Lista de obras - Eric A Pierce - Dominio Público Uruguay

A local complement response by RPE causes early-stage macular degeneration.

artículo científico publicado en 2015

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration

artículo científico publicado en 2014

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

artículo científico publicado en 2016

A radiometric immunosorbent assay for the detection of anti-hormone-binding protein antibodies

scientific article published on 01 February 1986

AAV2 gene therapy readministration in three adults with congenital blindness.

artículo científico publicado en 2012

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

artículo científico publicado en 2009

Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre.

artículo científico publicado en 2006

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

artículo científico publicado en 2014

CRB1: one gene, many phenotypes

artículo científico

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

artículo científico publicado en 2003

Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species

artículo científico publicado en 2007

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)

scientific article published on 01 September 2001

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM).

artículo científico publicado en 2011

Controversies in the management of retinopathy of prematurity

scientific article published on 01 January 1994

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

artículo científico publicado en 2016

Course of Ocular Function in PRPF31 Retinitis Pigmentosa.

artículo científico publicado en 2016

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

artículo científico publicado en 2008

Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting

artículo científico publicado en 2006

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

scientific article published on 01 June 2000

Exome-based mapping and variant prioritization for inherited Mendelian disorders

scientific article published on 20 February 2014

Expression and activation of STAT3 in ischemia-induced retinopathy

artículo científico publicado en 2005

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

artículo científico publicado en 2012

Extracellular Matrix Alterations and Deposit Formation in AMD.

artículo científico

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

artículo científico publicado en 2009

Genetic testing for inherited eye disease: who benefits?

artículo científico publicado en 2013

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

artículo científico publicado en 1990

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

artículo científico publicado en 2002

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing

artículo científico publicado en 2011

Identification of the porcine intestinal 1,25-dihydroxyvitamin D3 receptor on sodium dodecyl sulfate/polyacrylamide gels by renaturation and immunoblotting

scientific article published on December 1985

Isolation, culture and characterization of primary mouse RPE cells.

artículo científico publicado en 2016

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish

scientific journal article

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

artículo científico publicado en 2012

Monoclonal antibodies to the porcine intestinal receptor for 1,25-dihydroxyvitamin D3: interaction with distinct receptor domains

artículo científico publicado en 1986

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

scientific article published on 17 May 2016

Mouse embryonic stem cells efficiently lipofected with nuclear localization peptide result in a high yield of chimeric mice and retain germline transmission potency

artículo científico publicado en 2004

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration

artículo científico publicado en 2013

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

artículo científico publicado en 2014

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

artículo científico publicado en 2016

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

artículo científico publicado en 2010

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

artículo científico publicado en 1999

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium

artículo científico publicado en 2014

NMNAT1 mutations cause Leber congenital amaurosis

artículo científico publicado en 2012

Oligodeoxynucleotides inhibit retinal neovascularization in a murine model of proliferative retinopathy

artículo científico publicado en 1996

Oligonucleotide-directed single-base DNA alterations in mouse embryonic stem cells

artículo científico publicado en 2003

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

artículo científico publicado en 2014

Paradigm Shifts in Ophthalmic Diagnostics

scientific article published on August 2016

Photoreceptor sensory cilia and inherited retinal degeneration

artículo científico publicado en 2010

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease ⬇️

artículo científico publicado el 15 de diciembre de 1991

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

artículo científico publicado en 2010

Purification of human serum vitamin D-binding protein by 25-hydroxyvitamin D3-Sepharose chromatography.

