Zobrazeno 1 - 10 of 48 pro vyhledávání: '"Nuria Suárez"'
1
Akademický článek
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4
Autor: Irene Vázquez-Domínguez, Mert Öktem, Florian A. Winkelaar, Thai Hoang Nguyen, Anita D.M. Hoogendoorn, Eleonora Roschi, Galuh D.N. Astuti, Raoul Timmermans, Nuria Suárez-Herrera, Ilaria Bruno, Albert Ruiz-Llombart, Joseph Brealey, Olivier G. de Jong, Rob W.J. Collin, Enrico Mastrobattista, Alejandro Garanto
Publikováno v: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102345- (2024)
Deep-intronic (DI) variants represent approximately 10%–12% of disease-causing genetic defects in ABCA4-associated Stargardt disease (STGD1). Although many of these DI variants are amenable to antisense oligonucleotide-based splicing-modulation the
Externí odkaz: https://doaj.org/article/9cd8756ec318431f8076236a1e749258
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3
Akademický článek
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
Autor: Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin
Publikováno v: Stem Cell Research, Vol 73, Iss , Pp 103252- (2023)
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (
Externí odkaz: https://doaj.org/article/d941c4a9899844418c163372794e5485
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5
Akademický článek
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
Autor: Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Publikováno v: Cells, Vol 13, Iss 7, p 601 (2024)
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the
Externí odkaz: https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4e
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7
The Role of Capital and Liquidity in Bank Lending: Are Banks Safer?
Autor: Nuria Suárez, Salvatore Polizzi, Enzo Scannella
Publikováno v: Global Policy. 11:28-38
The aim of this paper is to examine whether and to what extent bank capital requirements and liquidity standards influence the level of bank stability. Our approach is that both capital and liquidity affect lending growth, which in turn affects bank
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f20313b798cdb4843b99c304f8e6c91
https://doi.org/10.1111/1758-5899.12750
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10
Akademický článek
Epidermoid carcinoma of the conjunctiva. Case report
Autor: María Adela LLull Tombo, Mariela Julia Curbelo Gómez, Daniel Martínez Ojeda, Leonor Rosario Díaz Alfonso, Bárbara Nuria Suárez Rodríguez, Anays Martínez Díaz
Publikováno v: Medisur, Vol 9, Iss 6, Pp 579-582 (2011)
Se presenta el caso de un paciente de 76 años de edad con un carcinoma epidermoide de conjuntiva. La manifestación clínica principal fue la molestia, el dolor y el ojo rojo. Al examen físico ocular se encontró lesión blanquecina, con vasos sang
Externí odkaz: https://doaj.org/article/1ffd2aa38ee441beb2b1dc369ecdfd99
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Plný text Recenzováno Digitální knihovna AV ČR
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