about
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia functionExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaVisual impairment in the absence of dystroglycanConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformBbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control studyMkks-null mice have a phenotype resembling Bardet-Biedl syndromeA mutation in the mouse ttc26 gene leads to impaired hedgehog signalingMouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologiesPredicting the pathogenicity of RPE65 mutations.Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in micePrioritization of retinal disease genes: an integrative approachIdentical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.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.Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.Evaluation of variants in the selectin genes in age-related macular degeneration.Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.Transcriptome changes in age-related macular degeneration.Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen.The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning.Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathyRetinal neurodegeneration may precede microvascular changes characteristic of diabetic retinopathy in diabetes mellitus.Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-SeqLipofuscin in human glaucomatous optic nerves.Complement component C5a activates ICAM-1 expression on human choroidal endothelial cellsVitritis in pediatric genetic retinal disordersCopy number variations on chromosome 12q14 in patients with normal tension glaucomaChoriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degenerationDecreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration.Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.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.Gene therapy using stem cellsEffect of internal limiting membrane abrasion on retinal tissues in macular holesStem cells as tools for studying the genetics of inherited retinal degenerations.Validity of Automated Choroidal Segmentation in SS-OCT and SD-OCTCharacterization of Choroidal Layers in Normal Aging Eyes Using Enface Swept-Source Optical Coherence TomographyTUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study.Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
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description
researcher
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wetenschapper
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հետազոտող
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name
Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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Robert F. Mullins
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P106
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7102416308
P21
P31
P496
0000-0002-5006-0891