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#Proyectos relacionados con Dyskeratosis congenita. New models, New molecular keys and New treatments
124 results. Displaying from 1 to 124
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Phototherapy: resonant gold nanoparticles in the near infrared for photothermal ablation of tumour cells and for activation of therapeutic genes
2008
Senior Researcher : Manuel Arruebo Gordo Research Centre or Institution : Institute of Nanoscience of Aragón. University of Zaragoza. -
Applicability of exosomes as predictors of response to treatment and prognosis in breast cancer: cellular modifications induced by the interaction of exovesicles
2016
Senior Researcher : Fernando Rodríguez Serrano -
Clinical application of pharmacogenetic markers in the treatment of colorectal cancer. Establishment of therapeutic guidelines and recommendations
2006
Senior Researcher : Francisco Barros Angueira Research Centre or Institution : Hospital Clínico Universitario de Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica. -
Pharmacogenetics in colorectal cancer
2006
Senior Researcher : Luis Andrés López Fernández Research Centre or Institution : Fundación para la Investigación Biomédica del Hospital Gregorio Marañón. Madrid -
Magnetoplasmonic control (actuation and monitoring) of drug release using Fe/Au semi‐shells on biodegradable nanoparticles (MAGPLADRUG)
2018
Senior Researcher : Alejandro Gómez Roca Research Centre or Institution : Instituto Catalán de Nanociencia y Nanotecnología. Bellaterra, Barcelona. -
Development and preclinical testing of simultaneous dual engagement chimeric antigen receptors (SiDECARs) against acute myeloid leukemia
2016
Senior Researcher : Hisse Martien van Santen Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Development and validation of an aerosol with intelligent nanoparticles in order to treat lung cancer
2016
Senior Researcher : Eva Martín del Valle Research Centre or Institution : Universidad de Salamanca -
Development of new targets for immunotherapy in cancer metastasis
2016
Senior Researcher : José Ignacio Casal Álvarez Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)more information on Development of new targets for immunotherapy in cancer metastasis
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From preclinical models to the patient: a holistic investigation of immunotherapies in multiple myeloma
2016
Senior Researcher : Enrique María Ocio San Miguel -
Gene editing of key transcription factors to improve the antitumor efficacy of Adoptive T cell Therapy
2016
Senior Researcher : Juan José Lasarte Sagastibelza -
Genomic and transcriptomic study of circulating tumor lymphocytes for the development of biomarkers associated with the response to treatment with inhibitors of the PD-L1 / PD1 pathway in patients with NSCLC
2016
Senior Researcher : Ángel Carracedo Álvarez Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela. -
The Role of Dido in Lymphoid and Myeloid Development and Its Implications in Neoplasia
2016
Senior Researcher : Carlos Martínez Alonso Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid -
Transforming EGFR expressing tumors into immune-rejectable tissues
2016
Senior Researcher : Fernando Pastor Rodríguezmore information on Transforming EGFR expressing tumors into immune-rejectable tissues
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The structural bases of tumoral development associated with transcription regulating interactome defects
2014
Senior Researcher : Carlos Fernández Tornero Research Centre or Institution : Centro de Investigaciones Biológicas (CIB) (CSIC) -
Exploring post-translational regulation of angiogenic and inflammatory-related processes during colorectal cancer progession and differential recurrence
2020
Senior Researcher : Petronila Penela Márquez Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM -
Inhibition of the protein that regulates SLC4A2 cell ion metabolism as a new therapy in leukaemia, lymphoma and myeloma
2014
Senior Researcher : José Ángel Martínez-Climent Research Centre or Institution : Centro de Investigación Médica Aplicada de la Universidad de Navarra -
Molecular characterisation of the role of mitochondrial dysfunction in tumoral development
2014
Senior Researcher : Ignacio Alejandro Varela Egocheaga Research Centre or Institution : Instituto de Biomedicina y Biotecnología de Cantabria. CSIC-Universidad de Cantabria-SODERCAN. -
Oxidise NADPH and the regulation of intermediate leukemic cell metabolism: the search for new therapeutic strategies
2014
Senior Researcher : Ángel Hernández Hernández Research Centre or Institution : Instituto de Investigación Biomédica de Salamanca (IBSAL). CSIC-Universidad de Salamanca. -
Pharmaco-mimetic analysis of the therapeutic value of Vav-dependent metabolic routes in breast cancer
2014
Senior Researcher : Xosé Ramón García Bustelo Research Centre or Institution : Centro de Investigación del Cáncer de Salamanca -
Studies of tumorigenesis in Drosophila: possible clinical implications
2014
Senior Researcher : Ginés Morata Pérez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Studies of tumorigenesis in Drosophila: possible clinical implications
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The AMPK enzyme, a nexus joined metabolism and cancer. A new therapeutic strategy in cerebral glyoblastomas
2014
Senior Researcher : Rosa Mª Señarís Rodríguez Research Centre or Institution : Departamento de Fisiología. CIMUS. Universidad de Santiago de Compostela -
The antitumor effect of GCN2 kinase: the relationship between nutritional stress, protein synthesis and skin cancer
