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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Cell stem cell, 2016-06, Vol.18 (6), p.769-781

2016

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Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

Stem cell reports, 2020-07, Vol.15 (1), p.67-79

2020

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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Human molecular genetics, 2017-07, Vol.26 (13), p.2480-2492

2017

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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Human molecular genetics, 2015-02, Vol.24 (4), p.972-986

2015

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The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

Human molecular genetics, 2010-04, Vol.19 (7), p.1358-1367

2010

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Hsp90 inhibition protects against inherited retinal degeneration

Human molecular genetics, 2014-04, Vol.23 (8), p.2164-2175

2014

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The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium

PloS one, 2015-03, Vol.10 (3), p.e0121440-e0121440

2015

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Adrenomedullin increases the expression of calcitonin-like receptor and receptor activity modifying protein 2 mRNA in human microvascular endothelial cells

Journal of endocrinology, 2006-08, Vol.190 (2), p.505-514

2006

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New Translational Screening Assay with Phenotypic and Transcriptomic Readouts Using Induced Pluripotent Stem Cell (iPSC)-Derived Cells and Organoids from a Nephrotic Syndrome Patient: SA-PO008

Journal of the American Society of Nephrology, 2023-11, Vol.34 (11S), p.723-723

2023

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Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

Vision research (Oxford), 2012-12, Vol.75, p.2-4

2012

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Human molecular genetics, 2012-08, Vol.21 (16), p.3647-3654

2012

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Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

Human mutation, 2014-11, Vol.35 (11), p.1354-1362

2014

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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Human molecular genetics, 2017-09, Vol.26 (17), p.3451-3451

2017

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Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2013-08, Vol.93 (2), p.321-329

2013

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The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic

Human molecular genetics, 2012-02, Vol.21 (4), p.863-873

2012

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Molecular chaperones and photoreceptor function

Progress in retinal and eye research, 2008-07, Vol.27 (4), p.434-449

2008

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The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function

Advances in experimental medicine and biology, 2012, Vol.723, p.527

2012

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Investigation of the actions of adrenomedullin on microvascular endothelial cells

Schwarz, Nele

2007

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Should dolutegravir always be withheld in people with HIV on dolutegravir with incident diabetes mellitus? a case report

BMC infectious diseases, 2023-10, Vol.23 (1), p.744-744, Article 744

2023

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Blood glucose outcomes of anti-retroviral therapy naïve Ugandan people with HIV with pre-diabetes mellitus initiated on dolutegravir for 48 weeks

BMC infectious diseases, 2024-07, Vol.24 (1), p.746-10, Article 746

2024

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Association between integrase strand transfer inhibitor (INSTIs) use with insulin resistance and incident diabetes mellitus in persons living with HIV: A systematic review and meta-analysis protocol

PloS one, 2022-01, Vol.17 (3), p.e0264792

2022

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Dolutegravir use over 48 weeks is not associated with worsening insulin resistance and pancreatic beta cell function in a cohort of HIV-infected Ugandan adults

AIDS research and therapy, 2023-09, Vol.20 (1), p.65-65, Article 65

2023

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Association between integrase strand transfer inhibitor use with insulin resistance and incident diabetes mellitus in persons living with HIV: a systematic review and meta-analysis

BMJ open diabetes research & care, 2023-02, Vol.11 (1), p.e003136

2023

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Blood glucose trajectories and incidence of diabetes mellitus in Ugandan people living with HIV initiated on dolutegravir

AIDS research and therapy, 2023-03, Vol.20 (1), p.15-15, Article 15

2023

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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

Hsp90 inhibition protects against inherited retinal degeneration

The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium

Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

Adrenomedullin increases the expression of calcitonin-like receptor and receptor activity modifying protein 2 mRNA in human microvascular endothelial cells

New Translational Screening Assay with Phenotypic and Transcriptomic Readouts Using Induced Pluripotent Stem Cell (iPSC)-Derived Cells and Organoids from a Nephrotic Syndrome Patient: SA-PO008

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic

Molecular chaperones and photoreceptor function

The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function

Investigation of the actions of adrenomedullin on microvascular endothelial cells

Should dolutegravir always be withheld in people with HIV on dolutegravir with incident diabetes mellitus? a case report

Blood glucose outcomes of anti-retroviral therapy naïve Ugandan people with HIV with pre-diabetes mellitus initiated on dolutegravir for 48 weeks

Association between integrase strand transfer inhibitor (INSTIs) use with insulin resistance and incident diabetes mellitus in persons living with HIV: A systematic review and meta-analysis protocol

Dolutegravir use over 48 weeks is not associated with worsening insulin resistance and pancreatic beta cell function in a cohort of HIV-infected Ugandan adults

Association between integrase strand transfer inhibitor use with insulin resistance and incident diabetes mellitus in persons living with HIV: a systematic review and meta-analysis

Blood glucose trajectories and incidence of diabetes mellitus in Ugandan people living with HIV initiated on dolutegravir

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