Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Marina Moya"'
Autor:
Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J. F. Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako
Publikováno v:
Cell Death and Disease, Vol 15, Iss 10, Pp 1-17 (2024)
Abstract Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is highly regulated in tissue- and development-specific patterns. Retinal tissue exhibits one of the highest levels of AS. In particular, photorecept
Externí odkaz:
https://doaj.org/article/6ac21c2cb7924f1387437c17d929f6bd
Autor:
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton J. R. Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F. Inglehearn, Martin McKibbin, Reinhard Lührmann, David H. Steel, David J. Elliott, Lyle Armstrong, Henning Urlaub, Robin R. Ali, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Sina Mozaffari-Jovin, Majlinda Lako
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used pat
Externí odkaz:
https://doaj.org/article/543dcbabd0154436a3a7c83f1dd4c6bd
Autor:
Birthe Dorgau, Joseph Collin, Agata Rozanska, Veronika Boczonadi, Marina Moya-Molina, Adrienne Unsworth, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Lyle Armstrong, Rachel Queen, Majlinda Lako
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109397- (2024)
Summary: Molecular information on the early stages of human retinal development remains scarce due to limitations in obtaining early human eye samples. Pluripotent stem cell-derived retinal organoids (ROs) provide an unprecedented opportunity for stu
Externí odkaz:
https://doaj.org/article/75b0f3cd2f454035b6357992656fba5c
Autor:
Paula Cadenas-Garrido, Ailén Schonvandt-Alarcos, Lourdes Herrera-Quintana, Héctor Vázquez-Lorente, Alicia Santamaría-Quiles, Jon Ruiz de Francisco, Marina Moya-Escudero, David Martín-Oliva, Sandra M. Martín-Guerrero, César Rodríguez-Santana, Jerónimo Aragón-Vela, Julio Plaza-Diaz
Publikováno v:
Antioxidants, Vol 13, Iss 1, p 127 (2024)
Antioxidant defenses in biological systems ensure redox homeostasis, regulating baseline levels of reactive oxygen and nitrogen species (ROS and RNS). Oxidative stress (OS), characterized by a lack of antioxidant defenses or an elevation in ROS and R
Externí odkaz:
https://doaj.org/article/f3666cdaa57b41068856727fd7501685
Autor:
Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin, Majlinda Lako
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 3, Pp n/a-n/a (2022)
Abstract Introduction Mutations in pre‐mRNA processing factor 31 (PRPF31), a core protein of the spliceosomal tri‐snRNP complex, cause autosomal‐dominant retinitis pigmentosa (adRP). It has remained an enigma why mutations in ubiquitously expre
Externí odkaz:
https://doaj.org/article/d0deada325104e39a8d523ef7fabc4d6
Autor:
Berta de la Cerda, Andrea Díez-Lloret, Beatriz Ponte, Laura Vallés-Saiz, Sofia M. Calado, Eduardo Rodríguez-Bocanegra, Ana B. Garcia-Delgado, Marina Moya-Molina, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 36, Iss , Pp - (2019)
PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retini
Externí odkaz:
https://doaj.org/article/bbbee2807e8843b19c94bf566e287f42
Publikováno v:
Revista de Derecho Privado (Bogota. 1997), Iss 34 (2018)
El presente trabajo constituye un análisis sobre el diagnóstico genético preimplantacional (DGP) practicado en España y las leyes que lo regulan. El trabajo, en primer lugar, explica y define el diagnóstico genético preimplantacional, incluyend
Externí odkaz:
https://doaj.org/article/2fba9f6fc34b4d9e94ba7b0899ae82b2
Akademický článek
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Autor:
Collin, Joseph, Queen, Rachel, Zerti, Darin, Bojic, Sanja, Dorgau, Birthe, Moyse, Nicky, Molina, Marina Moya, Yang, Chunbo, Dey, Sunanda, Reynolds, Gary, Hussain, Rafiqul, Coxhead, Jonathan M., Lisgo, Steven, Henderson, Deborah, Joseph, Agatha, Rooney, Paul, Ghosh, Saurabh, Clarke, Lucy, Connon, Che, Haniffa, Muzlifah, Figueiredo, Francisco, Armstrong, Lyle, Lako, Majlinda
Publikováno v:
In The Ocular Surface July 2021 21:279-298
Akademický článek
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