2014
Senior Researcher : César Jesús de Haro Castella Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The diagnosis of cancer by means of a metabolic nanosensor platform
2014
Senior Researcher : Ángel Orte Gutiérrez Research Centre or Institution : Facultad de Farmacia. Universidad de Granadamore information on The diagnosis of cancer by means of a metabolic nanosensor platform
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The effect of antitumour penetrating peptides based on connexin-43 in the selective metabolic reprogramming of human glyoma stem cells
2014
Senior Researcher : Aránzazu Tabernero Urbieta Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. -
The inhibition of fatty acid syntase lipogenic enzyme (FASN) as a new therapeutic strategy for the treatment of triple negative breast cancer
2014
Senior Researcher : Teresa Puig Miquel Research Centre or Institution : Facultad de Medicina. Universidad de Girona -
The oncogenic function of IF1: the inhibitor of mitochondrial H+-ATP syntase
2014
Senior Researcher : José Manuel Cuezva Marcos Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on The oncogenic function of IF1: the inhibitor of mitochondrial H+-ATP syntase
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Spanish National Brain Metastasis Network (RENACER): Implementation, Development and Coordination
2020
Senior Researcher : Eva Ortega Paíno Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid -
Tumor microbiome and immune profiles as predictors of treatment response in high-risk non-muscle invasive bladder cancer (MIT-BC Study)
2020
Senior Researcher : Nuria Malats Riera y Ravid Straussman Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas. Madrid y el Weizman Institute of Science. Rehovot -
p38α in control of UV-induced melanoma development and progression
2018
Senior Researcher : Juan Ángel Recio Conde Research Centre or Institution : Fundació Institut Recerca Vall d´Hebron. Hospital Vall d´Hebron. Barcelonamore information on p38α in control of UV-induced melanoma development and progression
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Precision medicine approach to target deregulated metabolism in multiple myeloma
2018
Senior Researcher : Francisco Javier Planes Pedreño Research Centre or Institution : TECNUN, Escuela de Ingenieros de la Universidad de Navarramore information on Precision medicine approach to target deregulated metabolism in multiple myeloma
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Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
2020
Senior Researcher : Vicente Rubio Zamora Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC. -
Phenotyping of animal models of rare diseases with visual disability
2020
Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madridmore information on Phenotyping of animal models of rare diseases with visual disability
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Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype
2020
Senior Researcher : Eva María Richard Rodríguez Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM -
Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation
2020
Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona -
The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development
2020
Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM -
Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A
2018
Senior Researcher : Marc Güell Cargol Research Centre or Institution : Universidad Pompeu Fabra. Barcelona -
Artificial intelligence and machine learning in human diseases
2018
Senior Researcher : Pablo Lapunzina Badía Research Centre or Institution : INGEMM-Hospital Universitario La Paz-CIBERER. Madridmore information on Artificial intelligence and machine learning in human diseases
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Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
2018
Senior Researcher : Juan Pedro Bolaños Hernández Research Centre or Institution : Instituto de Biología Funcional y Genómica, Universidad de Salamanca-CSIC -
Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
2018
Senior Researcher : Cristina Fillat Fonts Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.more information on Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
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Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
2018
Senior Researcher : Juan Viña Ribes Research Centre or Institution : Universidad de Valencia. -
Molecular mechanisms underlying Zic2-associated holoprosencephaly
2018
Senior Researcher : Eloisa Herrera González de Molina Research Centre or Institution : Instituto de Neurociencias. CSIC-Universidad Miguel Hernández. Alicante.more information on Molecular mechanisms underlying Zic2-associated holoprosencephaly
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New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
2018
Senior Researcher : Pablo Huertas Sánchez Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)more information on New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
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Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
2018
Senior Researcher : María Luisa Toribio García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
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Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases
2018
Senior Researcher : Juan Antonio García Ranea Research Centre or Institution : CIBERER. Universidad de Málaga -
Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK
2018
