Filtros de búsqueda

Lista de obras de Robert F. Mullins

A Method for Sectioning and Immunohistochemical Analysis of Stem Cell-Derived 3-D Organoids

artículo científico publicado en 2016

A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling

scientific journal article

ASSESSMENT OF AAV SEROTYPE TROPISM IN HUMAN RETINAL EXPLANTS.

artículo científico publicado en 2017

AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS

article

Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.

artículo científico publicado en 2003

Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study

artículo científico publicado en 2015

Anti-γ-enolase autoimmune retinopathy manifesting in early childhood

artículo científico publicado en 2010

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

artículo científico publicado en 2008

Association of HLA class I and class II polymorphisms with age-related macular degeneration.

artículo científico publicado en 2005

Association of reduced Connexin 43 expression with retinal vascular lesions in human diabetic retinopathy.

artículo científico publicado en 2015

Autosomal Dominant Early Onset Aponeurotic Ptosis and Corneal Limbal Vascularization in a Three-generation Family

artículo científico publicado en 2007

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

artículo científico publicado en 2012

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

artículo científico publicado en 2006

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

artículo científico publicado en 2004

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

artículo científico publicado en 2007

Bestrophinopathy: An RPE-photoreceptor interface disease

artículo científico publicado en 2017

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

artículo científico publicado en 2014

CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY.

artículo científico publicado en 2017

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy

artículo científico publicado en 2014

Characterization of Choroidal Layers in Normal Aging Eyes Using Enface Swept-Source Optical Coherence Tomography

artículo científico publicado en 2015

Characterization of drusen-associated glycoconjugates

scientific article published on 01 February 1997

Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration

artículo científico publicado en 2011

Choroidal γδ T cells in protection against retinal pigment epithelium and retinal injury.

artículo científico

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

artículo científico publicado en 2017

Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure.

artículo científico publicado en 2004

Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

artículo científico publicado en 2015

Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration

artículo científico publicado en 2015

Comparison of the femtosecond laser (IntraLase) versus manual microkeratome (Moria ALTK) in dissection of the donor in endothelial keratoplasty: initial study in eye bank eyes

artículo científico publicado en 2008

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

artículo científico publicado en 2014

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells

artículo científico publicado en 2010

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease

artículo científico publicado en 2016

Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium

artículo científico publicado en 2017

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

artículo científico publicado en 2011

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.

artículo científico publicado en 2019

Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration.

artículo científico publicado en 2005

Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice

artículo científico publicado en 2011

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

article

Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).

artículo científico publicado en 2008

Drusen on Demand? Authors Describe a Novel Culture System for Generating subRPE Deposits.

artículo científico publicado en 2017

Effect of internal limiting membrane abrasion on retinal tissues in macular holes

artículo científico publicado en 2015

Effects of Antioxidant Components of AREDS Vitamins and Zinc Ions on Endothelial Cell Activation: Implications for Macular Degeneration ⬇️

artículo científico publicado el 27 de febrero de 2012

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes

artículo científico publicado en 2011

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

artículo científico publicado en 2007

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

article

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

artículo científico publicado en 2017

Evaluation of variants in the selectin genes in age-related macular degeneration

artículo científico publicado en 2011

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

artículo científico publicado en 2011

Exon-level expression profiling of ocular tissues

artículo científico publicado en 2013

Fcγ receptor upregulation is associated with immune complex inflammation in the mouse retina and early age-related macular degeneration.

scientific article published on 13 January 2014

Feeder-free differentiation of cells exhibiting characteristics of corneal endothelium from human induced pluripotent stem cells.

artículo científico publicado en 2018

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration

artículo científico publicado en 2006

From compliment to insult: genetics of the complement system in physiology and disease in the human retina. ⬇️

artículo científico publicado en 2017

Gene therapy using stem cells

artículo científico publicado en 2014

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

artículo científico publicado en 2002

Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration

artículo científico publicado en 2015

Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy

scientific article published on 14 August 2017

Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse

artículo científico publicado en 2005

Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.

