengej, Carola M. E. Ammerlaan, Maarten B. Rookmaaker, Christian Hanna, Richard C. Rogers, Karen Duran, Edith Peters, John A. Sayer, Gijs van Haaften, Peter C. Harris, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet

Bibliographic record

VenueKidney International · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Kidney Cyst Diseases
Canadian institutionsLunenfeld-Tanenbaum Research InstituteUniversity of TorontoUniversity Health NetworkCentre for Family MedicineMount Sinai Hospital
FundersNational Institute of General Medical SciencesKidney Research UKNational Institute of Diabetes and Digestive and Kidney DiseasesMedical Research CouncilNational Institute for Health and Care Research
KeywordsPKD1CiliumCiliogenesisMissense mutationBiologyPolycystic kidney diseaseAutosomal dominant polycystic kidney diseaseProtein kinase domainCiliopathyKinaseKnockout mouseCell biologyKidneyGeneticsMutationCancer researchPhenotypeGeneMutant

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)0.001
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.789
Threshold uncertainty score0.600

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
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 science0.0010.000
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 head0.010
GPT teacher head0.257
Teacher spread0.247 · 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

Citations40
Published2023
Admission routes1
Has abstractno

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