Cargando…

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

CAPN5 Neovascular Inflammatory Vitreoretinopathy (CAPN5-NIV; OMIM 193235) is a poorly-understood rare, progressive inflammatory intraocular disease with limited therapeutic options. To profile disease effector proteins in CAPN5-NIV patient vitreous, liquid vitreous biopsies were collected from two g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Velez, Gabriel, Yang, Jing, Li, Angela S., Tsang, Stephen H., Bassuk, Alexander G., Mahajan, Vinit B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527583/ https://www.ncbi.nlm.nih.gov/pubmed/31110225 http://dx.doi.org/10.1038/s41598-019-44031-7

Ejemplares similares

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Rowell, Hannah A, et al.
Publicado: (2012)

Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy
por: Cham, Abdourahman, et al.
Publicado: (2016)

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay
por: Velez, Gabriel, et al.
Publicado: (2018)

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Mahajan, Vinit B, et al.
Publicado: (2013)

Surgical management of fibrotic encapsulation of the fluocinolone acetonide implant in CAPN5-associated proliferative vitreoretinopathy
por: Tlucek, Paul S, et al.
Publicado: (2013)

Structural Modeling of a Novel CAPN5 Mutation that Causes Uveitis and Neovascular Retinal Detachment
por: Bassuk, Alexander G., et al.
Publicado: (2015)

Proteomic analysis of elevated intraocular pressure with retinal detachment
por: Velez, Gabriel, et al.
Publicado: (2017)

Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases
por: Velez, Gabriel, et al.
Publicado: (2018)

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease
por: Velez, Gabriel, et al.
Publicado: (2018)

CAPN5 gene silencing by short hairpin RNA interference
por: Nelson, Nnamdi G, et al.
Publicado: (2014)

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site
por: Tang, Peter H., et al.
Publicado: (2019)

Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness
por: Velez, Gabriel, et al.
Publicado: (2020)

Proteomic analysis of intermediate uveitis suggests myeloid cell recruitment and implicates IL-23 as a therapeutic target
por: Sepah, Yasir J., et al.
Publicado: (2020)

Calpain-5 gene expression in the mouse eye and brain
por: Schaefer, Kellie, et al.
Publicado: (2017)

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration
por: Wert, Katherine J., et al.
Publicado: (2020)

Proteomic Analysis of Autoimmune Retinopathy Implicates Neuronal Cell Adhesion Molecule as a Potential Biomarker
por: Al-Moujahed, Ahmad, et al.
Publicado: (2022)

ProSave: an application for restoring quantitative data to manipulated subsets of protein lists
por: Machlab, Daniel A., et al.
Publicado: (2018)

Proteomic Insight into the Role of Exosomes in Proliferative Vitreoretinopathy Development
por: Nair, Gopa Kumar Gopinadhan, et al.
Publicado: (2022)

An anti-CAPN5 intracellular antibody acts as an inhibitor of CAPN5-mediated neuronal degeneration
por: Wang, Yan, et al.
Publicado: (2017)

Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells
por: Bassuk, Alexander G., et al.
Publicado: (2016)

T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy
por: Mahajan, Vinit B., et al.
Publicado: (2010)

Phenotypic variance in Calpain-5 retinal degeneration
por: Tang, Peter H., et al.
Publicado: (2020)

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia
por: Toral, Marcus A., et al.
Publicado: (2017)

Evisceration of Mouse Vitreous and Retina for Proteomic Analyses
por: Skeie, Jessica M., et al.
Publicado: (2011)

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
por: Liu, Katherine Y., et al.
Publicado: (2018)

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
por: Cox, Allison J., et al.
Publicado: (2017)

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants
por: Velez, Gabriel, et al.
Publicado: (2020)

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
por: Cox, Allison J., et al.
Publicado: (2017)

Proteomic Insight into the Molecular Function of the Vitreous
por: Skeie, Jessica M., et al.
Publicado: (2015)

Gene Therapy Restores Mfrp and Corrects Axial Eye Length
por: Velez, Gabriel, et al.
Publicado: (2017)

Capn5 Expression in the Healthy and Regenerating Zebrafish Retina
por: Coomer, Cagney E., et al.
Publicado: (2018)

Peptidomimetics Therapeutics for Retinal Disease
por: Parsons, Dylan E., et al.
Publicado: (2021)

The proteomic profile of a mouse model of proliferative vitreoretinopathy
por: Márkus, Bernadett, et al.
Publicado: (2017)

CAPN3: A muscle-specific calpain with an important role in the pathogenesis of diseases (Review)
por: Chen, Lin, et al.
Publicado: (2021)

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses
por: Schaefer, Kellie A., et al.
Publicado: (2016)

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
por: Cox, Allison J., et al.
Publicado: (2019)

An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis
por: Xu, Ningda, et al.
Publicado: (2023)

Prognostic Significance of Capn4 Overexpression in Intrahepatic Cholangiocarcinoma
por: Zhang, Chi, et al.
Publicado: (2013)

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
por: Cho, Ahra, et al.
Publicado: (2020)

Familial Exudative Vitreoretinopathy
por: Sızmaz, Selçuk, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_2k70sorco65v6hm2vf25mi9vei