artículo científico publicado en 2007

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

artículo científico publicado en 2015

Human ocular drusen possess novel core domains with a distinct carbohydrate composition

artículo científico publicado en 1999

Human photoreceptor outer segments shorten during light adaptation.

artículo científico publicado en 2013

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

artículo científico publicado en 2015

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

artículo científico publicado en 2006

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

artículo científico publicado en 2010

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

artículo científico publicado en 2014

Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration.

artículo científico publicado en 2014

Is age-related macular degeneration a microvascular disease?

artículo científico

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

artículo científico publicado en 2005

Lipofuscin in human glaucomatous optic nerves.

artículo científico publicado en 2013

Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration

artículo científico publicado en 2009

Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration

scientific article published on 01 February 2000

Loss of CD34 expression in aging human choriocapillaris endothelial cells

artículo científico publicado en 2014

Macrophages in neovascular age-related macular degeneration: friends or foes?

artículo científico publicado en 2008

Mechanical properties of murine and porcine ocular tissues in compression

scientific article published on 05 March 2014

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

scientific journal article

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration

artículo científico publicado en 2015

Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1).

artículo científico publicado en 2011

Monomeric C-reactive protein and inflammation in age-related macular degeneration

artículo científico publicado en 2016

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

scientific journal article

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

artículo científico publicado en 2015

Outer Segment Length in Different Best Disease Genotypes

article

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

artículo científico publicado en 2014

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa

artículo científico publicado en 2017

Photoreceptor cells with profound structural deficits can support useful vision in mice

artículo científico publicado en 2014

Predicting the pathogenicity of RPE65 mutations.

artículo científico publicado en 2009

Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies.

artículo científico publicado en 2017

Prevascularized silicon membranes for the enhancement of transport to implanted medical devices.

artículo científico publicado en 2015

Prioritization of retinal disease genes: an integrative approach

artículo científico publicado en 2013

Regional assessment of energy-producing metabolic activity in the endothelium of donor corneas

artículo científico publicado en 2015

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

scientific article published on December 2004

Retinal neurodegeneration may precede microvascular changes characteristic of diabetic retinopathy in diabetes mellitus

artículo científico publicado en 2016

Selection of Phototransduction Genes in Homo sapiens

scientific article published on 13 August 2013

Selective accumulation of the complement membrane attack complex in aging choriocapillaris

artículo científico publicado en 2015

Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis

artículo científico publicado en 2011

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

scientific article published on 11 November 2019

Stem cells as tools for studying the genetics of inherited retinal degenerations

artículo científico publicado en 2014

Stem cells for investigation and treatment of inherited retinal disease

artículo científico

Structural and biochemical analyses of choroidal thickness in human donor eyes.

scientific article published on 06 March 2014

Structural and molecular changes in the aging choroid: implications for age-related macular degeneration

artículo científico publicado en 2016

Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.

artículo científico publicado en 2001

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

artículo científico publicado en 2013

TBK1 and flanking genes in human retina.

artículo científico publicado en 2013

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

artículo científico publicado en 2012

The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning

artículo científico publicado en 2014

Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy

artículo científico publicado en 2011

Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen.

artículo científico publicado en 2012

Transcriptome changes in age-related macular degeneration.

artículo científico publicado en 2012

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

artículo científico publicado en 2014

Transgenic TBK1 mice have features of normal tension glaucoma

artículo científico publicado en 2016

Two-photon polymerization for production of human iPSC-derived retinal cell grafts.

artículo científico publicado en 2017

Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation

artículo científico publicado en 2012

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

artículo científico publicado en 2017

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

artículo científico publicado en 2016

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

artículo científico publicado en 2015

Validity of Automated Choroidal Segmentation in SS-OCT and SD-OCT

artículo científico publicado en 2015

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

artículo científico publicado en 2011

Visual impairment in the absence of dystroglycan

artículo científico publicado en 2009

Vitritis in pediatric genetic retinal disorders

artículo científico publicado en 2014

cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness

artículo científico publicado en 2016

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda