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Record W4393654146 · doi:10.5281/zenodo.4436169

SLC12A4/SLC12A6; A Target Enabling Package

2020· dataset· en· W4393654146 on OpenAlexaff
Gamma Chi, Rebecca Ebenhoch, Henry Man, Haiping Tang, Laurence Tremblay, Gabriella Reggiano, Xingyu Qiu, Tina Bohstedt, Patrizia Abrusci, B.G. Tehan, Idlir Liko, Fernando Kude de Almeida, Alexandre P. Garneau, Dong Wang, G. McKinley, Shubhashish Mukhopadhyay, Alejandra Fernandez‐Cid, Samira Slimani, Julie Lavoie, N. Burgess-Brown, Frank DiMaio, Paul Isenring, Carol V. Robinson, K.L. Duerr

Bibliographic record

VenueZenodo (CERN European Organization for Nuclear Research) · 2020
Typedataset
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicChemical Synthesis and Analysis
Canadian institutionsUniversité de MontréalUniversité Laval
FundersWellcome
KeywordsR packageComputer sciencePackage designProgramming languageEngineering drawingEngineering

Abstract

fetched live from OpenAlex

KCC1 (SLC12A4) and KCC3 (SLC12A6) are co-transporters of potassium and chloride, and members of cation-chloride co-transporter (CCC; or Solute Carrier 12) family. They regulate chloride level and cell volume via export of potassium and chloride ions. KCC1 plays an important role in sickle cell diseases, where its activity leads to sickling of red blood cells, a key pathological feature of the disease. Hence, symptoms of this common genetic disorder can be significantly reduced by inactivation of KCC1. KCC3 is highly expressed in neurones, where its inherited defect can lead to a rare form of peripheral neuropathy, Andermann Syndrome. This TEP presents the structures of KCC1 and KCC3 in both wild-type and inactivated states, revealing structural mechanisms for their regulation. From these structures, we have identified ligands ATP and magnesium ion, and have subsequently used biophysical assay and mass spectrometry to characterise them. These can be exploited to develop small molecule modulators to treat sickle cell diseases, one of the most common genetic disorders with unmet needs, as well as neurological disorders.

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)0.001
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Dataset · Consensus signal: Dataset
Teacher disagreement score0.112
Threshold uncertainty score0.373

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0030.006
Science and technology studies0.0010.000
Scholarly communication0.0020.001
Open science0.0020.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.1120.075

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 head0.021
GPT teacher head0.236
Teacher spread0.215 · 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 designNot applicable
Domainnot available
GenreDataset

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

Citations0
Published2020
Admission routes1
Has abstractyes

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Same venueZenodo (CERN European Organization for Nuclear Research)Same topicChemical Synthesis and AnalysisFrench-language works237,207