Senior Researcher : Rafael Vázquez Manrique Research Centre or Institution : Instituto de Investigación Sanitaria La Fe. Valencia -
A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing
2016
Senior Researcher : Carmen Ayuso García Research Centre or Institution : Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid. -
Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets
2016
Senior Researcher : Noemí de Luna Salvà -
AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies
2016
Senior Researcher : Jorgina Satrústegui Gil-Delgado Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Astrocytes: new anti-epileptic targets in Lafora disease
2016
Senior Researcher : Pascual Felipe Sanz Bigorramore information on Astrocytes: new anti-epileptic targets in Lafora disease
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Modeling of familial cerebral cavernous malformation through cellular reprogramming
2016
Senior Researcher : Miguel Ángel Fidalgo Pérez Research Centre or Institution : Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela -
Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
2016
Senior Researcher : César Cobaleda Hernández Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
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Phosphodiesterase inhibitors as Friedreich's ataxia treatment
2016
Senior Researcher : Pilar González Cabo Research Centre or Institution : Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valenciamore information on Phosphodiesterase inhibitors as Friedreich's ataxia treatment
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Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases
2016
Senior Researcher : Paola Bovolenta Nicolao Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)
2016
Senior Researcher : Francesc Palau Martínez Research Centre or Institution : Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona. -
The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application
2016
Senior Researcher : Ángeles Almeida Parra Research Centre or Institution : Instituto de Investigación Biomédica de Salamanca (IBSAL). CSIC-Universidad de Salamanca. -
Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
2016
Senior Researcher : María del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona. -
Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease
2016
Senior Researcher : José Jesús Fernández Rodríguez Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid -
Agenesis of the corpus callosum. Basic mechanisms and treatment
2014
Senior Researcher : Marta Nieto López Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madridmore information on Agenesis of the corpus callosum. Basic mechanisms and treatment
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Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia
2014
Senior Researcher : Felipe Cortés Ledesma Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) -
Characterisation of MORC2, a new gene involved in peripheral neuropathies
2014
Senior Researcher : Carmen Espinós Armero Research Centre or Institution : Centro de Investigación Príncipe Felipemore information on Characterisation of MORC2, a new gene involved in peripheral neuropathies
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Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy
2014
Senior Researcher : Lourdes Ruiz Desviat Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Identification of the function of the Wt1gene in Huntington's disease
2014
Senior Researcher : Ofelia M. Martínez Estrada Research Centre or Institution : Departamento de Biología Celular. Universidad de Barcelonamore information on Identification of the function of the Wt1gene in Huntington's disease
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Models for congenital muscular dystrophies: the search for phenotype suppressors
2014
Senior Researcher : Enrique Martín Blanco Research Centre or Institution : Instituto de Biología Molecular de Barcelona. CSIC.more information on Models for congenital muscular dystrophies: the search for phenotype suppressors
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Molecular mechanisms in Dravet's syndrome
2014
Senior Researcher : Francisco Zafra Gómez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Molecular mechanisms in Dravet's syndrome
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Molecular therapy for Laminopathies
2014
Senior Researcher : Ana María González García Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid -
New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome
2014
Senior Researcher : José María González-Granado Research Centre or Institution : Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid -
Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
2014
Senior Researcher : Rebeca Pérez de Diego Research Centre or Institution : IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid. -
Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life
2014
Senior Researcher : Mercedes Martínez-Pardo Casanova Research Centre or Institution : CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal (Madrid) -
Study of the molecular bases of hereditary blindness
2014
Senior Researcher : Ana Méndez Zunzunegui Research Centre or Institution : Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.more information on Study of the molecular bases of hereditary blindness
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The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications
2014
Senior Researcher : Esther Pérez-Navarro Research Centre or Institution : Universidad de Barcelona. -
Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets
2014
