Maria Carmo-Fonseca
Overview
Explore the profile of Maria Carmo-Fonseca including associated specialties, affiliations and a list of published articles.
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114
Citations
3521
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Recent Articles
1.
Ventura-Gomes A, Carmo-Fonseca M
J Cell Sci
. 2025 Feb;
138(4).
PMID: 40019352
Properly timed gene expression is essential for all aspects of organismal physiology. Despite significant progress, our understanding of the complex mechanisms governing the dynamics of gene regulation in response to...
2.
3.
Thomas M, Fernandez-Alvarez A, Gimenez M, Corvetto Aristarain F, Cozza L, Pimentel J, et al.
J Cell Sci
. 2025 Feb;
138(5).
PMID: 39925132
Biomolecular condensates (BMCs) emerge as important players in RNA regulation. The RNA-binding protein Smaug forms cytosolic BMCs in mammals, insects and yeasts and affects mitochondrial function and/or responses to nutrient...
4.
Lima B, Pais A, Dupont J, Dias P, Custodio N, Sousa A, et al.
Life Sci Alliance
. 2024 Dec;
8(3.
PMID: 39741007
Variants in the hereditary cancer-associated and genes can alter RNA splicing, producing transcripts that encode internally truncated yet potentially functional proteins. However, few studies have quantitatively analyzed variant-specific splicing isoforms....
5.
Jager J, Ribeiro M, Furtado M, Carvalho T, Syrris P, Lopes L, et al.
Stem Cell Res
. 2024 Oct;
81:103582.
PMID: 39447317
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management...
6.
Ribeiro M, Jager J, Furtado M, Carvalho T, Cabral J, Brito D, et al.
Hum Cell
. 2024 May;
37(4):1205-1214.
PMID: 38762696
Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in the MYPBC3 gene, which encodes the cardiac myosin-binding protein C (cMyBP-C). Most pathogenic variants in MYPBC3 are either nonsense mutations or...
7.
Ribeiro M, Jager J, Furtado M, Carvalho T, Cabral J, Brito D, et al.
Stem Cell Res
. 2024 Feb;
76:103362.
PMID: 38417376
Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk...
8.
Ribeiro M, Martins S, Carvalho T, Furtado M, Sampaio Cabral J, Brito D, et al.
Stem Cell Res
. 2023 Dec;
74:103282.
PMID: 38104429
Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition. HCM patients show left ventricle hypertrophy without any associated loading conditions, being at risk for heart failure and sudden...
9.
Barbosa P, Savisaar R, Carmo-Fonseca M, Fonseca A
Gigascience
. 2023 Oct;
12.
PMID: 37878682
Background: The adoption of whole-genome sequencing in genetic screens has facilitated the detection of genetic variation in the intronic regions of genes, far from annotated splice sites. However, selecting an...
10.