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Record W2583906931 · doi:10.1002/mds.26753

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

2017· article· en· W2583906931 on OpenAlexafffundabout
Gabrielle Houle, Jean-François Schmouth, Claire S. Leblond, Amirthagowri Ambalavanan, Dan Spiegelman, Sandra B. Laurent, Cynthia V. Bourassa, Michel Panisset, Sylvain Chouinard, Nicolas Dupré, Carles Vilariño‐Güell, Alex Rajput, Patrick A. Dion, Guy A. Rouleau

Bibliographic record

VenueMovement Disorders · 2017
Typearticle
Languageen
FieldMedicine
TopicNeurological disorders and treatments
Canadian institutionsUniversity of British ColumbiaUniversity of SaskatchewanUniversité LavalHôpital de l'Enfant-JésusHôpital Notre-DameCentre hospitalier universitaire de QuébecSaskatchewan Health AuthorityCentre Hospitalier de l’Université de MontréalMcGill UniversityMontreal Neurological Institute and Hospital
FundersCanadian Institutes of Health Research
KeywordsMissense mutationNonsenseTransmembrane proteinGeneticsBiologyPopulationCohortSingle-nucleotide polymorphismNonsense mutationEssential tremorMutationMedicineNeuroscienceGenePathologyGenotypeReceptor

Abstract

fetched live from OpenAlex

INTRODUCTION: Mutations in teneurin transmembrane protein 4 were reported to be a risk factor for essential tremor, but the relevance of this across different population remains to be examined. The aim of this study was to determine the frequency and spectrum of variations in teneurin transmembrane protein 4 in a cohort of Canadian essential tremor cases. METHODS: The coding portion of teneurin transmembrane protein 4 was sequenced in 269 unrelated essential tremor cases and 288 matched control individuals using a targeted and high-throughput sequencing approach. RESULTS: A total of 157 single nucleotide variations were identified, and from these 99 were a missense or nonsense mutation. A total of 68 cases were carriers of ≥1 rare missense or nonsense mutations, and 39 control individuals were carriers of the same types of variations. Gene-based association tests were used to jointly analyze the single nucleotide variations. CONCLUSIONS: Our results do not support a positive association between teneurin transmembrane protein 4 and the Canadian population. © 2017 International Parkinson and Movement Disorder Society.

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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.261
Threshold uncertainty score0.667

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 head0.022
GPT teacher head0.291
Teacher spread0.269 · 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

Citations16
Published2017
Admission routes3
Has abstractyes

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