Evidence map›Paper›PMID 40255261›Full record

ArticleIn silico pharmacology2025

Genetic variants in the

Daphany Marah Gorges, Fabíola Branco Filippin-Monteiro

Abstract read
In one paragraph

Article in In silico pharmacology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Daphany Marah GorgesDepartment of Clinical Analysis, Health Sciences Center, Federal University of Santa Catarina, Florianópolis, SC 88040900 Brazil.
Fabíola Branco Filippin-MonteiroDepartment of Clinical Analysis, Health Sciences Center, Federal University of Santa Catarina, Florianópolis, SC 88040900 Brazil.ORCID 0000-0003-4313-1783

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The low-density lipoprotein receptor-related protein 5 (LRP5) plays a pivotal role in bone formation, influencing the proliferation and differentiation of osteoblasts and thereby impacting overall bone mass. Genetic variations stemming from non-synonymous single nucleotide polymorphisms (nsSNPs) within the LRP5 gene can lead to either enhanced or diminished function of the resultant protein, culminating in distinct phenotypic expressions such as osteoporosis-pseudoglioma syndrome (OPPG) and high bone mass (HBM). Through in silico analysis of 17 identified nsSNPs, it was observed that 14 of these variants induced damage at highly conserved sites, resulting in the destabilization of both protein function and structure. Notably, the functional alteration, be it a gain or loss, is primarily dictated by the interaction between the molecule and LRP5, rather than the specific amino acid substitution. This research offers an identification of detrimental nsSNPs within the LRP5 protein and serves as a foundation for population-based investigations into the phenotypic repercussions on a broader scale.

Indexed as

GeneHigh bone massIn silico analysisLRP5Osteoporosis-pseudoglioma syndromeProteinSNPs

Identifiers

PMID40255261
PMCPMC12003225

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.