List of works - Gabriel Velez

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

scientific article published on 22 February 2018

BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

scientific article published on 18 May 2016

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials

scientific article published on 26 August 2019

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

scientific article published on May 2016

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

scientific article published on 7 July 2017

Dissection of Human Retina and RPE-Choroid for Proteomic Analysis.

scientific article published on 12 November 2017

Evidence supporting a critical contribution of intrinsically disordered regions to the biochemical behavior of full-length human HP1γ.

scientific article

Evidence supporting the existence of a NUPR1-like family of helix-loop-helix chromatin proteins related to, yet distinct from, AT hook-containing HMG proteins

scientific article

Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface

scientific article published on 22 June 2018

Fibrin Glue and Internal Limiting Membrane Abrasion for Optic Disc Pit Maculopathy

scientific article published on 01 December 2018

Functional Characterization of Nupr1L, A Novel p53-Regulated Isoform of the High-Mobility Group (HMG)-Related Protumoral Protein Nupr1

scientific journal article

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans

scientific article published on 28 May 2019

Gene Therapy Restores Mfrp and Corrects Axial Eye Length

scientific article published on 23 November 2017

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation

scientific article published on 11 April 2019

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

scientific article published on 15 August 2018

Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa

scientific article published on 19 September 2019

OCULAR HYPERTENSION AFTER INTRAVITREAL DEXAMETHASONE (OZURDEX) SUSTAINED-RELEASE IMPLANT.

scientific article published in July 2017

Paracrine WNT5A Signaling Inhibits Expansion of Tumor-Initiating Cells

scientific article published on 13 March 2015

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease

article

Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target

scientific article published on 12 December 2017

Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.

scientific article published on 4 February 2016

ProSave: an application for restoring quantitative data to manipulated subsets of protein lists

scientific article published on 12 November 2018

Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

scientific article published on 3 January 2017

Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.

scientific article published on 21 February 2018

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

scientific article published on 20 May 2019

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

scientific article

Role for Krüppel-like transcription factor 11 in mesenchymal cell function and fibrosis

scientific article

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa

scientific article published on 18 December 2018

Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

scientific article published on 26 July 2016

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants

scientific article published on 01 January 2020

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia

scientific article

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

scientific article published on 21 December 2017

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site

scientific article published on 01 January 2019

List of works by Gabriel Velez

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Dissection of Human Retina and RPE-Choroid for Proteomic Analysis.

Evidence supporting a critical contribution of intrinsically disordered regions to the biochemical behavior of full-length human HP1γ.

Evidence supporting the existence of a NUPR1-like family of helix-loop-helix chromatin proteins related to, yet distinct from, AT hook-containing HMG proteins

Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface

Fibrin Glue and Internal Limiting Membrane Abrasion for Optic Disc Pit Maculopathy

Functional Characterization of Nupr1L, A Novel p53-Regulated Isoform of the High-Mobility Group (HMG)-Related Protumoral Protein Nupr1

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans

Gene Therapy Restores Mfrp and Corrects Axial Eye Length

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa

OCULAR HYPERTENSION AFTER INTRAVITREAL DEXAMETHASONE (OZURDEX) SUSTAINED-RELEASE IMPLANT.

Paracrine WNT5A Signaling Inhibits Expansion of Tumor-Initiating Cells

Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease

Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target

Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.

ProSave: an application for restoring quantitative data to manipulated subsets of protein lists

Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Role for Krüppel-like transcription factor 11 in mesenchymal cell function and fibrosis

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa

Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants

Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site