ArticlebioRxiv : the preprint server for biology2025
Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.
Alejandro Rivera-Madera, Edwin G Peña-Martínez, Jean L Messon-Bird, Diego A Pomales-Matos, Oswaldo L Echevarría-Bonilla, Leandro Sanabria-Alberto, Esther A Peterson-Peguero, José A Rodríguez-Martínez
Abstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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1 · What the graph read from itWhat it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
8 authors.
Alejandro Rivera-MaderaDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.ORCID 0000-0003-0037-4822 Edwin G Peña-MartínezDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.
Jean L Messon-BirdDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.ORCID 0009-0000-3276-1902 Diego A Pomales-MatosDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.
Oswaldo L Echevarría-BonillaDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.
Leandro Sanabria-AlbertoDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.
Esther A Peterson-PegueroDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.
José A Rodríguez-MartínezDepartment of Biology, University of Puerto Rico- Río Piedras Campus, San Juan, PR 00931.ORCID 0000-0002-1191-2887 Funding
SCIENCE AND TECHNOLOGY COMPETENCY & EDUCATION CORE (STCE)P20GM103475 · NIGMS · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI Jose R. Rodriguez-Medina · 2012 to 2026
$52.9MUpgrade Laboratories Facilities at UPR-Rio PiedrasR25GM061151 · NIGMS · UNIVERSITY OF PUERTO RICO RIO PIEDRAS · PI CARBALLEIRA, NESTOR MANUEL · 2001 to 2023
$32.5MIncreasing Diversity in Genomics for the Next generation (IDGeNe)R25HG012702 · NHGRI · UNIVERSITY OF PUERTO RICO RIO PIEDRAS · PI JOSE E GARCIA-ARRARAS · 2022 to 2026
$1.7MUncovering the DNA recognition rules of cardiac transcription factorsSC1GM127231 · NIGMS · UNIVERSITY OF PUERTO RICO RIO PIEDRAS · PI RODRIGUEZ-MARTINEZ, JOSE A · 2018 to 2021
$1.4MU-RISE at University of Puerto Rico at CayeyT34GM145404 · NIGMS · UNIVERSITY OF PR CAYEY UNIVERSITY COLL · PI RESTO, WILFREDO, ROQUE, JOAN · 2023 to 2024
$808kNHGRI NIH HHS R25 HG012702NIGMS NIH HHS P20 GM103475NIGMS NIH HHS R25 GM061151NIGMS NIH HHS SC1 GM127231NIGMS NIH HHS T34 GM145404
6 · The paper itselfAbstract
Missense mutations can alter the biochemical properties of proteins, including stability, structure, and function, potentially contributing to the development of multiple human diseases. Mutations in
Indexed as
DNA-binding affinitymissense mutationsTBX5thermal stabilityTranscription factor
Identifiers
PMID40463096
PMCPMC12132455
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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