ArticleInternational journal of molecular sciences2024
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, Carmen Méndez-Hernández, Laura Morales-Fernández, Iñaki Leal Palmer, Miguel Coca-Prados, Jose-Maria Martinez-de-la-Casa and 2 more
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In one paragraphArticle in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
12 authors.
Angel TevarÁrea de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.
José-Daniel Aroca-AguilarÁrea de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.ORCID 0000-0001-6487-1612 Juan-Manuel Bonet-FernándezÁrea de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.ORCID 0000-0002-8658-1592 Raquel Atienzar-ArocaÁrea de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.
Ezequiel Campos-MolloCooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Carmen Méndez-HernándezCooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain.ORCID 0000-0003-3413-5248 Laura Morales-FernándezCooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Iñaki Leal PalmerServicio de Oftalmología, Hospital Virgen de los Lirios, 03804 Alcoy, Spain.
Miguel Coca-PradosDepartment of Ophthalmology and Visual Science, Yale University Medical School, New Haven, CT 06510, USA.
Jose-Maria Martinez-de-la-CasaCooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Julian Garcia-FeijooCooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Julio EscribanoÁrea de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.ORCID 0000-0002-8919-8134 Funding
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana UGP-21-227Instituto de Salud Carlos III : RD16/0008/0019, OFTARED, PI19/00208, RD16/0008/0004, and PI19/01431Regional Government of Castile-La Mancha SBPLY/17/180501/000404University of Castilla-La Mancha 2022-GRIN-34136 and 2020-PREDUCLM-16605
6 · The paper itselfAbstract
Childhood glaucoma encompasses congenital and juvenile primary glaucoma, which are heterogeneous, uncommon, and irreversible optic neuropathies leading to visual impairment with a poorly understood genetic basis. Our goal was to identify gene variants associated with these glaucoma types by assessing the mutational burden in 76 matrix metalloproteinase-related genes. We studied 101 childhood glaucoma patients with no identified monogenic alterations using next-generation sequencing. Gene expression was assessed through immunohistochemistry. Functional analysis of selected gene variants was conducted in cultured cells and in zebrafish. Patients presented a higher proportion of rare variants in four metalloproteinase-related genes, including
Indexed as
GlaucomaZebrafishADAMTS ProteinsAdolescentAnimalsChildChild, PreschoolEndoplasmic Reticulum StressFemaleGenetic Predisposition to DiseaseHEK293 CellsHumansInfantMaleMatrix MetalloproteinasesMutationADAMTS ProteinsMatrix MetalloproteinasesZebrafish Proteinsglaucomamatrix metalloproteinasesmultifactorial inheritance
Identifiers
PMID38891949
PMCPMC11171635
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