artículo científico publicado en 1986

Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors

artículo científico publicado en 2004

RNA-Seq: Improving Our Understanding of Retinal Biology and Disease

artículo científico publicado en 2015

RP1 is required for the correct stacking of outer segment discs

scientific journal article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

artículo científico publicado en 2016

Regulation of the intestinal 1,25-dihydroxyvitamin D3 receptor during neonatal development in the rat

artículo científico publicado en 1988

Regulation of vascular endothelial growth factor by oxygen in a model of retinopathy of prematurity

artículo científico publicado en 1996

Retinal expression, regulation, and functional bioactivity of prostacyclin-stimulating factor

artículo científico publicado en 2000

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

artículo científico publicado en 2016

Safety and efficacy of gene transfer for Leber's congenital amaurosis

artículo científico publicado en 2008

Seeing the light

artículo científico publicado en 2013

Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes

artículo científico publicado en 2016

Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells

artículo científico publicado en 2008

Size and charge of the functional 1,25-dihydroxyvitamin D receptor in porcine intestine

artículo científico publicado en 1987

Specific double-stranded RNA interference in undifferentiated mouse embryonic stem cells

artículo científico publicado en 2001

Systemic diseases associated with retinal dystrophies

artículo científico publicado en 2014

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Targeted exon sequencing in Usher syndrome type I

artículo científico publicado en 2014

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa

artículo científico publicado en 2010

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

artículo científico publicado en 2011

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

The Status of RPE65 Gene Therapy Trials: Safety and Efficacy

artículo científico publicado en 2015

The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background

artículo científico publicado en 2008

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

artículo científico publicado en 2011

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

artículo científico publicado en 2013

Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa.

artículo científico publicado en 2012

Lista de obras de Eric A Pierce

A local complement response by RPE causes early-stage macular degeneration.

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

A radiometric immunosorbent assay for the detection of anti-hormone-binding protein antibodies

AAV2 gene therapy readministration in three adults with congenital blindness.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

CRB1: one gene, many phenotypes

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM).

Controversies in the management of retinopathy of prematurity

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Course of Ocular Function in PRPF31 Retinitis Pigmentosa.

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

Exome-based mapping and variant prioritization for inherited Mendelian disorders

Expression and activation of STAT3 in ischemia-induced retinopathy

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

Extracellular Matrix Alterations and Deposit Formation in AMD.

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

Genetic testing for inherited eye disease: who benefits?

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing

Identification of the porcine intestinal 1,25-dihydroxyvitamin D3 receptor on sodium dodecyl sulfate/polyacrylamide gels by renaturation and immunoblotting

Isolation, culture and characterization of primary mouse RPE cells.

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Monoclonal antibodies to the porcine intestinal receptor for 1,25-dihydroxyvitamin D3: interaction with distinct receptor domains

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

Mouse embryonic stem cells efficiently lipofected with nuclear localization peptide result in a high yield of chimeric mice and retain germline transmission potency

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium

NMNAT1 mutations cause Leber congenital amaurosis

Oligodeoxynucleotides inhibit retinal neovascularization in a murine model of proliferative retinopathy

Oligonucleotide-directed single-base DNA alterations in mouse embryonic stem cells

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Paradigm Shifts in Ophthalmic Diagnostics

Photoreceptor sensory cilia and inherited retinal degeneration

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease ⬇️

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Purification of human serum vitamin D-binding protein by 25-hydroxyvitamin D3-Sepharose chromatography.

Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors

RNA-Seq: Improving Our Understanding of Retinal Biology and Disease

RP1 is required for the correct stacking of outer segment discs

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Regulation of the intestinal 1,25-dihydroxyvitamin D3 receptor during neonatal development in the rat

Regulation of vascular endothelial growth factor by oxygen in a model of retinopathy of prematurity

Retinal expression, regulation, and functional bioactivity of prostacyclin-stimulating factor

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Seeing the light

Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes

Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells

Size and charge of the functional 1,25-dihydroxyvitamin D receptor in porcine intestine

Specific double-stranded RNA interference in undifferentiated mouse embryonic stem cells

Systemic diseases associated with retinal dystrophies

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Targeted exon sequencing in Usher syndrome type I

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

The Status of RPE65 Gene Therapy Trials: Safety and Efficacy

The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa.