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Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid
Abstract
The project concerns the role of aquaporins and water movement in achondroplastic cells (chondrocytes). The objectives described in the original report are: 1. Study of the presence and distribution of aquaporins in normal and achondroplastic chondrocytes, studying their distribution as the chondrocyte matures. 2. Silencing of aquaporins to understand their physiological relevance in the normal and achondroplastic chondrocyte. 3. The effect that the normal and achondroplastic FGFR3 receptor has on traffic of aquaporins to the plasma membrane and on the expression of these proteins. 4. Effects of Ap4A and PPADS on aquaporins. 5. Use of the Tat transcription protein to block characteristic overactivation of FGFR3 receptors in achondroplasia and its effect on aquaporins.
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
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23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- 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. Madrid
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- 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
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