RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Gene chip microarray analysis demonstrated downregulated expression of the gamma-synuclein gene in DBA/2J mice as they developed age-associated glaucoma with concomitant with retinal ganglion cell loss. 31463876 2020
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE We previously demonstrated that monocyte-like cells enter the optic nerve head in an ocular hypertensive mouse model of glaucoma (DBA/2 J), but their roles, if any, in mediating axon damage remain unclear. 30670050 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE Previously, we performed transcriptional profiling in DBA/2J (D2) mice, a widely used mouse model relevant to glaucoma. 31369031 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE In this study, we investigated whether the metabolic vulnerability observed during optic neuropathy in the DBA/2J (D2) model of glaucoma is due to dysfunctional mitochondria or impaired substrate delivery to axons, the latter based on our observation of significantly decreased glucose and monocarboxylate transporters in D2 optic nerve (ON), human ON, and mice subjected to acute glaucoma injury. 29760184 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE These data suggest that neurophysiological deficits in the DBA/2J may be due to defects in intact axons and targeting node pathology may be a promising intervention for some types of glaucoma. 30149050 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE We show in DBA/2J mice with spontaneous IOP elevation and glaucoma that the lifespan of functional RGCs can be extended by preconditioning RGCs with retrobulbar lidocaine in one eye at four months of age that temporary blocks RGC axonal transport. 29342845 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE Using DBA/2J mice as a model of glaucoma and DBA/2J-Gpnmb+ as a nonglaucomatous control, the relationship between MT disruption and morphology was quantitatively examined as a function of age and sex in the fresh retinal wholemounts. 30383181 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE DBA/2J mice that develop glaucoma with age were also acquired. 29294337 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE To determine if bone marrow-derived stem cell (BMSC) small extracellular vesicles (sEV) promote retinal ganglion cell (RGC) neuroprotection in the genetic DBA/2J mouse model of glaucoma for 12 months. 30452601 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE The DBA/2J mouse has been described as a model for congenital experimental glaucoma. 28516453 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE The present study examines the differential expression of <i>Sox11</i> and <i>Bdnf</i> mRNA isoforms in the PNS and CNS using three experimental paradigms at different time points: (i) the acutely injured CNS (retina after optic nerve crush) and PNS (dorsal root ganglion after sciatic nerve crush), (ii) a CNS regeneration model (retina after optic nerve crush and induced regeneration); and (iii) the retina during a chronic form of central neurodegeneration (the DBA/2J glaucoma model). 29209164 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE The beneficial effects of neuroglobin in DBA/2J retinas confirm this protein to be a promising candidate for treating glaucoma. 28540323 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE Although the GpnmbR150X mutation leads to increased IOP and glaucoma in DBA/2J mice, development of anterior segment and retinal defects in D2.Ppcd1 animals does not depend upon presence of the GpnmbR150X mutation. 28981549 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE There are no studies on purinergic receptors in the DBA/2J model of glaucoma and their relation to the development of the pathology, so the aim of this study was to make an approach to the purinergic mechanisms involved in glaucoma. 29085298 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE Remarkably, one-time intraocular adeno-associated virus-mediated gene delivery of sFasL provides complete and sustained neuroprotection in the chronic DBA/2J and acute microbead-induced models of glaucoma, even in the presence of elevated intraocular pressure. 27849168 2016
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE The identification of a mutation in the IL-20RB gene in a glaucoma pedigree and changes in expression levels of IL-20 family members in the DBA/2J mouse suggest that disruption of normal IL-20 signaling in the eye may contribute to degenerative processes associated with glaucoma. 26903709 2016
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Here, the impact of the Akita mutation on glaucoma was assessed using DBA/2J (D2) mice, a widely used mouse model of ocular hypertension induced glaucoma. 25207540 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE This study was specifically designed to identify early stages of glaucoma in DBA/2J mice. 21383504 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 GeneticVariation disease BEFREE Here we address this critical element in DBA/2J (D2) mice, an established model of chronic inherited glaucoma, using as a control the congenic substrain DBA/2J Gpnmb(+/SjJ) (D2G), which is not affected by glaucoma. 21246546 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE DBA/2J (D2) mice develop an age-related form of glaucoma. 16827931 2006
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease BEFREE Despite the phenotypic similarity between the glaucoma in the DBA/2J mouse and human pigmentary glaucoma, the results of this study suggest that DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans. 12011806 2002