Ara mostrant els elements 1-20 de 234
Barranco Bartolomé, Paula (Data de defensa: 2024-05-24)
[spa] La Fibrosis Quística (FQ) es una enfermedad autosómica recesiva causada por variantes patogénicas en el gen Cystic Fibrosis Transmembrane Regulator (CFTR). La proteína resultante, también llamada CFTR, se expresa en ...
Aguado Flor, Ester (Data de defensa: 2024-04-12)
[eng] During radiotherapy (RT) some healthy tissues are irradiated inevitably causing side effects, without being able to predict nowadays which patients will develop this toxicity. To date, the biomarker with the best ...
Ramponi, Valentina (Data de defensa: 2024-03-15)
[eng] Anti-cancer therapies are based on the infliction of damage or stress to cancer cells, with the aim of triggering cell death. In practice, a fraction of cancer cells often evades cell death and enters a state of cell ...
Lledós i de Benito, Miquel (Data de defensa: 2024-03-15)
[spa] Esta tesis investiga la asociación de la microbiota intestinal con el ictus isquémico. Se reclutaron un total de 340 pacientes con ictus, de los cuales se analizó una muestra fecal para obtener un perfil taxonómico ...
Creus Bachiller, Edgar (Data de defensa: 2024-03-13)
[eng] Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive soft-tissue sarcomas. They usually appear in the clinical context of Neurofibromatosis type 1 (NF1), however, they also occur at a low frequency in the ...
Bartomeu i Galan, Anna (Data de defensa: 2024-01-29)
[eng] Cytoplasmic Polyadenylation Element Binding proteins (CPEBs) are a family of RNA-binding proteins that regulate cytoplasmic changes in poly(A) tail lengh and therefore mRNA-specific stability and translation. Since ...
Trujillano Fernández, Alejandro (Data de defensa: 2024-02-08)
[eng] DYRK1A is a kinase that is expressed in virtually all tissues and cell types and is implicated in human diseases. Several studies indicate that DYRK1A is a dose-dependent gene with a prevalent function in brain ...
Calvo Serrano, Isabel (Data de defensa: 2024-02-16)
[eng] Our understanding of the transcriptional control of cellular identity is rapidly emerging. Mediator complex enriches at active enhancers, forms a protein bridge to target genes, and recruits RNA Polymerase II ...
Salvadores Ferreiro, Marina (Data de defensa: 2024-01-18)
[eng] Mutations exhibit an uneven distribution across the human genome, with a regional mutation density (RMD) influenced by chromatin landscapes and replication timing. While there is a good understanding of this variation, ...
Qualai, Jamal (Data de defensa: 2023-12-04)
[eng] Common sexually transmitted infections like gonorrhea, Chlamydia, syphilis, and trichomoniasis are the leading cause of morbidity in developing countries. Adolescents and young women have the highest rates of STIs ...
Xiol Viñas, Clara (Data de defensa: 2023-12-22)
[eng] Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by a regression in acquired skills, such as purposeful hand use and language, after an apparently normal early development. RTT affects ...
Özkan, Selen (Data de defensa: 2023-12-01)
[eng] Precision medicine aims to provide personalized patient care using genetic data. However, interpreting the phenotypic consequences of genetic variants remains a bottleneck in both clinical and research settings. ...
Molina Jordán, Marc (Data de defensa: 2023-12-04)
[eng] The application of mechanical force to the nucleus has been recently shown to regulate important functions, including nucleocytoplasmic transport (NCT), chromatin organization, and gene expression. However, how ...
Schikora Tamarit, Miquel Àngel (Data de defensa: 2023-11-03)
[eng] Fungal infections pose a serious health threat, affecting >1,000 million people and causing ~1.5 million deaths each year. The problem is growing due to insufficient diagnostic and therapeutic options, increased ...
Doria Belenguer, Sergio (Data de defensa: 2023-10-07)
[eng] Advances in capturing technologies have yielded a massive production of large-scale molecular data that describe different aspects of cellular functioning. These data are often modeled as networks, in which nodes are ...
Ruiz Serra, Victoria Isabel (Data de defensa: 2023-11-08)
[eng] Proteins are fundamental building blocks of life, and understanding their structure and function is crucial for many fields of science, from drug discovery to bioengineering. Traditional experimental methods for ...
Giroud-Gernetant Deus, Judith (Data de defensa: 2023-11-20)
[eng] Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which encodes the y+LAT1 transporter. LPI presents a pleiotropic phenotype that varies among patients, ...
Vilar Ribó, Laura (Data de defensa: 2023-11-20)
[eng] Substance use disorders (SUDs) are psychiatric disorders characterized by a recurring desire to continue taking a substance regardless of its destructive consequences. The etiology of SUDs is complex and multifactorial, ...
Muñoz Pujol, Gerard (Data de defensa: 2023-11-23)
[cat] Les malalties metabòliques hereditàries (MMH) són un grup de patologies amb una gran heterogeneïtat clínica, bioquímica i genètica. Actualment se n’han descrit més de 1 800. En l’última dècada la implementació de ...
Mendoza Blanco, Mónica (Data de defensa: 2023-11-24)
[eng] Neurons are highly polarized cells that require protein synthesis in distal dendrites to fulfil local protein requirements on short timescales. The regulation of this process relies in two major sub processes: the ...