The Fragile<scp>X</scp>Syndrome
Bibliographic record
Abstract
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the first genetic cause of autism spectrum disorders, affecting approximately 1/7000 females and 1/4000 males worldwide. The syndrome is due to the silencing of a single X-linked gene, the FRAGILE X MENTAL RETARDATION 1 ( FMR1 ) gene. Patients affected by FXS display a variety of physical and mental phenotypic traits. In the last 25 years, research advances in the fragile X syndrome field have led to a better understanding of its molecular bases as well as of the pleiotropic phenotypic effects due to the absence of the FMR1 gene product, the mRNA (messenger ribonucleic acid) translation regulator coined as fragile X mental retardation protein (FMRP). Key Concepts Fragile X Syndrome (FXS) is an inherited neurodevelopmental disorder and a trinucleotide repeat disorder. FXS is a frequent cause of intellectual disability and autism. FXS is caused by the silencing of a single X-linked gene, the FMR1 gene. The full mutation is reached when CGG repeats in the FMR1 gene exceed 200, causing loss-of-function of the gene. FMR1 premutation with intermediate CGG repeats is linked to premature ovarian failure and tremor-ataxia syndrome. FMR1 gene encodes a widely expressed protein regulating mRNA translation. FMR1 gene controls brain development and neurogenesis. FXS is associated with brain and synaptic morphology anomalies.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.012 | 0.003 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".