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Record W3116352320 · doi:10.1126/sciadv.abe1386

Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice

2021· article· en· W3116352320 on OpenAlexafffund
Amar J. Majmundar, Florian Buerger, Thomas Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Sara E. Howden, Michelle Scurr, Ker Sin Tan, Mickaël Krzeminski, Eugen Widmeier, Daniela A. Braun, Ethan Lai, Ihsan Ullah, Ali Amar, Amy Kolb, Kaitlyn Eddy, Chin Heng Chen, Daanya Salmanullah, Rufeng Dai, Makiko Nakayama, Isabel Ottlewski, Caroline M. Kolvenbach, Ana C. Onuchic-Whitford, Youying Mao, Nina Mann, Marwa M. Nabhan, Seymour Rosen, Julie D. Forman‐Kay, Neveen A. Soliman, Andreas Heilos, Renate Kain, Christoph Aufricht, Shrikant Mane, Richard P. Lifton, Shirlee Shril, Melissa H. Little, Friedhelm Hildebrandt

Bibliographic record

VenueScience Advances · 2021
Typearticle
Languageen
FieldMedicine
TopicRenal Diseases and Glomerulopathies
Canadian institutionsUniversity of TorontoHospital for Sick ChildrenMcGill University Health Centre
FundersNational Human Genome Research InstituteNational Health and Medical Research CouncilNatural Sciences and Engineering Research Council of CanadaHarvard Stem Cell InstitutePKD AustraliaAmerican Society of NephrologyCanadian Institutes of Health ResearchDeutsche Akademie der Naturforscher Leopoldina - Nationale Akademie der WissenschaftenDeutsche ForschungsgemeinschaftEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentKidney Foundation of CanadaNational Institute of Diabetes and Digestive and Kidney DiseasesMethuselah FoundationNational Institutes of HealthCanadian Society of Nephrology
KeywordsActinPodocyteBiologyKidney GlomerulusGlomerulopathyCell biologyKidneyNeuroscienceGeneticsGlomerulonephritisProteinuria

Abstract

fetched live from OpenAlex

variants impair CDC42/DIAPH-dependent actin remodeling, cause aberrant organoid glomerulogenesis, and lead to a glomerulopathy in humans and mice.

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 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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.639
Threshold uncertainty score0.426

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.001
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 head0.015
GPT teacher head0.309
Teacher spread0.295 · 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 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

Citations32
Published2021
Admission routes2
Has abstractyes

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