Joana Carvalho

ORCID: 0000-0001-9743-438X
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About
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Research Areas
  • Wnt/β-catenin signaling in development and cancer
  • Cancer-related gene regulation
  • MicroRNA in disease regulation
  • Cancer Cells and Metastasis
  • Genetic factors in colorectal cancer
  • Extracellular vesicles in disease
  • Helicobacter pylori-related gastroenterology studies
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Ubiquitin and proteasome pathways
  • RNA Research and Splicing
  • Cancer Immunotherapy and Biomarkers
  • Synthesis and Biological Evaluation
  • Cancer Research and Treatments
  • Circular RNAs in diseases
  • Cancer-related molecular mechanisms research
  • Protein Kinase Regulation and GTPase Signaling
  • Hedgehog Signaling Pathway Studies
  • Genomics and Chromatin Dynamics
  • Gastric Cancer Management and Outcomes
  • Nanoplatforms for cancer theranostics
  • Fibroblast Growth Factor Research
  • Inflammatory mediators and NSAID effects
  • Melanoma and MAPK Pathways
  • Digestive system and related health

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2015-2025

Universidade do Porto
2014-2025

IPO Porto
2021-2024

Universidade Nova de Lisboa
2024

Research Institute for Innovation and Technology
2024

Duke University
2023

Institute of Molecular Pathology and Pathomorphology
2016-2020

Hospital de Egas Moniz
2020

Azienda Ospedaliera Universitaria Senese
2013

University of Siena
2013

In the past decade, extracellular vesicles (EVs) have been recognized as potent vehicles of intercellular communication, both in prokaryotes and eukaryotes. This is due to their capacity transfer proteins, lipids nucleic acids, thereby influencing various physiological pathological functions recipient parent cells. While intensive investigation has targeted role EVs different processes, for example, cancer autoimmune diseases, EV-mediated maintenance homeostasis regulation remained less...

10.3402/jev.v4.27066 article EN cc-by-nc Journal of Extracellular Vesicles 2015-01-01

<h3>Importance</h3> E-cadherin (<i>CDH1</i>) is a cancer predisposition gene mutated in families meeting clinically defined hereditary diffuse gastric (HDGC). Reliable estimates of risk and spectrum germline mutation carriers are essential for management. For without<i>CDH1</i>mutations, genetic-based stratification has not been possible, resulting limited clinical options. <h3>Objectives</h3> To derive accurate breast risks in<i>CDH1</i>mutation determine if mutations other genes associated...

10.1001/jamaoncol.2014.168 article EN JAMA Oncology 2015-02-12

Purpose The prognosis of gastric cancer (GC) is poor, and the molecular pathogenesis players are vastly unknown. Surgery remains primary option in GC treatment. aim this study was to investigate impact somatic CDH1 alterations survival patients with GC. Patients Methods A series sporadic familial (diffuse intestinal; n = 246) were analyzed for mutations, promoter hypermethylation, loss heterozygosity (LOH) by polymerase chain reaction sequencing. E-cadherin protein expression determined...

10.1200/jco.2012.44.4612 article EN Journal of Clinical Oncology 2013-01-23

Abstract E‐cadherin expression disruption is commonly observed in metastatic epithelial cancers and a crucial step gastric cancer (GC) initiation progression. As aberrant of microRNAs often perturb the normal expression/function pivotal cancer‐related genes, we characterized dissected pathway that causes dysfunction via loss microRNA‐101 up‐regulation EZH2 GC. MicroRNA microarray profiling array‐CGH were used to reinforce miR‐101 involvement By using quantitative real‐time PCR SNaPshot...

10.1002/path.4032 article EN The Journal of Pathology 2012-03-27

The success of malignant tumors is conditioned by the intercellular communication between tumor cells and their microenvironment, with extracellular vesicles (EVs) acting as main mediators. While value 3D conditions to study well established, impact cellular architecture on EV content function not investigated yet. Here, a recently developed cell culture microwell array adapted for production comprehensive comparative analysis biochemical features, RNA proteomic profiles EVs secreted 2D vs...

