- Renal cell carcinoma treatment
- Renal and related cancers
- Sexual Differentiation and Disorders
- Cancer Mechanisms and Therapy
- Hormonal Regulation and Hypertension
- Renal Diseases and Glomerulopathies
- Estrogen and related hormone effects
- Chronic Kidney Disease and Diabetes
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal Transplantation Outcomes and Treatments
- Signaling Pathways in Disease
- Birth, Development, and Health
- Dialysis and Renal Disease Management
- Biomedical Research and Pathophysiology
- Galectins and Cancer Biology
- Adenosine and Purinergic Signaling
- Hormonal and reproductive studies
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Adipose Tissue and Metabolism
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Renin-Angiotensin System Studies
- Cytokine Signaling Pathways and Interactions
- Mitochondrial Function and Pathology
- Magnesium in Health and Disease
Universitat Autònoma de Barcelona
2013-2024
Vall d'Hebron Institut de Recerca
2010-2024
CIBBIM-Nanomedicine
2011-2023
Vall d'Hebron Hospital Universitari
1998-2023
Universitat Pompeu Fabra
2022
Federación Española de Enfermedades Raras
2018-2021
Instituto de Salud Carlos III
2020-2021
Fundación Renal
2011-2019
Universidad de Murcia
2016
Universidad de Salamanca
2009
The scratch assay is an in vitro technique used to assess the contribution of molecular and cellular mechanisms cell migration. can also be evaluate therapeutic compounds before clinical use. Current quantification methods assays deal poorly with irregular cell-free areas crooked leading edges which are features typically present experimental data. We introduce a new migration method, called ‘monolayer edge velocimetry’, that permits analysis low-quality data better statistical...
Renal cell carcinoma (RCC), the third most prevalent urological cancer, claims more than 100,000 lives/year worldwide. The clear variant (ccRCC) is common and aggressive subtype of this disease. While commonly asymptomatic, 30% ccRCC are diagnosed when already metastatic, resulting in a 95% mortality rate. Notably, nearly one-third organ-confined cancers treated by nephrectomy develop metastasis during follow-up care. At present, diagnostic prognostic biomarkers to screen, diagnose, monitor...
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an ultra-rare autosomal recessive renal tubular disease incidence of <1/1.000.000 individuals, caused by loss-of-function mutations in CLDN16 CLDN19 . Our study includes a unique cohort representing all known FHHNC patients Spain, 90% harbouring Of these, 70% carry the p.G20D mutation homozygosis. Despite this high genetic homogeneity, our display phenotypic variability, even among siblings identical mutations....
Tubulointerstitial fibrosis is the common pathological substrate for many etiologies leading to chronic kidney disease. Although perturbations in circadian rhythm have been associated with renal disease, role of molecular clock pathogenesis remains incompletely understood. We investigated relationship between and damage experimental models injury (unilateral ureteral obstruction, folic acid, adenine nephrotoxicity), using genetically modified mice selective deficiencies components Bmal1,...
In 2001, the authors described clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using genome-wide screen with more than 400 microsatellite markers, identified novel disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, <i>filamin C</i>, gene encoding actin binding protein highly expressed in muscle, was an obvious candidate gene; however, did not detect any defects C</i> or its product.
Kidney androgen-regulated protein (KAP) mRNA represents the most abundant [approximately 4% of total poly(A) RNA] species that is induced by androgens in mouse kidney. Comparison expression several mRNAs this tissue, revealed were differentially regulated hormone. KAP exhibited unusual sensitivity to low concentrations androgen-receptor complex. Because its characteristics, it was interest determine what cells kidney being produced. Using technique situ hybridization with single stranded RNA...
Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis-nephrocalcinosis, progressive chronic kidney (CKD) and failure (KF). Current management symptomatic does not prevent progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs.A physician-based anonymous international e-survey supported...
Renal cell carcinoma (RCC) comprises 85% of renal tumors and displays a great capacity to metastasize. The lack diagnostic prognostic markers complicates its early detection in the majority cases metastases are present at time diagnosis.The current study reports on identification differentially expressed genes RCC using random arbitrarily primed polymerase chain reaction (RAP-PCR).Four were identified, including glyceraldehyde-3-phosphate dehydrogenase (GAPDH), lactate A (LDH A), human...
