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HOXA1 A218G Polymorphism is Associated with Smaller Cerebellar Volume in Healthy Humans

2009· article· en· W2116713390 on OpenAlex
Elisa Canu, Marina Boccardi, Roberta Ghidoni, Luisa Benussi, Simon Duchesne, Cristina Testa, Giuliano Binetti, Giovanni B. Frisoni

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueJournal of Neuroimaging · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDevelopmental Biology and Gene Regulation
Canadian institutionsUniversité Laval
Fundersnot available
KeywordsCerebellumMedicineHindbrainStatistical parametric mappingMagnetic resonance imagingAnatomyInternal medicineCentral nervous systemRadiology

Abstract

fetched live from OpenAlex

BACKGROUND AND PURPOSE: The Homeobox A1 (HOXA1) gene plays a critical role during development of the hindbrain in mice. Little is currently known about the relation between this gene and human brain development. The HOXA1 A218G polymorphism has been found to be associated with autism and larger head circumference in autistic patients. Similar effects were revealed also in healthy children but not in adult controls. The aim of this study was to investigate the role of the A218G polymorphism on the hindbrain structure of healthy adults. METHODS: Healthy persons from two independent groups underwent 3-dimensional high resolution magnetic resonance (MR) exam. Group A was made of 80 persons (27 G allele carriers and 53 non-carriers) and Group B of 72 (26 carriers and 46 non-carriers). Statistical parametric mapping 2 (SPM2) were used to perform voxel-based analysis of the gray matter (GM) of the hindbrain in carriers and non. Significance threshold was set at .05 with small volume correction using a cerebellar mask. RESULTS: In Group A, G carriers exhibited decreased GM volume in the superior posterior and anterior lobe of the cerebellum bilaterally. In Group B, decreased GM volume were found across the entire left cerebellar cortex. CONCLUSIONS: These data suggest that the HOXA1 A218G polymorphism may affect cerebellar development in humans.

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.

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 score0.612
Threshold uncertainty score0.386

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 head0.011
GPT teacher head0.245
Teacher spread0.234 · 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