10.1002/advs.201800948 article EN cc-by Advanced Science 2018-12-20

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility syndrome characterized by early-onset (DGC) and lobular breast cancer. E-cadherin (CDH1) heterozygous germline mutations deletions are found in 40% of families. Independent CDH1 alterations, most HDGC tumours display mislocalized or absent immunoexpression, therefore undetected defects at the locus may still be involved. We aimed determining whether mutation-negative probands allele-specific expression (ASE)...

10.1093/hmg/ddp537 article EN Human Molecular Genetics 2009-12-04

Deregulation of tRNAs, aminoacyl-tRNA synthetases and tRNA modifying enzymes are common in cancer, raising the hypothesis that protein synthesis efficiency accuracy (mistranslation) compromised tumors. We show here human colon tumors xenograft produced mice by two epithelial cancer cell lines mistranslate 2- to 4-fold more frequently than normal tissue. To clarify if mistranslation plays a role tumor biology, we expressed mutant Ser-tRNAs misincorporate Ser-at-Ala (frequent error) Ser-at-Leu...

10.1080/15476286.2018.1454244 article EN RNA Biology 2018-03-20

Background Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset disease spectrum 50 FIGC families searched for genetic causes potentially underlying a monogenic or an oligogenic/polygenic inheritance pattern. Methods Normal tumour DNA from probands were sequenced using Illumina custom panels on MiSeq, their respective germline somatic landscapes compared with corresponding sporadic (SIGC)...

10.1136/jmedgenet-2019-106346 article EN Journal of Medical Genetics 2020-02-17

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with an average age-of-onset of ∼60 years and usually fatal within 2-5 diagnosis. Mouse models based upon single gene mutations do not recapitulate all ALS pathological features. Environmental insults may also contribute to ALS, β-N-methylamino-L-alanine (BMAA) environmental toxin linked increased risk developing ALS. BMAA, along cycasin, are hypothesized be the cause Guam-ALS epicenter 1950s. We developed multihit model on...

10.1016/j.neurobiolaging.2023.02.010 article EN cc-by-nc-nd Neurobiology of Aging 2023-02-23

O presente estudo teve como objetivo analisar o papel do enfermeiro na prevenção e controle câncer colo útero (CCU), identificando suas principais ações estratégias de atuação. Trata-se uma pesquisa bibliográfica, fundamentada análise dados extraídos artigos científicos disponíveis Biblioteca Virtual em Saúde, publicados entre 2015 março 2025. A seleção seguiram protocolo PRISMA. Foram inicialmente identificados 48 estudos, dos quais 5 atenderam aos critérios inclusão compuseram a base da...

10.51891/rease.v11i4.18765 article PT Revista Ibero-Americana de Humanidades, Ciências e Educação 2025-04-16

Abstract Dies1/VISTA induces embryonic stem-cell differentiation, via BMP-pathway, but also acts as inflammation regulator and immune-response modulator. Dies1 inhibition in a melanoma-mouse model led to increased tumour-infiltrating T-cells decreased tumour growth, emphasizing relevance tumour-microenvironment. is involved cell de/differentiation, cancer processes, which mimic those associated with Epithelial-to-Mesenchymal-Transition (EMT). Despite this axis linking EMT cancer, its...

10.1038/srep34860 article EN cc-by Scientific Reports 2016-10-10

Background: Epstein-Barr Virus (EBV) positive and microsatellite unstable (MSI-high) gastric cancer (GC) are molecular subgroups with distinctive profiles. We explored the transcriptomic differences between EBV+ MSI-high GCs, expression of current GC immunotherapy targets such as PD-1, PD-L1, CTLA4 Dies1/VISTA. Methods: Using Nanostring Technology comparative bioinformatics, we analyzed 499 genes in 46 classified either EBV (EBER situ hybridization) or (PCR/fragment analysis). PD-L1 protein...

10.3390/ijms19072079 article EN International Journal of Molecular Sciences 2018-07-17

Disruption of E-cadherin (CDH1 gene) expression, subcellular localization or function arises during initiation and progression almost 90% all epithelial carcinomas. Nevertheless, the mechanisms through which this occurs are largely unknown. Previous studies showed importance CDH1 intron 2 sequences for proper gene protein supporting these as cis-modulators. Through RACE RT-PCR, we searched transcription events arising from discovered several new transcripts. One, named CDH1a, with high...

10.1093/hmg/dds248 article EN Human Molecular Genetics 2012-06-29
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