Bibliographic record
Abstract
ABSTRACT: Inborn errors of folate/homocysteine metabolism are rare disorders that lead to a wide variety of developmental, neurological, and vascular complications; this group of disorders (homocystinurias) have been recognized for several decades. More recently, however, common mutations (or polymorphisms) in enzymes of folate metabolism have become identified as potential risk modifiers of several multifactorial disorders including neural tube defects, pregnancy complications, vascular disease, and cancer. The first and best characterized of this group of variants is an alanine‐to‐valine substitution at bp 677 of the enzyme methylenetetrahydrofolate reductase (MTHFR) which synthesizes the folate derivative for homocysteine remethylation to methionine. This variant, present in the homozygous state in 10% ‐ 15% of many North American, European, and Asian populations, results in mild hyperhomocysteinemia predominantly when folate status is low; this observation alludes to an increased requirement for folate in mutant individuals. The clinical impact of this variant, as well as a brief description of other variants in folate/homocysteine metabolism, will be discussed. In more recent work, we generated a mouse model with MTHFR deficiency, in order to address the genetic‐nutrient interactive effect and the biologic consequences of a disruption of folate metabolism. These mice have hyperhomocysteinemia, altered methylation, and enhanced utilization of choline/betaine to increase methionine biosynthesis. In addition, the mice appear to be quite useful as animal models for some of the above‐mentioned clinical 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 distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
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 teacher head, 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".