A5046451927- Genomics and Rare Diseases
- Cancer-related gene regulation
- Complement system in diseases
- Gene expression and cancer classification
- CRISPR and Genetic Engineering
- Wnt/β-catenin signaling in development and cancer
- Genomics and Phylogenetic Studies
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Chromatin Dynamics
- Bacterial Infections and Vaccines
- Cancer Genomics and Diagnostics
- Clinical practice guidelines implementation
- RNA and protein synthesis mechanisms
- Burkholderia infections and melioidosis
- Mosquito-borne diseases and control
- Biomedical Text Mining and Ontologies
- Meta-analysis and systematic reviews
- Bioinformatics and Genomic Networks
- HIV Research and Treatment
- Machine Learning in Healthcare
Oncode Institute
2019-2020
University Medical Center Utrecht
2020
Vall d'Hebron Institut de Recerca
2019
Universitat Autònoma de Barcelona
2019
UNSW Sydney
2017
Wnt/b-catenin signaling is a primary pathway for stem cell maintenance during tissue renewal and frequent target mutations in cancer.Impaired Wnt receptor endocytosis due to loss of the ubiquitin ligase RNF43 gives rise Wnt-hypersensitive tumors that are susceptible anti-Wnt-based therapy.Contrary this paradigm, we identify class truncating cancer induce b-catenin-mediated transcription, despite exhibiting retained downregulation.These interfere with ubiquitin-independent suppressor role...
CD4 T cells are important cellular targets for HIV-1, yet the primary site of HIV fusion remains unresolved. Candidate sites either plasma membrane or from within endosomes. One area investigation compounding controversy this field, is role protein dynamin in life cycle. To understand we combined inhibition with a series complementary assays based on single particle tracking, fusion, detection DNA products and active viral transcription. We identify 3 levels influence Firstly, influences...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged a standard clinical practice is helping countless women better understand manage their heritable risk of breast ovarian cancer. Yet the increased rate BRCA1/2 testing led an increasing number Variants Uncertain Significance (VUS), VUS discovery currently outpaces variant interpretation. Computational prediction key component interpretation pipeline. In CAGI5 ENIGMA Challenge, six teams submitted...
BRCA1 and BRCA2 (BRCA1/2) germline variants disrupting the DNA protective role of these genes increase risk hereditary breast ovarian cancers. Correct identification then becomes clinically relevant, because it may survival rates carriers. Unfortunately, we are still unable to systematically predict impact BRCA1/2 variants. In this article, present a family in silico predictors that address problem, using gene-specific approach. For each protein, have developed two tools, aimed at predicting...
Wnt/β-catenin signalling is a primary pathway for stem cell maintenance during tissue renewal and frequent target mutations in cancer. Impaired Wnt receptor endocytosis due to loss of the ubiquitin ligase RNF43 gives rise Wnt-hypersensitive tumours that are susceptible anti-Wnt-based therapy. Contrary this paradigm, we identify class truncating cancer strongly induce β-catenin-mediated transcription, despite exhibiting retained downregulating activity. Mechanistically, these mutants trap...