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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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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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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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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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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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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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Mitophagy: An Emerging Target in Ocular Pathology

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

2021

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Nature genetics, 1998-06, Vol.19 (2), p.140-147

1998

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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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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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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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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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Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Nature genetics, 2002-08, Vol.31 (4), p.435-438

2002

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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

Human molecular genetics, 2000-04, Vol.9 (7), p.1021-1032

2000

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A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

American journal of human genetics, 2001-02, Vol.68 (2), p.364-372

2001

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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

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

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

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

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

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

Mitophagy: An Emerging Target in Ocular Pathology

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

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

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

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

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

Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

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