Evidence map›Paper›PMID 40491567›Full record

ArticleFrontiers in genetics2025

Uncovering codon usage patterns during murine embryogenesis and tissue-specific developmental diseases.

Sarah E Fumagalli, Sean Smith, Brian Lin, Rahul Paul, Collin Campbell, Luis Santana-Quintero, Anton Golikov, Juan Ibla, Haim Bar, Anton A Komar and 3 more

Abstract read
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Sarah E Fumagalli *Hemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research (CBER), Food and Drug Administration (FDA), Silver Spring, MD, United States.
Sean Smith *High-performance Integrated Virtual Environment (HIVE), Office of Biostatistics and Pharmacovigilance (OBPV), Center for Biologics Evaluation and Research (CBER), US Food and Drug Administration (FDA), Silver Spring, MD, United States.
Brian LinHemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research (CBER), Food and Drug Administration (FDA), Silver Spring, MD, United States.
Rahul PaulHigh-performance Integrated Virtual Environment (HIVE), Office of Biostatistics and Pharmacovigilance (OBPV), Center for Biologics Evaluation and Research (CBER), US Food and Drug Administration (FDA), Silver Spring, MD, United States.
Collin CampbellHigh-performance Integrated Virtual Environment (HIVE), Office of Biostatistics and Pharmacovigilance (OBPV), Center for Biologics Evaluation and Research (CBER), US Food and Drug Administration (FDA), Silver Spring, MD, United States.
Luis Santana-QuinteroHigh-performance Integrated Virtual Environment (HIVE), Office of Biostatistics and Pharmacovigilance (OBPV), Center for Biologics Evaluation and Research (CBER), US Food and Drug Administration (FDA), Silver Spring, MD, United States.
Anton GolikovHigh-performance Integrated Virtual Environment (HIVE), Office of Biostatistics and Pharmacovigilance (OBPV), Center for Biologics Evaluation and Research (CBER), US Food and Drug Administration (FDA), Silver Spring, MD, United States.
Juan IblaDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
Haim BarDepartment of Statistics, University of Connecticut, Storrs, CT, United States.
Anton A KomarCenter for Gene Regulation in Health and Disease, Department of Biological, Geological and Environmental Sciences, Cleveland State University, Cleveland, OH, United States.
Ryan C HuntHemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research (CBER), Food and Drug Administration (FDA), Silver Spring, MD, United States.
Michael DiCuccioIndependent Researcher, Rockville, MD, United States.
Chava Kimchi-SarfatyHemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research (CBER), Food and Drug Administration (FDA), Silver Spring, MD, United States.

Funding

Safer and more effective FIX therapeutics: impact of codon optimizationR01HL151392 · NHLBI · CLEVELAND STATE UNIVERSITY · PI KOMAR, ANTON A. · 2020 to 2023
$1.5M
NHLBI NIH HHS R01 HL151392
6 · The paper itself

Abstract

Introduction: Mouse models share significant genetic similarities with humans and have expanded our understanding of how embryonic tissue-specific genes influence disease states. By improved analyses of temporal, transcriptional data from these models, we can capture unique tissue codon usage patterns and determine how deviations from these patterns can influence developmental disorders. Methods: We analyzed transcriptomic-weighted data from four mouse strains across three different germ layer tissues (liver, heart, and eye) and through embryonic stages. Applying a multifaceted approach, we calculated relative synonymous codon usage, reduced the dimensionality, and employed machine learning clustering techniques. Results and discussion: These techniques identified relative synonymous codon usage differences/similarities among strains and deviations in codon usage patterns between healthy and disease-linked genes. Original transcriptomic mouse data and RefSeq gene sequences can be found at the associated Mouse Embryo CoCoPUTs (codon and codon pair usage tables) website. Future studies can leverage this resource to uncover further insights into the dynamics of embryonic development and the corresponding codon usage biases that are paramount to understanding disease processes of embryologic origin.

Indexed as

clustering methodsdisease-associated comparisonmachine learningmouse embryologyrelative synonymous codon usagetissue-specifictranscriptomic-weighted

Identifiers

PMID40491567
PMCPMC12146342

What Socratic holds

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LicenceCC BY
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Registered trials

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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.