A5004269208- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- T-cell and B-cell Immunology
- Neuroendocrine Tumor Research Advances
- Pituitary Gland Disorders and Treatments
- Immune Cell Function and Interaction
- Peptidase Inhibition and Analysis
- Genetic and Kidney Cyst Diseases
- Diabetes and associated disorders
- MicroRNA in disease regulation
- Genetic Syndromes and Imprinting
- Lung Cancer Research Studies
- Pancreatic and Hepatic Oncology Research
- Cancer-related gene regulation
- Prenatal Screening and Diagnostics
- Immune Response and Inflammation
- Adrenal and Paraganglionic Tumors
- Galectins and Cancer Biology
- Cancer-related molecular mechanisms research
- Extracellular vesicles in disease
- Thyroid Disorders and Treatments
- Muscle Physiology and Disorders
- Neuroblastoma Research and Treatments
- Histone Deacetylase Inhibitors Research
Hospital Universitario de La Princesa
2015-2024
Centro de Investigación Biomédica en Red
2020-2024
Universidad Autónoma de Madrid
2015-2024
Centre for Biomedical Network Research on Rare Diseases
2008-2024
Universidad San Pablo CEU
2023
Royal Holloway University of London
2015
Hospital de Sant Pau
2009-2014
Instituto de Salud Carlos III
2008-2011
Instituto de Investigación de Enfermedades Raras
2008
The loss and degeneration of spinal cord motor neurons result in muscle denervation muscular atrophy (SMA), but whether there are primary pathogenetic abnormalities SMA is not known. We previously detected increased DNA fragmentation downregulation Bcl-2 Bcl-X(L) expression no morphological changes fetuses. Here, we performed histological morphometric analysis myotubes assessed Bcl-2/Bcl-X(L) skeletal from fetuses with type I (at approximately 12 15 weeks' gestational ages, n = 4) controls...
Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by alterations in the Survival Motor Neuron 1 gene that triggers degeneration of motor neurons within cord. Spinal second most common severe hereditary disease infancy and early childhood. In cases (type I), appears first months life, suggesting defects fetal development. However, it not yet known how neurons, junctions, muscle interact neuropathology disease. We report structure presynaptic...
Abstract Purpose Peripheral helper T (Tph) cells have an important role in the induction of humoral immune responses and autoantibody production. Accordingly, it is feasible that this lymphocyte subset has a relevant pathogenesis autoimmune thyroid diseases (AITD). In study we aim to analyze levels function Tph blood samples from patients with AITD. Methods We performed observational cases controls. Blood were obtained nineteen Hashimoto’s thyroiditis (HT), twenty-four Graves’ disease (GD),...
The immune checkpoint based therapy targeting the programmed death-1 (PD-1) receptor and its PD-L1 ligand has recently been approved for of different malignant conditions, but not yet gastroenteropancreatic neuroendocrine tumors (GEP-NETs). In this context, we evaluated expression PD-1 in GEP-NETs potential correlations with clinical outcomes. Expression PD-1/PD-L1 was analyzed by immunohistochemistry 116 48 samples peritumoral tissue. addition, these molecules assessed flow cytometry...
Microvesicles (MVs) are emerging as important contributors to the development of inflammatory and autoimmune diseases. MVs can mediate immune modulation carrying genetic information, including microRNAs that be transferred between cells.We determined plasma levels annexin-V+ derived from different cells platelets in patients with thyroid diseases (AITDs) healthy controls. T lymphocyte polarization assays were performed presence evaluate their effect regulatory helper 17 differentiation....
Abstract Context Circulating microRNAs (miRNAs) are emerging as an interesting research area because of their potential role novel biomarkers and therapeutic targets. Their involvement in autoimmune thyroid diseases (AITDs) has not been fully explored. Objective To compare the expression profile miRNAs tissue from patients with AITD controls, using next-generation sequencing, further validated our findings serum samples. Design Twenty fresh-frozen tissues (15 5 controls) were used for miRNA...
BackgroundThe mechanisms underlying autoimmune thyroid disease (AITD) remain elusive. Identification of such would reveal novel and/or better therapeutic targets. Here, we use integrated analysis miRNAs and mRNAs expression profiling to identify potential targets involved in the AITD.MethodsmiRNA mRNA from twenty fresh-frozen tissues (15 AITD patients 5 healthy controls) were subjected next-generation sequencing. An anti-correlated method revealed pathways targets, including proteins...
