Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Teresa Jaijo"'
Autor:
Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102374- (2024)
Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) t
Externí odkaz:
https://doaj.org/article/a17a668f163e49dea766892e88041dc8
Autor:
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has re
Externí odkaz:
https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b
Autor:
Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Background and PurposePrimary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or a syndrome encompassing different neurodegenerative di
Externí odkaz:
https://doaj.org/article/fe4c71d0a774413c9e22a650a5cb7776
Autor:
Belén García Bohórquez, Elena Aller, Ana Rodríguez Muñoz, Teresa Jaijo, Gema García García, José M. Millán
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosi
Externí odkaz:
https://doaj.org/article/37aaab902e9d4f8ea36f8e06bd957726
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 129 (2022)
Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission e
Externí odkaz:
https://doaj.org/article/6df5695530af47cc96a99b78f6405d52
Autor:
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 8, Iss , Pp 529-541 (2017)
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recur
Externí odkaz:
https://doaj.org/article/f43fca243fef4f4a9973a953b7c526c3
Autor:
Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
BackgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in E
Externí odkaz:
https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727
Autor:
María José Aparisi, Gema García-García, Elena Aller, María Dolores Sequedo, Cristina Martínez-Fernández de la Cámara, Regina Rodrigo, Miguel Armengot, Julio Cortijo, Javier Milara, Manuel Díaz-LLopis, Teresa Jaijo, José María Millán
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e57506 (2013)
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighte
Externí odkaz:
https://doaj.org/article/6fd0c22f4c884109a0ff20713e5c5f00
Autor:
Cristina Martínez-Fernández de la Cámara, David Salom, Ma Dolores Sequedo, David Hervás, Cristina Marín-Lambíes, Elena Aller, Teresa Jaijo, Manuel Díaz-Llopis, José María Millán, Regina Rodrigo
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74223 (2013)
Retinitis Pigmentosa is a common form of hereditary retinal degeneration constituting the largest Mendelian genetic cause of blindness in the developed world. It has been widely suggested that oxidative stress possibly contributes to its pathogenesis
Externí odkaz:
https://doaj.org/article/aac30e91cbe6429c84751d2c3a7e13e4
Autor:
Henning Frenzel, Jörg Bohlender, Katrin Pinsker, Bärbel Wohlleben, Jens Tank, Stefan G Lechner, Daniela Schiska, Teresa Jaijo, Franz Rüschendorf, Kathrin Saar, Jens Jordan, José M Millán, Manfred Gross, Gary R Lewin
Publikováno v:
PLoS Biology, Vol 10, Iss 5, p e1001318 (2012)
In all vertebrates hearing and touch represent two distinct sensory systems that both rely on the transformation of mechanical force into electrical signals. There is an extensive literature describing single gene mutations in humans that cause heari
Externí odkaz:
https://doaj.org/article/360bf9d23f23471d9993f2ebcfcff354