Výsledky vyhledávání - "Ignacia, Fuentes"

Akademický článek

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

Autor: Grace Tartaglia, Ignacia Fuentes, Neil Patel, Abigail Varughese, Lauren E Israel, Pyung Hun Park, Michael H Alexander, Shiv Poojan, Qingqing Cao, Brenda Solomon, Zachary M Padron, Jonathan A Dyer, Jemima E Mellerio, John A McGrath, Francis Palisson, Julio Salas-Alanis, Lin Han, Andrew P South

Publikováno v: EMBO Molecular Medicine, Vol 16, Iss 4, Pp 870-884 (2024)

Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered de

Externí odkaz: https://doaj.org/article/68b1c43ece124fbe9f6ab1f212aefc96

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Akademický článek

Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions

Autor: Cristian De Gregorio, Evelyng Catalán, Gabriel Garrido, Pilar Morandé, Jimena Castillo Bennett, Catalina Muñoz, Glenda Cofré, Ya-Lin Huang, Bárbara Cuadra, Paola Murgas, Margarita Calvo, Fernando Altermatt, María Joao Yubero, Francis Palisson, Andrew P. South, Marcelo Ezquer, Ignacia Fuentes

Publikováno v: Biological Research, Vol 56, Iss 1, Pp 1-16 (2023)

Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare inherited skin disease caused by variants in the COL7A1 gene, coding for type VII collagen (C7), an important component of anchoring fibrils in the basement membrane of t

Externí odkaz: https://doaj.org/article/a8dd191f66034a75a30a05ba91bc6a46

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Akademický článek

Viroscope: Plant viral diagnosis from high-throughput sequencing data using biologically-informed genome assembly coverage

Autor: Sandro L. Valenzuela, Tomás Norambuena, Verónica Morgante, Francisca García, Juan C. Jiménez, Carlos Núñez, Ignacia Fuentes, Bernardo Pollak

Publikováno v: Frontiers in Microbiology, Vol 13 (2022)

High-throughput sequencing (HTS) methods are transforming our capacity to detect pathogens and perform disease diagnosis. Although sequencing advances have enabled accessible and point-of-care HTS, data analysis pipelines have yet to provide robust t

Externí odkaz: https://doaj.org/article/0686782d60a742319d3a0bbbd794edaf

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Akademický článek

Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24

Autor: Veronika Ramovs, Ignacia Fuentes, Christian Freund, Harald Mikkers, Christine L. Mummery, Karine Raymond

Publikováno v: Stem Cell Research, Vol 57, Iss , Pp 102582- (2021)

Fibroblasts from two patients carrying a heterozygous mutation in the translation initiation codon (c.2 T > G) of the kelch-like protein 24 (KLHL24) gene were used to generate human induced pluripotent stem cells (hiPSCs), using non-integrating Senda

Externí odkaz: https://doaj.org/article/4ba238b09fea4e21abaf8fc5682b0447

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Akademický článek

Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

Autor: Blanca Urzúa, Susanne Krämer, Irene Morales-Bozo, Claudia Camacho, María Joao Yubero, Francis Palisson, Ignacia Fuentes, Ana Ortega-Pinto

Publikováno v: Frontiers in Dental Medicine, Vol 2 (2021)

Background: Epidermolysis bullosa (EB) corresponds to a series of conditions characterized by extreme fragility of the skin and/or mucous membranes. Of the four main types of EB, junctional EB (JEB) is the most associated with alterations in the teet

Externí odkaz: https://doaj.org/article/f0f53c89356e44b18e66a736faf2e308

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