A5035783495- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Monoclonal and Polyclonal Antibodies Research
- Immunotherapy and Immune Responses
- Glycosylation and Glycoproteins Research
- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- Genomic variations and chromosomal abnormalities
- Amino Acid Enzymes and Metabolism
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Neonatal Health and Biochemistry
- Cell Adhesion Molecules Research
- BRCA gene mutations in cancer
- Biomedical Research and Pathophysiology
- Protein purification and stability
- Vascular Tumors and Angiosarcomas
- Folate and B Vitamins Research
- RNA Interference and Gene Delivery
- Bladder and Urothelial Cancer Treatments
- Muscle Physiology and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Chromosomal and Genetic Variations
- NF-κB Signaling Pathways
- Cancer Immunotherapy and Biomarkers
Hospital Universitario Virgen de las Nieves
1999-2023
Universidad de Granada
1991-2013
Mayo Clinic in Arizona
1993
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla extra-adrenal paraganglia, respectively. The dysfunction of genes involved in cellular response to hypoxia, such as VHL, EGL nine homolog 1, succinate dehydrogenase (SDH) genes, leads a direct abrogation hypoxia inducible factor (HIF) degradation, resulting pseudo-hypoxic state implicated PCC/PGL development. Recently, somatic post-zygotic mutations EPAS1 (HIF2A) have been found...
<h3>Background</h3> Nowadays, 65–80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs) none include testing. We aimed to genetically characterise S-PPGL propose an evidence-based algorithm for testing, prioritising DNA source. <h3>Methods</h3> The study included 329 probands fitting three criteria: single PPGL, no syndromic...
Downregulation of MHC class I expression is a widespread phenomenon used by tumor cells to escape antitumor T-cell-mediated immune responses. These alterations may play role in the clinical course disease. The aim our study was investigate molecular mechanism underlying absence HLA-class molecule bladder cancer cells. Microdissected tissues were characterized real-time quantitative PCR for HLA-ABC, beta2-microglobulin and members antigen processing machinery (APM) HLA molecules (LMP2, LMP7,...
Abstract A series of 38 primary laryngeal and hypopharyngeal tumours, 15 lymph‐node metastases normal tissue were evaluated in frozen sections for the expression MHC class I II antigens, using monomorphic monoclonal antibodies (MAbs) to HLA‐ABC, β2‐microglobulin, DR, DP, DQ, HLA‐B polymorphic HLA‐ABC antigens. Normal distant mucosa larynx reacted anti‐class but not II. In 9 tumours (23.7%) HLA antigens observed. The remaining 29 showed a strong reaction anti‐HLA‐ABC (heavy chain)...
Abstract We used the U937 cell line to analyze CD14, CD11/CD18, HLA class‐I and DR antigen expression during PMA‐induced differentiation. Treatment of cells with PMA markedly increased CDIIa, CDIIb CDI8 expression, slightly CDIIc expression. Protein kinase C may play a major role in regulating these antigens. The protein inhibitor H7 abrogated inductive effect PMA. Calcium ionophore, when added alone or presence PMA, had no effect. inhibitory calcium antagonist verapamil, EGTA,...
Mental retardation affects 1–3% of the general population, and genetic causes in many cases are unknown. Cytogenetically undetected chromosomal imbalances have been indicated as an explanation. Nowadays, due to development molecular cytogenetic techniques, it is possible identify cryptic rearrangements involving ends chromosomes. We report a screening using chromosome‐specific telomere fluorescence in‐situ hybridization (FISH) probes, group 30 patients with well‐characterized phenotype...
Summary. We have compared the expression of common leucocyte antigen (CD45) and restricted (CD45R) on normal haematopoietic cells, cell lines, a total number 136 cases myeloid lymphoid proliferative syndromes. CD45, conventional antigen, presents generalized distribution along maturation pathway with exception some myelomas pre‐B leukaemias. In contrast, CD45R determinant is more limited. Although it found in majority differentiation stages B cells monocytes, present only early...
<h3>Background:</h3> The ESR1 AGATA haplotype is composed of five markers located within introns 5 and 6 the human oestrogen receptor 1 (<i>ESR1</i>) gene. This has been studied in several male urogenital tract anomalies infertility. In one these studies, a deviation from Hardy–Weinberg equilibrium (DHW) was found for marker rs3020375 two groups healthy controls. present study, we investigated whether observed DHW caused by structural variants <i>ESR1</i> <h3>Participants:</h3> 229 family...
Abstract Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define clinical and genetic characteristics of this in Spanish population identify new genes potentially associated with disease. Results reviewed data collected through specific questionnaire series 145 patients phenotypic features compatible PHTS performed molecular characterization several approaches including next generation sequencing whole exome...
Abstract Theiler's murine encephalomyelitis virus (TMEV) induces immune‐mediated demyelination in susceptible strains of mice, providing an excellent model for multiple sclerosis. Class I genes within the major histocompatibility complex locus (H‐2D region)play a role determining whether mice develop chronic and TMEV persistence. B 10.D2 dml with deletion 3′ end D d 5′ L most prominent comparison resistant B10. D2 normal complementation H‐2D region genes. We tested expression class human...
Biochemical and functional aspects as well features of cellular distribution the differentiation groups CD11a CD18 were studied in course a detailed characterization two new monoclonal antibodies which recognize α (GRS3) β (GRF1) chains LFA-1 antigen. Both MAbs inhibited homotypic aggregation an EBV cell line. In contrast, only GRF1 (anti-β chain) was able to inhibit granulocyte well. Different myeloid-monocyte antigen modulation noted PMA induced macrophage differention U937 HL60 lines....
The aim of this study was to assess the prevalence germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected impact genetic diagnosis epidemiology cohort evaluated. Performance risk-reducing prophylactic measures, such as mastectomy and/or oophorectomy, assessed through clinical follow-up patients with positive result....
Different monoclonal antibodies detecting the leucocyte common antigen have been obtained, for CD45 (GRT2,GRT3 and GRT4) CD45R (GRT22). Several epitopes defined with these (MAbs). We performed a comparative study MAbs on NK T cell proliferation. Common of were found to be involved in blocking activity but not restricted determinants. In proliferation assays, fresh human peripheral blood mononuclear cells stimulated PHA soluble CD3 MAbs. failed demonstrate capacity modify mitogenic response...