Lista de obras -

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration ⬇️

artículo científico publicado el 24 de febrero de 2011

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa ⬇️

artículo científico publicado el 10 de septiembre de 2010

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

artículo científico publicado en 2016

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

artículo científico publicado en 2016

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma

artículo científico publicado en 2024

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2010

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene

scientific journal article

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

artículo científico publicado en 2004

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion

scientific journal article

Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene ⬇️

artículo científico publicado el 17 de enero de 2012

Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease ⬇️

artículo científico publicado el 17 de mayo de 2011

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

artículo científico publicado en 2003

Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina

artículo científico publicado en 2003

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

artículo científico publicado en 2012

GNAT1 associated with autosomal recessive congenital stationary night blindness

artículo científico publicado en 2012

Genetic Architecture of Primary Open Angle Glaucoma in Individuals of African Descent: The African Descent & Glaucoma Evaluation Study (ADAGES) III

article

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

artículo científico publicado en 2017

Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration ⬇️

artículo científico publicado el 1 de octubre de 2012

Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration

artículo científico publicado en 2010

Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome

artículo científico publicado en 2017

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

artículo científico publicado en 2005

Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1

artículo científico publicado en 2019

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

scientific article published on 16 January 2019

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

artículo científico publicado en 2014

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

artículo científico publicado en 2005

Possible association between long anterior lens zonules and plateau iris configuration

artículo científico publicado en 2008

Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model

artículo científico publicado en 2015

Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation.

artículo científico publicado en 2011

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

artículo científico publicado en 2005

Silencing the Expression of CTRP5/C1QTNF5 and ELOVL4 Genes by Small Interfering RNA ⬇️

artículo científico publicado el 1 de enero de 2012

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes

artículo científico publicado en 2005

Status of B-Vitamins and Homocysteine in Diabetic Retinopathy: Association with Vitamin-B12 Deficiency and Hyperhomocysteinemia ⬇️

artículo científico publicado el 1 de enero de 2011

The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data

artículo científico publicado en 2018

Lista de obras de

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration ⬇️

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa ⬇️

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion

Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene ⬇️

Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease ⬇️

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

GNAT1 associated with autosomal recessive congenital stationary night blindness

Genetic Architecture of Primary Open Angle Glaucoma in Individuals of African Descent: The African Descent & Glaucoma Evaluation Study (ADAGES) III

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration ⬇️

Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration

Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

Possible association between long anterior lens zonules and plateau iris configuration

Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model

Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation.

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

Silencing the Expression of CTRP5/C1QTNF5 and ELOVL4 Genes by Small Interfering RNA ⬇️

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes

Status of B-Vitamins and Homocysteine in Diabetic Retinopathy: Association with Vitamin-B12 Deficiency and Hyperhomocysteinemia ⬇️

The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data