Senior Researcher : José Manuel Bautista Santa Cruz Research Centre or Institution : Instituto de Investigación Hospital 2 de Octubre. Madrid. -
Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease
2011
Senior Researcher : Beatriz Morte Molina Research Centre or Institution : Centros de Investigación Biomédica en Red (CIBER). Madrid -
Analysis of the contribution of CRB2 protein to the establishment and permanence of adherent joins in the pigmentary epithelium, and its relationship with retinal dystrophies
2011
Senior Researcher : Mª Concepción Lillo Delgado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. -
Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease
2011
Senior Researcher : Silvia Ginés Padrós Research Centre or Institution : Universidad de Barcelona. -
Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix
2011
Senior Researcher : Gustavo Egea Guri Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona. -
Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain
2011
Senior Researcher : Ana Vega Gliemmo Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela. -
Directed neuronal differentiation of stem-like glioma initiating cells
2011
Senior Researcher : Núria de la Iglesia Zaragoza Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.more information on Directed neuronal differentiation of stem-like glioma initiating cells
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Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
2011
Senior Researcher : Miguel Ángel Moreno Pelayo Research Centre or Institution : Hospital Universitario Ramón y Cajal, IRYCIS. Madrid. -
Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies
2011
Senior Researcher : Mª del Pilar Rodríguez Pombo Research Centre or Institution : Universidad Autónoma de Madrid. -
Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina
2011
Senior Researcher : Pere Garriga Solé Research Centre or Institution : Universidad Politécnica de Cataluña. Barcelona. -
Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis
2011
Senior Researcher : Joan J. Guinovart Cirera Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona. -
Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)
2011
Senior Researcher : Ángeles Martín Requero Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC) -
Pathological mechanisms in Lysinuria with protein intolerance
2011
Senior Researcher : Manuel Palacín Prieto Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.more information on Pathological mechanisms in Lysinuria with protein intolerance
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Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia
2011
Senior Researcher : Petronila Penela Márquez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Study of the role of PSGL-1 in the control of the development of autoimmune diseases
2011
Senior Researcher : Ana Carmen Urzainqui Mayayo Research Centre or Institution : Hospital Universitario de la Princesa. Madrid. -
The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences
2011
Senior Researcher : Marta Eugenia Alarcón Riquelme Research Centre or Institution : Centro Pfizer. Universidad de Granada. Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada -
The correction of fibroblasts with mutations causing Wiskott Aldrich syndrome by means of adeno-associated viruses (AAV). The effects of corrective methods on cellular reprogramming by means of episomal vectors
2011
Senior Researcher : Miguel Ángel de la Fuente García Research Centre or Institution : Instituto de Biología y Genética Molecular (IBGM).Valladolid. -
The development of molecular scalpels for the repair of genes involved in single gene diseases
2011
Senior Researcher : Guillermo Montoya Blanco Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid -
The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis
2011
Senior Researcher : Andrés Celestino García Montero Research Centre or Institution : Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC. -
The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms
2011
Senior Researcher : Guillermo Antiñolo Gil Research Centre or Institution : Hospital Universitario Virgen del Rocío. Sevilla. -
The molecular bases for variability in the presentation and clinical development of Wilson's disease
2011
Senior Researcher : Ignacio Vicente-Sandoval Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa
2011
Senior Researcher : María José Escámez Toledano Research Centre or Institution : Universidad Carlos III de Madrid. -
Translational Research into rare diseases of iron metabolism using massive parallel sequencing
2011
Senior Researcher : Mª del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona. -
Alternative therapies for inherited metabolic diseases
2008
Senior Researcher : Alejandra Gámez Abascal Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madridmore information on Alternative therapies for inherited metabolic diseases
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Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease
2008
Senior Researcher : José Javier Lucas Lozano Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology
2008
Senior Researcher : Jesús Rodríguez Díaz Research Centre or Institution : Instituto de Agroquímica y Tecnología deAlimentos(IATA). CSIC. Valencia. (Spain). -
Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
2008
Senior Researcher : Jesús Pintor Just Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid -
Detection of molecules related to the mechanism of protection against canine Leishmaniasis. Differential gene expression in cells activated during the protection response induced by the LACK vaccine
2008