Spinal muscular atrophy (SMA) is characterized by loss of motor neurons in the spinal cord that results muscle denervation and profound weakness affected patients. We sought evidence for primary involvement disease during human development analyzing expression several cytoskeletal components (i.e. slow, fast, developmental myosin, desmin, vimentin) fetal or postnatal skeletal samples from 5 SMA cases 6 controls. At 14 weeks' gestation, had higher percentages myotubes expressing fast myosin...
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in Survival Motor Neuron 1 ( SMN1 ), leading to degeneration of alpha motor neurons (MNs) but also affecting other cell types. Induced pluripotent stem (iPSC)-derived human MN models from severe SMA patients have shown relevant phenotypes. We produced and fully characterized iPSCs members discordant consanguineous family with chronic SMA. differentiated the iPSC clones into ISL-1+/ChAT+ MNs performed...
Abstract Autoimmune thyroid diseases (AITD) such as Graves’ disease (GD) or Hashimoto’s thyroiditis (HT) are organ-specific that involve complex interactions between distinct components of tissue. Here, we use spatial transcriptomics to explore the molecular architecture, heterogeneity and location different cells present in tissue, including follicular (TFCs), stromal fibroblasts, endothelial cells, infiltrating lymphocytes. We identify damaged antigen-presenting TFCs with upregulated CD74...
Spinal muscular atrophy ( SMA ) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene SMN1 ). Global carrier frequency around 1 50 and detection crucial to define couples at risk have offspring. Most carriers one copy are currently detected using quantitative methods. A few, however, two genes cis (2/0 carriers), complicating diagnosis . We analyzed our experience detecting 2/0 from a cohort of 1562 individuals, including parents, relatives, unrelated...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by absence of or mutations in the survival motor neuron1 gene (SMN1). All SMA patients have a highly homologous copy SMN1, SMN2 gene. Severe (type I) present one two copies, whereas milder chronic forms II-III) usually three four copies. dosage important to stratify for function tests and clinical trials. Our aim was compare methods, marker analysis, real-time quantitative polymerase chain reaction using...
T regulatory type 1 (Tr1) cells are a subpopulation of lymphocytes (CD4+CD49+LAG-3+IL-10+) that exert considerable immunosuppressive effect. However, their possible role in autoimmune thyroid disease (AITD) has not been explored so far. To analyze the levels and function Tr1 peripheral blood tissue patients with AITD. Cases controls, observational study. Department Endocrinology, Hospital Universitario de la Princesa, Madrid, Spain. Thirty-eight AITD (23 Graves 15 Hashimoto thyroiditis) 26...
Pituitary neuroendocrine tumors (PitNETs) account for approximately 15% of all intracranial neoplasms. Although they usually appear to be benign, some display worse behavior, displaying rapid growth, invasion, refractoriness treatment, and recurrence. Increasing evidence supports the role primary cilia (PC) in regulating cancer development. Here, we showed that PC are significantly increased PitNETs associated with tumor invasion Serial electron micrographs PITNETs demonstrated different...
Immune-mediated inflammatory disorders (IMID) are a group of diseases that present inflammation as major pathogenic mechanism. They affect 15% the population and pose heavy socio-economic burden. Despite growing knowledge on etiopathogenesis these marked improvement in their management, there is lack predictive markers IMID development or severity suitable for early diagnosis adjustment treatment intensity. The possibility certain circulating miRNA profiles could be used biomarkers risk...
Cancer cells develop mechanisms that increase nutrient uptake, including key carriers, such as amino acid transporter 1 (LAT-1) and glucose (GLUT-1), regulated by the oxygen-sensing Von Hippel Lindau-hypoxia-inducible factor (VHL-HIF) transcriptional pathway. We aimed to analyze these metabolic players in gastroenteropancreatic neuroendocrine tumors (GEP-NET) correlate them with tumor malignancy progression. LAT-1, GLUT-1, pVHL expression was analyzed 116 GEP-NETs 48 peritumoral tissue...
Growth hormone (GH)-secreting pituitary tumors (GHomas) are the most common acromegaly cause. At diagnosis, of them macroadenomas, and up to 56% display cavernous sinus invasion. Biomarker assessment associated with tumor growth invasion is important optimize their management.