Utilising Next‐Generation Sequencing to Explore the Molecular Etiology of Short Root Anomaly
Bibliographic record
Abstract
OBJECTIVE: Short Root Anomaly (SRA) is a genetic dental disorder affecting tooth root development. The affected teeth have abnormally short roots and significantly reduced root to crown ratios. The aim of this study was to determine the mode of inheritance and the molecular aetiology of SRA in identified Hispanic families. METHODS: Dental history was taken from 5 Hispanic families. SRA diagnosis was based on 1:1.1 C:R ratios. Whole saliva was collected from eight SRA-affected and five unaffected family members with informed consent. DNA was extracted and processed for whole exome sequencing (WES). Gene mutations associated with SRA were confirmed by Sanger sequencing. Gene expression in dental cells was examined by qRT PCR, and protein localisation was determined by immunocytochemistry. Chromatin immunoprecipitation (ChIP) assay was used to confirm gene regulation. RESULTS: SRA exhibited an autosomal dominant pattern of inheritance in three of the five families examined. The other two families may represent a recessive trait or de novo mutations. WES analysis identified a rare mutation (rs138075877) in the H1C gene of the affected individuals from two of the AD SRA families exhibiting a localised SRA phenotype. We found this gene was differentially expressed in dental mesenchymal and epithelial cells. Finally, ChIP showed that H1C is directly regulated by a root master gene NFIC. CONCLUSION: Our data demonstrates that a mutation in the H1C gene may have a causal role in AD SRA.
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 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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".