Mutations in the thymidine kinase 2 (<i>TK2</i>) gene cause a myopathic form of mitochondrial DNA depletion syndrome (MDS). Here, authors report unusual clinical, biochemical, and molecular findings 14-year-old patient whom pathogenic mutations were identified <i>TK2</i> gene. This extends phenotypic expression primary TK2 deficiency suggests that factors other than may modify clinical phenotype patients with MDS syndrome.
Background— Kidney androgen-regulated protein (KAP), a proximal tubule gene, codes for of unknown function. Methods and Results— To investigate the consequences KAP overexpression in kidney, we produced transgenic mice performed microarray expression analyses kidneys control males. Downregulation androgen-sensitive Cyp4A14 monooxygenase gene prompted us to analyze blood pressure levels, observed that were hypertensive. Inhibition 20-hydroxyeicosatetraenoic acid synthesis by N -hydroxy- ′-(4-...
Background. The use of cyclosporine A (CsA) as a potent immunosuppressant has been limited by its severe nephrotoxic effects. mechanisms involved are haemodynamic but also related to direct toxic effects CsA on proximal tubule epithelial cells. We focused defining proteomic profile in CsA-treated cells distinguish the impact these from overlapping haemodynamically mediated phenomena that occur an vivo system. Methods. By means high-throughput differential analyses and mass spectrometry...
The signal transducer and activator of transcription 3 (STAT3) is a factor mainly activated by phosphorylation in either tyrosine 705 (Y705) or serine 727 (S727) residues that regulates essential processes such as cell differentiation, apoptosis inhibition, survival. Aberrant activation STAT3 has been related to development nearly 50% human cancers including clear renal carcinoma (ccRCC). In fact, phosho-S727 (pS727) levels correlate with overall survival ccRCC patients. With the aim...
P450 aromatase activity increases with age in adipose tissue. Increased oestrogen production has also been observed obese elderly women, and related to the pathogenesis of endometrial cancer. Since peripheral requires presence androgenic metabolites, a recent report from our laboratory showed very low expression levels P450c17 mRNA most postmenopausal ovaries analysed, we hypothesised on existence an alternative source androgens. steroidogenic enzymes, such as 3beta-hydroxysteroid...
Kidney androgen-regulated protein (KAP) gene expression is under androgenic control in the epithelial cells of proximal convoluted tubule mouse kidney. In Tfm/Y androgen receptor-deficient mice, KAP mRNA was detected by situ hybridization a subpopulation these only S3 segment tubules outer medulla. Treatment animals with testosterone caused partial induction levels, while dihydrotestosterone had no effect. These data suggested that receptor-independent mediated an estrogenic metabolite...
Abstract Apolipoprotein A-Ib (ApoA-Ib) is a high molecular weight form of A-I (ApoA-I) found specifically in the urine kidney-transplanted patients with recurrent idiopathic focal segmental glomerulosclerosis (FSGS). To determine nature modification present ApoA-Ib, we sequenced whole APOA1 gene ApoA-Ib positive and negative patients, also studied protein primary structure using mass spectrometry. No genetic variations were that could explain increase its mass. The spectrometry analysis...
The molecular nature of tissue-specific gene regulation by androgens has not been well defined, partly as a result the variable expression and incomplete currently available models.We have therefore aimed to establish more informative models identifying alternative genes whose is tightly coordinately regulated androgens.Female C57BL/6 mice were dosed with dihydrotestosterone-or sham-treated for 8 days, after which kidneys removed complementary DNA (cDNA) prepared.We then applied subtractive...
Kidney androgen-regulated protein (KAP) mRNA is an abundant renal that was originally identified by comparisons of the products in vitro translation poly(A) RNA from animals before and after androgen stimulation. KAP 607 nucleotides long, excluding its segment, encodes a 13,265 mol wt. A hydrophobic N-terminal domain forms putative signal peptide 18 amino acids, cleavage which results 103-amino acid mature with molecular size 11,297. The highly negatively charged contains regions clustered...