Senior Researcher : Vicente Emilio Larraga Rodríguez de Vera Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC) -
Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
2008
Senior Researcher : Rosario Perona Abellón Research Centre or Institution : Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM. -
Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools
2008
Senior Researcher : Antonio Muro Álvarez Research Centre or Institution : Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS) -
Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development
2008
Senior Researcher : Ana Velasco Criado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. -
Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders
2008
Senior Researcher : Marcos Malumbres Martínez Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid -
Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
2008
Senior Researcher : Carmen Guerra González Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madridmore information on Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
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Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
2008
Senior Researcher : José Antonio Esteban García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid -
Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
2008
Senior Researcher : Óscar Millet Aguilar-Galindo Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya. -
Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
2008
Senior Researcher : Ignacio del Castillo Fernández del Pino Research Centre or Institution : Hospital Universitario Ramón y Cajal. Madrid. -
New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease
2008
Senior Researcher : Rubén Darío Artero Allepuz Research Centre or Institution : Facultad de Biología. Universidad de Valencia -
Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders
2008
Senior Researcher : Carmen Ortiz Mellet Research Centre or Institution : Facultad de Química. Universidad de Sevilla -
Structural approach to the molecular basis of two rare kidney diseases
2008
Senior Researcher : Óscar Llorca Blanco Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)more information on Structural approach to the molecular basis of two rare kidney diseases
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Study of the possible immunomodulation caused by Anisakis simplex larval antigens
2008
Senior Researcher : María del Carmen Cuéllar del Hoyo Research Centre or Institution : Facultad de Farmacia. Universidad Complutense. Madrid -
Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease
2008
Senior Researcher : Andrés Alonso García Research Centre or Institution : Instituto de Biología y Genética Molecular. CSIC. Valladolid. -
Towards a complete model of the molecular network disrupted in Fanconi anaemia
2008
Senior Researcher : Miguel Ángel Genestar Pujana Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.more information on Towards a complete model of the molecular network disrupted in Fanconi anaemia
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Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics
2008
Senior Researcher : Francisco España Furió Research Centre or Institution : Hospital Universitario La Fe. Valencia. -
Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation
2006
Senior Researcher : Montserrat Milà Recasens Research Centre or Institution : Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona -
Characterisation of the astrocytic function in megalencephalic leukoencephalopathy
2006
Senior Researcher : Raúl Estévez Povedano Research Centre or Institution : Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona. -
Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation
2006
Senior Researcher : María de la Luz Montesinos Gutiérrez Research Centre or Institution : Facultad de Medicina. Universidad de Sevilla -
Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases
2006
Senior Researcher : Miguel Ángel Medina Torres Research Centre or Institution : Facultad de Ciencias. Universidad de Málaga -
Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection
2006
Senior Researcher : Víctor Luis Ruiz Pérez Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid. -
Molecular foundations of the human ectodermic dysplasia syndrome
2006
Senior Researcher : Paloma Pérez Sánchez Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.more information on Molecular foundations of the human ectodermic dysplasia syndrome
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Neurobiological foundations of and genetic susceptibility to fibromyalgia
2006
Senior Researcher : Manuel J. López Pérez Research Centre or Institution : Facultad de Veterinaria. Universidad de Zaragozamore information on Neurobiological foundations of and genetic susceptibility to fibromyalgia
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Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal
2006
Senior Researcher : María José Trujillo Tiebas Research Centre or Institution : Fundación Jiménez Díaz. Madrid -
Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype
2006
Senior Researcher : Carlos Pipaón González Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander. -
Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model
2006
Senior Researcher : Luisa María Botella Cubells Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC) -
Epigenetic regulation mediated by Ring1A/Ring1B, the ubiquitin ligases of the Polycomb system
2008
Senior Researcher : Miguel Ángel Vidal Caballero Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)
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