Recent Submissions

  • CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix 

    Bonet Fernández, Juan Manuel; Aroca-Aguilar, Jose Daniel; Corton, Marta; Ramírez, Ana-Isabel; Alexandre-Moreno, Susana; García-Antón, María Teresa; Salazar Corral, Juan-José; Ferre Fernández, Jesús José; Atienzar-Aroca, Raquel; Villaverde, Cristina; Iancu, Ionut; Tamayo, Alejandra; Méndez, Carmen Dora; Morales Fernández, Laura; Rojas, Blanca; Ayuso, Carmen; Coca-Prados, Miguel; Martinez-de-la-Casa, Jose-Maria; García Feijoo, Julián; Escribano, Julio (Springer, 2020)
    Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this ...
  • Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation 

    Atienzar-Aroca, Raquel; Aroca-Aguilar, Jose Daniel; Alexandre-Moreno, Susana; Ferre Fernández, Jesús José; Bonet Fernández, Juan Manuel; Cabañero, Maria Jose; Escribano, Julio (MDPI, 2021-01-30)
    Myocilin is a secreted glycoprotein with a poorly understood biological function and it is mainly known as the first glaucoma gene. To explore the normal role of this protein in vivo we developed a myoc knockout (KO) ...
  • Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes 

    Alexandre-Moreno, Susana; Bonet Fernández, Juan Manuel; Atienzar-Aroca, Raquel; Aroca-Aguilar, Jose Daniel; Escribano, Julio (MDPI, 2021-06-16)
    CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal ...
  • Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish 

    Morales Cámara, Samuel; Alexandre-Moreno, Susana; Bonet Fernández, Juan Manuel; Atienzar-Aroca, Raquel; Aroca-Aguilar, Jose Daniel; Ferre Fernández, Jesús José; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Cuenca, Nicolás; Coca-Prados, Miguel; Martinez-de-la-Casa, Jose Maria; García Feijoo, Julián; Escribano, Julio (MDPI, 2020-05-14)
    Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family ...
  • The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations 

    Medina-Trillo, Cristina; Aroca-Aguilar, Jose Daniel; Ferre Fernández, Jesús José; Mendez-Hernandez, Carmen; Morales Fernández, Laura; Garcia Feijoo, Julian; Escribano, Julio (Bentham Science Publishers, 2015-04-01)
    Mutations of the FOXC1 transcription factor are involved in a variety of autosomal dominant ocular anterior segment defects, ranging from Axenfeld-Rieger malformations to isolated glaucoma in some patients. In this study ...
  • A critical analysis of extraction techniques used for botanicals: Trends, priorities, industrial uses and optimization strategies 

    Belwal, Tarun; Ezzat, Shahira M.; Rastrelli, Luca; Bhatt, Indra D.; Daglia, Maria; Baldi, Alessandra; Devkrota, Hari Prasad; Orhan, Ilkay Erdogan; Patra, Jayanta Kumar; Das, Gitishree; Anandharamakrishan, C.; Gomez-Gomez, Lourdes; Nabavi, Seyed Fazel; Nabavi, Seyed Mohammad; Atanasov, Atanas G. (Elsevier, 2018-01)
    Plant extracts have been long used by the traditional healers for providing health benefits and are nowadays suitable ingredient for the production of formulated health products and nutraceuticals. Traditional methods of ...
  • Phenolic profiling for traceability of Vanilla xtahitensis 

    Busconi, Matteo; Lucini, Luigi; Soffritti, Giovanna; Bernardi, Jamila; Bernardo, Letizia; Brunschwig, Christel; Lepers-Andrzejewski, Sandra; Raharivelomanana, Phila; Fernández Pérez, José Antonio (Frontiers, 2017-10-12)
    Vanilla is a flavoring recovered from the cured beans of the orchid genus Vanilla. Vanilla ×tahitensis is traditionally cultivated on the islands of French Polynesia, where vanilla vines were first introduced during the ...
  • Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development 

    Ferre Fernández, Jesús José; Aroca-Aguilar, Jose Daniel; Medina Trillo, Cristina; Bonet Fernández, Juan Manuel; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Cortón, Marta; Cabañero Valera, María José; Gut, Marta; Tonda, Raúl; Ayuso, Carmen; Coca-Prados, Miguel; García Feijoo, Julián; Escribano, Julio (Nature Publishing Group, 2017-04-11)
    Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing ...