Centre for Biomedical Network Research on Rare Diseases[Grants and Funding] - Search Results

Year	Number of Results
2021	4
2022	11
2023	4
2024	2

1

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, Aquino V, Toro-Barrios N, Carmona R, Polverino E, Cols M, Moreno-Galdó A, Camats-Tarruella N, Marfany G. Baz-Redón N, et al. Cells. 2024 Mar 16;13(6):524. doi: 10.3390/cells13060524. Cells. 2024. PMID: 38534367 Free PMC article.

2

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C. Fernández-Caballero L, et al. Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913. Int J Mol Sci. 2024. PMID: 38474159 Free PMC article.

3

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.

Pagán-Escribano J, Corral J, Miñano A, Padilla J, Roldán V, Hernández-Vidal MJ, Lozano J, de la Morena-Barrio I, Vicente V, Lozano ML, Herranz MT, de la Morena-Barrio ME. Pagán-Escribano J, et al. Int J Mol Sci. 2023 Nov 13;24(22):16270. doi: 10.3390/ijms242216270. Int J Mol Sci. 2023. PMID: 38003459 Free PMC article.

4

CD44 Modulates Cell Migration and Invasion in Ewing Sarcoma Cells.

Fernández-Tabanera E, García-García L, Rodríguez-Martín C, Cervera ST, González-González L, Robledo C, Josa S, Martínez S, Chapado L, Monzón S, Melero-Fernández de Mera RM, Alonso J. Fernández-Tabanera E, et al. Int J Mol Sci. 2023 Jul 21;24(14):11774. doi: 10.3390/ijms241411774. Int J Mol Sci. 2023. PMID: 37511533 Free PMC article.

5

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.

Cifuentes R, Padilla J, de la Morena-Barrio ME, de la Morena-Barrio B, Bravo-Pérez C, Garrido-Rodríguez P, Llamas M, Miñano A, Vicente V, Lozano ML, Corral J. Cifuentes R, et al. Int J Mol Sci. 2023 Mar 6;24(5):5023. doi: 10.3390/ijms24055023. Int J Mol Sci. 2023. PMID: 36902454 Free PMC article.

6

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M. Tamayo A, et al. Int J Mol Sci. 2023 Jan 13;24(2):1562. doi: 10.3390/ijms24021562. Int J Mol Sci. 2023. PMID: 36675087 Free PMC article.

7

An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in rd10 Mice.

Olivares-González L, Velasco S, Gallego I, Esteban-Medina M, Puras G, Loucera C, Martínez-Romero A, Peña-Chilet M, Pedraz JL, Rodrigo R. Olivares-González L, et al. Antioxidants (Basel). 2022 Dec 30;12(1):98. doi: 10.3390/antiox12010098. Antioxidants (Basel). 2022. PMID: 36670960 Free PMC article.

8

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

Sánchez-Bellver L, Férriz-Gordillo A, Carrillo-Pz M, Rabanal L, Garcia-Gonzalo FR, Marfany G. Sánchez-Bellver L, et al. Int J Mol Sci. 2022 Oct 19;23(20):12527. doi: 10.3390/ijms232012527. Int J Mol Sci. 2022. PMID: 36293380 Free PMC article.

9

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.

Muñoz-Pujol G, Alforja-Castiella S, Casaroli-Marano R, Morales-Romero B, García-Villoria J, Yépez VA, Gagneur J, Gusic M, Prokisch H, Tort F, Ribes A. Muñoz-Pujol G, et al. Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367. Int J Mol Sci. 2022. PMID: 36293220 Free PMC article.

10

CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.

García-Arroyo R, Marfany G, Mirra S. García-Arroyo R, et al. Int J Mol Sci. 2022 Sep 30;23(19):11593. doi: 10.3390/ijms231911593. Int J Mol Sci. 2022. PMID: 36232896 Free PMC article.

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