Výsledky vyhledávání - "Olga Londoño"

Akademický článek

Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework

Autor: Juan Javier López-Rivera, Luna Rodríguez-Salazar, Alejandro Soto-Ospina, Carlos Estrada-Serrato, David Serrano, Henry Mauricio Chaparro-Solano, Olga Londoño, Paula A. Rueda, Geraldine Ardila, Andrés Villegas-Lanau, Marcela Godoy-Corredor, Mauricio Cuartas, Jorge I. Vélez, Oscar M. Vidal, Mario A. Isaza-Ruget, Mauricio Arcos-Burgos

Publikováno v: Brain Sciences, Vol 12, Iss 7, p 871 (2022)

A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiabl

Externí odkaz: https://doaj.org/article/cf2108db75d04200bab42022ab155b2f

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Analysis of the Structural Protein Effects Caused by the PURA p.Phe233del Mutation Associated to Cognitive Developmental Delay Using Artificial Intelligence and Hybrid Quantum Mechanics-Molecular Mechanics Modelling

Autor: Juan Javier Lopez-Rivera, Luna Rodríguez-Salazar, Alejandro Soto-Ospina, Carlos Estrada-Serrato, David Serrano, Henry Mauricio Chaparro-Solano, Olga Londoño, Paula A. Rueda, Geraldine Ardila, Andrés Villegas-Lanau, Marcela Godoy-Corredor, Mauricio Cuartas, Jorge I. Vélez, Oscar M. Vidal, Mario A. Isaza-Ruget, Mauricio Arcos-Burgos

A whole-exome capture and next-generation sequencing applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, severe cognitive deficit, without any identifiable Syndromic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1740a45ca9b507578d05671c3d0fa5
https://doi.org/10.20944/preprints202205.0280.v1

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Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

Autor: Heidi Mateus, Dora Janeth Fonseca, Luz Adriana Caro, David Bolívar-Salazar, Ana Francisca Ramírez, Alejandra de-la-Torre, Yohjana Carolina Suárez, Diana Carolina Sierra-Diaz, Olga Londoño, Paul Laissue, Carlos Serrano-Reyes

Publikováno v: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions to drugs. Granulysin (GNLY) plays a key role in keratinocyte apoptosis during SJS/TEN pathophysiology. To determine if GNLY-encoding mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ab220339d0ba6ca40fd98285659b05
https://repository.urosario.edu.co/handle/10336/24215

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