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Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes.
Int J Mol Sci. 2021 Jun 16;22(12):6430. doi: 10.3390/ijms22126430.
Int J Mol Sci. 2021.
PMID: 34208498
Free PMC article.
Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo C, Ferre-Fernández JJ, Aroca-Aguilar JD, Bonet-Fernández JM, Escribano J.
Medina-Trillo C, et al. Among authors: bonet fernandez jm.
Acta Ophthalmol. 2016 Nov;94(7):e555-e560. doi: 10.1111/aos.13017. Epub 2016 Apr 6.
Acta Ophthalmol. 2016.
PMID: 27060699
Free article.
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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J.
Bonet-Fernández JM, et al.
Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9.
Hum Genet. 2020.
PMID: 32274568
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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.
Atienzar-Aroca R, Ferre-Fernández JJ, Tevar A, Bonet-Fernández JM, Cabañero MJ, Ruiz-Pastor MJ, Cuenca N, Aroca-Aguilar JD, Escribano J.
Atienzar-Aroca R, et al. Among authors: bonet fernandez jm.
Int J Mol Sci. 2022 Sep 1;23(17):9989. doi: 10.3390/ijms23179989.
Int J Mol Sci. 2022.
PMID: 36077382
Free PMC article.
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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.
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J.
Ferre-Fernández JJ, et al. Among authors: bonet fernandez jm.
Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175.
Sci Rep. 2017.
PMID: 28397860
Free PMC article.
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Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
Morales-Cámara S, Alexandre-Moreno S, Bonet-Fernández JM, Atienzar-Aroca R, Aroca-Aguilar JD, Ferre-Fernández JJ, Méndez CD, Morales L, Fernández-Sánchez L, Cuenca N, Coca-Prados M, Martínez-de-la-Casa JM, Garcia-Feijoo J, Escribano J.
Morales-Cámara S, et al. Among authors: bonet fernandez jm.
Genes (Basel). 2020 May 14;11(5):550. doi: 10.3390/genes11050550.
Genes (Basel). 2020.
PMID: 32422965
Free PMC article.
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Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation.
Atienzar-Aroca R, Aroca-Aguilar JD, Alexandre-Moreno S, Ferre-Fernández JJ, Bonet-Fernández JM, Cabañero-Varela MJ, Escribano J.
Atienzar-Aroca R, et al. Among authors: bonet fernandez jm.
Biology (Basel). 2021 Jan 30;10(2):98. doi: 10.3390/biology10020098.
Biology (Basel). 2021.
PMID: 33573230
Free PMC article.
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Seizures regulate the cation-Cl- cotransporter NKCC1 in a hamster model of epilepsy: implications for GABA neurotransmission.
Bonet-Fernández JM, Tranque P, Aroca-Aguilar JD, Muñoz LJ, López DE, Escribano J, de Cabo C.
Bonet-Fernández JM, et al.
Front Neurol. 2023 Jun 22;14:1207616. doi: 10.3389/fneur.2023.1207616. eCollection 2023.
Front Neurol. 2023.
PMID: 37448751
Free PMC article.
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