Universitat de Barcelona
Ara mostrant els elements 1-18 de 18
La hibridació in situ fluorescent, o FISH, és una tècnica molecular que s'utilitza en la rutina clínica pel diagnòstic i l'estratificació de diferents neoplàsies. En els estudis d'aquesta tesi s'ha observat que en neoplàsies ...
[eng] Over the last decade, a common driver of genetic brain disorders that has emerged is the alteration of lipid metabolism. In this thesis, we sought to gain an understanding of the pathomechanisms underlying genetic ...
[cat] L'acidúria glutàrica tipus I (GA-I) és un trastorn metabòlic hereditari poc comú a les vies catabòliques de la lisina, la hidroxilisina i el triptòfan. És causada per la deficiència de glutaril-CoA deshidrogenasa ...
[eng] T cells expressing chimeric antigen receptors (CAR-T) targeting the CD19 antigen have been proven to be one of the most promising treatments for B cell neoplasms. However, CAR-T therapy presents certain limitations, ...
[eng] X-linked adrenoleukodystrophy (X-ALD) is a rare and devastating neurodegenerative disorder characterized by inflammatory demyelination of the brain and/or axonal degeneration in the spinal cord. This arises from a ...
[eng] Contrasting the traditional idea of the male gamete being a simple carrier of the paternal DNA, evidence in the last decades revealed that the sperm cell provides the embryo with different layers of epigenetic ...
[cat] INTRODUCCIÓ: Les malalties metabòliques hereditàries {MMH) constitueixen un ampli grup de malalties minoritàries caracteritzades per una gran heterogeneïtat clínica, bioquímica i genètica. Aquesta diversitat fa ...
[eng] Adoptive T cell transfer (ACT) therapy designed to express chimeric antigen receptors (CARs) has produced impressive clinical responses in certain cancer patients. Together with immune checkpoint blockade therapy, ...
La tesi doctoral es centra en la generació i caracterització de les cèl·lules estrellades hepàtiques derivades de cèl·lules mare pluripotents induïdes (iPSCs), anomenades com iPSC-HSCs, pel modelatge in vitro de les malalties ...
[eng] Haematopoiesis is a tightly regulated, hierarchical process continuously required to produce all mature blood cells and platelets. This process takes place within the bone marrow (BM) where hematopoietic stem cells ...
[eng] Cystinuria, with a worldwide prevalence estimated at 1:7000, is a rare inherited disease characterized by urine hyperexcretion of cystine and dibasic amino acids. Its clinical manifestation is cystine lithiasis in ...
L'edat avançada o altres comorbiditats no permeten predir amb exactitud quins pacients infectats per SARS-CoV-2 progressaran als estadis més greus de la COVID-19. Calen noves eines que ens permetin entendre millor la gran ...
[eng] Immune cell differentiation and activation are associated with widespread DNA methylation changes; however, the causal relationship between these changes and their impact in shaping cell fate decisions still needs ...
[spa] La expresión genética es un proceso celular clave, que además está relacionado con la susceptibilidad genética a enfermedades y rasgos complejos. La mayoría de genes se someten a splicing alternativo (AS). Las variantes ...
[eng] Most of our genome encodes for RNA that is not translated into proteins in some cell type or at some developmental time-point resulting in non-coding RNA (ncRNA). Long non-coding RNA (lncRNA) emerged as a critical ...
[eng] Adult zebrafish (Danio rerio), in contrast to mammals, can efficiently regenerate large portions of the heart after experimental damage or amputation. This process has been extensively studied we are beginning to ...
[eng] Regulatory cells are essential to immune homeostasis. Both autoimmune diseases and the progression of cancer are related to alterations in the development and/or function of the regulatory compartment. In addition ...
[cat] El càncer colorectal (CCR) representa una de les neoplàsies amb major incidència i mortalitat a escala global. Per aquest motiu els sistemes nacionals de salut europeus han posat en marxa programes de cribratge ...
