A novel mutation of the LDL receptor gene leading to familial hypercholesterolemia
Bibliographic record
Abstract
Abstract In China, about 1 million people are expected to suffer from familial hypercholesterolemia (FH), with a similar prevalence of FH to that in Caucasian populations. The mutations underlying FH in China are largely unknown because only a few studies have been conducted. In the present study, DNA sequencing analysis was used to scan the low‐density lipoprotein receptor (LDLR) and ApoB100 genes in a Chinese family with clinically diagnosed FH. The results showed that the proband had abnormal patterns at nucleotide 517 of exon 4 due to a C/T heterozygosity, and at 1757 of exon 12 due to an A/C heterozygosity in the LDLR gene. Two mutations, C152R and S565X, were identified in the LDLR protein of the proband. DNA analysis of other family members showed that the two mutations should be located in different alleles of the proband. By flow cytometry analysis, the p.S565X mutant receptor displays reduced binding and internalization activity (16 and 19%, respectively) compared with the wild‐type receptor. The proband is a compound heterozygote due to the C152R and S565X mutations, which are the possible molecular mechanisms of the etiology of FH in this family.
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 | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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".