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Metabolic and proteomic indications of diabetes progression in human aqueous humor

PloS one, 2023-01, Vol.18 (1), p.e0280491-e0280491

2023

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BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

PLoS genetics, 2017-10, Vol.13 (10), p.e1007057-e1007057

2017

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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

The Journal of clinical investigation, 2011-09, Vol.121 (9), p.3542-3553

2011

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Mitophagy: An Emerging Target in Ocular Pathology

Investigative ophthalmology & visual science, 2021-03, Vol.62 (3), p.22

2021

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Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

The Journal of clinical investigation, 2008-04, Vol.118 (4), p.1458-1467

2008

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The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

PLoS genetics, 2016-02, Vol.12 (2), p.e1005890-e1005890

2016

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Solubilized ubiquinol for preserving corneal function

Biomaterials, 2021-08, Vol.275, p.120842-120842, Article 120842

2021

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BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia

Journal of cell science, 2019-02, Vol.132 (5)

2019

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Rat Model of Type 2 Diabetes Mellitus Recapitulates Human Disease in the Anterior Segment of the Eye

The American journal of pathology, 2024-06, Vol.194 (6), p.1090-1105

2024

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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)

Proceedings of the National Academy of Sciences - PNAS, 2006-04, Vol.103 (16), p.6287-6292

2006

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Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Proceedings of the National Academy of Sciences - PNAS, 2011-12, Vol.108 (51), p.20678-20683

2011

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BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

Journal of cell science, 2013-06, Vol.126 (Pt 11), p.2372-2380

2013

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

PLoS genetics, 2010-03, Vol.6 (3), p.e1000884

2010

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Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome

Molecular therapy, 2017-04, Vol.25 (4), p.904-916

2017

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A Knockin Mouse Model of the Bardet-Biedl Syndrome 1 M390R Mutation Has Cilia Defects, Ventriculomegaly, Retinopathy, and Obesity

Proceedings of the National Academy of Sciences - PNAS, 2007-12, Vol.104 (49), p.19422-19427

2007

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Bbs2-Null Mice Have Neurosensory Deficits, a Defect in Social Dominance, and Retinopathy Associated with Mislocalization of Rhodopsin

Proceedings of the National Academy of Sciences - PNAS, 2004-11, Vol.101 (47), p.16588-16593

2004

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Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Nature medicine, 2012-12, Vol.18 (12), p.1797-1804

2012

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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3303-3303

2015

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Ubiquinol Supplementation of Donor Tissue Enhances Corneal Endothelial Cell Mitochondrial Respiration

Cornea, 2020-10, Vol.39 (10), p.1285-1290

2020

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Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

American journal of human genetics, 2005-12, Vol.77 (6), p.1021-1033

2005

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Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

American journal of human genetics, 2004-09, Vol.75 (3), p.475-484

2004

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

Human molecular genetics, 2005-05, Vol.14 (9), p.1109-1118

2005

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Human mutation, 2010-04, Vol.31 (4), p.429-436

2010

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Inactivation of Bardet-Biedl syndrome genes causes kidney defects

American Journal of Physiology - Renal Physiology, 2011-02, Vol.300 (2), p.F574-F580

2011

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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

American journal of human genetics, 2010-05, Vol.86 (5), p.686-695

2010

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Metabolic and proteomic indications of diabetes progression in human aqueous humor

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

Mitophagy: An Emerging Target in Ocular Pathology

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

Solubilized ubiquinol for preserving corneal function

BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia

Rat Model of Type 2 Diabetes Mellitus Recapitulates Human Disease in the Anterior Segment of the Eye

Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

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

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome

A Knockin Mouse Model of the Bardet-Biedl Syndrome 1 M390R Mutation Has Cilia Defects, Ventriculomegaly, Retinopathy, and Obesity

Bbs2-Null Mice Have Neurosensory Deficits, a Defect in Social Dominance, and Retinopathy Associated with Mislocalization of Rhodopsin

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

Ubiquinol Supplementation of Donor Tissue Enhances Corneal Endothelial Cell Mitochondrial Respiration

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

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

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Inactivation of Bardet-Biedl syndrome genes causes kidney defects

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

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