Publications by authors named "Julio Escribano"

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Zebrafish adamtsl4 knockout recapitulates key features of human ADAMTSL4-related diseases: a gene involved in extracellular matrix organization, cell junctions and development.
Angel Tevar, Jose-Daniel Aroca-Aguilar, Raquel Atiénzar-Aroca, Ana I Ramírez, José A Fernández-Albarral, Julio Escribano

Exp Eye Res· October 2025

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Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Alexandra Ruiz Guijosa, Laura Morales Fernández, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo

Ophthalmic Genet· August 2024

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The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.
Angel Tevar, José-Daniel Aroca-Aguilar, Juan-Manuel Bonet-Fernández, Raquel Atienzar-Aroca, Ezequiel Campos-Mollo, Julio Escribano

Int J Mol Sci· May 2024

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Seizures regulate the cation-Cl cotransporter NKCC1 in a hamster model of epilepsy: implications for GABA neurotransmission.
Juan-Manuel Bonet-Fernández, Pedro Tranque, Jose Daniel Aroca-Aguilar, Luis J Muñoz, Dolores E López, Julio Escribano

Front Neurol· June 2023

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Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish.
Raquel Atienzar-Aroca, Jesús-José Ferre-Fernández, Angel Tevar, Juan-Manuel Bonet-Fernández, María-José Cabañero, Julio Escribano

Int J Mol Sci· September 2022

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RNA and protein expression analysis of HLA-DQB1*03:01:01:21Q allele: A null allele renamed as HLA-DQB1*03:01:01:21N.
Luis Alberto Marin Rubio, Jose Daniel Aroca-Aguilar, Mar Luis-Hidalgo, Julio Escribano, Jesus Ontañon

HLA· March 2022

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Null Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes.
Susana Alexandre-Moreno, Juan-Manuel Bonet-Fernández, Raquel Atienzar-Aroca, José-Daniel Aroca-Aguilar, Julio Escribano

Int J Mol Sci· June 2021

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Knockout of Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation.
Raquel Atienzar-Aroca, José-Daniel Aroca-Aguilar, Susana Alexandre-Moreno, Jesús-José Ferre-Fernández, Juan-Manuel Bonet-Fernández, Julio Escribano

Biology (Basel)· January 2021

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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Juan-Manuel Bonet-Fernández, José-Daniel Aroca-Aguilar, Marta Corton, Ana-Isabel Ramírez, Susana Alexandre-Moreno, Julio Escribano

Hum Genet· October 2020

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Role of in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
Samuel Morales-Cámara, Susana Alexandre-Moreno, Juan-Manuel Bonet-Fernández, Raquel Atienzar-Aroca, José-Daniel Aroca-Aguilar, Julio Escribano

Genes (Basel)· May 2020

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Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Susana Alexandre-Moreno, Laura Morales, Julio Escribano

PLoS One· October 2019

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Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Ezequiel Campos-Mollo, Yago Varela-Conde, Pedro Arriola-Villalobos, Rubén Cabrera-Beyrouti, José-Manuel Benítez-Del-Castillo, Julio Escribano

Clin Exp Ophthalmol· September 2019

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Identification of myocilin as a blood plasma protein and analysis of its role in leukocyte adhesion to endothelial cell monolayers.
José-Daniel Aroca-Aguilar, Ana Fernández-Navarro, Jesús Ontañón, Miguel Coca-Prados, Julio Escribano

PLoS One· May 2019

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Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.
Gerardo Pedro García-García, Magdalena Martínez-Rubio, Medina-Azahara Moya-Moya, Juan José Pérez-Santonja, Julio Escribano

Acta Ophthalmol· November 2018

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Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.
Montserrat García, Lydia Álvarez, Ángela Fernández, Héctor González-Iglesias, Julio Escribano

Ophthalmic Genet· December 2017

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Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
María T García-Antón, Juan J Salazar, Rosa de Hoz, Blanca Rojas, Ana I Ramírez, Julio Escribano

PLoS One· September 2017

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Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model.
Ana I Prieto-Martín, J Daniel Aroca-Aguilar, Francisco Sánchez-Sánchez, Luis J Muñoz, Dolores E López, Julio Escribano

Epilepsy Behav· June 2017

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Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, Juan-Manuel Bonet-Fernández, Carmen-Dora Méndez-Hernández, Julio Escribano

Sci Rep· April 2017

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Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Cristina Medina-Trillo, Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Juan-Manuel Bonet-Fernández, Julio Escribano

Acta Ophthalmol· November 2016

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The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations.
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales, Julio Escribano

Microrna· June 2016

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Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julio Escribano

Eur J Hum Genet· May 2016

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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Cristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Laura Morales, Julio Escribano

PLoS One· March 2016

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Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations.
Laura Morales-Fernandez, Jose M Martinez-de-la-Casa, Javier Garcia-Bella, Carmen Mendez, Federico Saenz-Frances, Julio Escribano

J Glaucoma· January 2016

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CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.
Montserrat García, Lydia Álvarez, Alicja M Nogacka, Héctor González-Iglesias, Julio Escribano

Acta Ophthalmol· December 2015

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LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.
Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Julio Escribano, Pedro P Rodríguez-Calvo

BMC Med Genet· August 2015

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