Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Maitane Ezquerra-Inchausti"'
1
SOX2 haploinsufficiency promotes impaired vision at advanced age
Autor: Leire Moreno-Cugnon, Pedro de la Villa, Javier Ruiz-Ederra, Maitane Ezquerra-Inchausti, Ander Anasagasti, Ander Matheu, Ander Izeta
Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Oncotarget
Age-related vision loss has been associated with degeneration of the retina and decline in Müller glia cell activity. Sox2 is a critical transcription factor for the development and maintenance of the mammalian retina. Here we determined the role of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac05c243d423d1e2e355d08782a748e
https://doi.org/10.18632/oncotarget.26393
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2
A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies
Autor: Garazi Egiguren, Olatz Barandika, Cristina Irigoyen, Maitane Ezquerra-Inchausti, Javier Ruiz-Ederra, Adolfo López de Munain, Ander Anasagasti
Publikováno v: Ophthalmic Research. 56:123-131
Objective: We developed a simple, time- and cost-effective Excel-based genetic screening strategy for the diagnosis of inherited retinal dystrophies (IRD). Design: 76 patients diagnosed with IRD and 112 nonaffected family members, from 55 unrelated f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d851289bfb8672cbe85a69ec674e2a87
https://doi.org/10.1159/000445690
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4
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
Autor: Cristina Irigoyen, Gonzaga Garay-Aramburu, Marta Barandiarán Galdós, Maitane Ezquerra-Inchausti, Adolfo López de Munain, Javier Ruiz-Ederra, Ander Anasagasti, Olatz Barandika
Publikováno v: Scientific Reports
Addi. Archivo Digital para la Docencia y la Investigación
instname
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. This heterogeneity both at t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54acc8bf0458165544c97f8f09979394
http://hdl.handle.net/10810/30000
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5
Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
Autor: Olatz Barandika, Gonzaga Garay-Aramburu, Maitane Ezquerra-Inchausti, Marta Barandiarán Galdós, Ander Anasagasti, Cristina Irigoyen, Adolfo López de Munain, Javier Ruiz-Ederra
Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-2 (2019)
Scientific Reports
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. This heterogeneity both at t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d9dfbbd9318ed037a2ed00b0fdfbf9
http://link.springer.com/article/10.1038/s41598-019-44425-7
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6
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
Autor: Ander Anasagasti, Cristina Irigoyen, Adolfo López de Munain, Javier Ruiz-Ederra, Maitane Ezquerra-Inchausti, Olatz Barandika
Publikováno v: Scientific Reports
Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7da23bbfb4d3f88f4dfb1b12c6ee5fd
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7
Increased aquaporin 1 and 5 membrane expression in the lens epithelium of cataract patients
Autor: Txomin Alberdi, Olatz Barandika, Lucia Bascaran, Ander Anasagasti, Javier Ruiz-Ederra, Javier Mendicute, Irantzu Llarena, Ainara Vallejo-Illarramendi, Maitane Ezquerra-Inchausti, Giacomo De Benedetti
Publikováno v: Biochimica et biophysica acta. 1862(10)
In this work we have analyzed the expression levels of the main aquaporins (AQPs) expressed in human lens epithelial cells (HLECs) using 112 samples from patients treated with cataract surgery and 36 samples from individuals treated with refractive s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf8d5add2e5bac38ccf1199be164f5e
https://pubmed.ncbi.nlm.nih.gov/27497833
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8
Akademický článek
Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Autor: Ezquerra-Inchausti, Maitane1,2 (AUTHOR), Anasagasti, Ander1 (AUTHOR), Barandika, Olatz1 (AUTHOR), Garay-Aramburu, Gonzaga3 (AUTHOR), Galdós, Marta4 (AUTHOR), López de Munain, Adolfo1,5,6,7 (AUTHOR), Irigoyen, Cristina1,8 (AUTHOR) cristina.irigoyenlaborra@osakidetza.eus, Ruiz-Ederra, Javier1,2 (AUTHOR) javier.ruizederra@osakidetza.eus
Publikováno v: Scientific Reports. 5/27/2019, Vol. 9 Issue 1, pN.PAG-N.PAG. 1p.
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