A5041316627- Cancer, Hypoxia, and Metabolism
- Fibroblast Growth Factor Research
- Epigenetics and DNA Methylation
- Parkinson's Disease Mechanisms and Treatments
- Ion Transport and Channel Regulation
- Genetics and Neurodevelopmental Disorders
- Skin and Cellular Biology Research
- Congenital Diaphragmatic Hernia Studies
- Connective Tissue Growth Factor Research
- Renal and related cancers
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Erythropoietin and Anemia Treatment
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Genomics and Rare Diseases
- Protein Tyrosine Phosphatases
- BRCA gene mutations in cancer
- Cancer-related Molecular Pathways
- Wnt/β-catenin signaling in development and cancer
- Cancer-related gene regulation
- RNA modifications and cancer
- RNA regulation and disease
- Glycogen Storage Diseases and Myoclonus
- Adipose Tissue and Metabolism
Hospital del Mar Research Institute
2023-2024
Universitat Pompeu Fabra
2023
Hospital Del Mar
2021
Hospital Universitario Virgen del Rocío
2011-2020
Instituto de Biomedicina de Sevilla
2011-2020
Universidad de Sevilla
2011-2020
University Hospital of Zurich
2019
University of Zurich
2011-2019
RELX Group (United States)
2019
Swiss Integrative Center for Human Health
2014
Aquaporin-1 (AQP1) is a water channel that highly expressed in tissues with rapid O2 transport. It has been reported this protein contributes to gas permeation (CO2, NO and O2) through the plasma membrane. We show hypoxia increases Aqp1 mRNA levels tissues, namely mouse brain lung, cultured cells, 9L glioma cell line. Stopped-flow light-scattering experiments confirmed an increase permeability of cells exposed hypoxia, supporting view hypoxic up-regulation functional role. To investigate...
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome always unfavorable, onset symptoms and progression may vary. We aimed to identify modifier genes that contribute clinical course patients EPM2A or EPM2B mutations. established a list 43 coding for proteins related laforin/malin function and/or glycogen metabolism tested common polymorphisms possible associations phenotypic differences using collection families....
Activation of macrophages and overexpression TNFα is associated with the pathogenesis chronic inflammatory diseases. However, mechanisms leading to are still unknown. 5-methylocytosine (5-mC) an epigenetic modification that silenced genes. Recent studies showed it converted 5-hydroxylmethylocytosine (5-hmC) reactivates gene expression through action family Ten-Eleven-Translocation (TET1-3) enzymes. In this study, we show 5-hmC levels increased globally specifically in promoter during...
Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim this study was to assess the contribution several genes pathophysiology early onset in a cohort from central Spain.We analyzed 117 unrelated patients with using pipeline, based on combination next-generation sequencing panel 17 previously related other Parkinsonisms CNV screening.Twenty-six (22.22%) carried likely pathogenic variants PARK2, LRRK2, PINK1, or GBA. gene most frequently mutated...
Hypoxia and the hypoxia-inducible factor (HIF) signaling pathway trigger expression of several genes involved in cancer progression resistance to therapy. Transcriptionally active HIF-1 HIF-2 regulate overlapping sets target genes, only few specific are known so far. Here we investigated oxygen-regulated Wnt-1 induced protein 2 (WISP-2), which has been reported attenuate breast cancer. WISP-2 was hypoxically low-invasive luminal-like cell lines at both messenger RNA levels, mainly a...
Few cases of isolated (nonsyndromic, nonendocrinopathy) familial acanthosis nigricans (FAN) have been described, and most not included genetic testing. We present a three-generation family with FAN, whose study revealed heterozygous FGFR3 gene variant [NM_0001425: c.2302G>T; p.(Glu768Ter); E768X]. propose mechanisms that could explain the pro-mitogenic effect on skin without bone involvement spectrum clinical manifestations associated germline mutations.