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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Annual review of neuroscience, 2003-01, Vol.26, p.657-700

2003

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Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration

Advances in experimental medicine and biology, 2023, Vol.1415, p.27-36

2023

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Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum

Molecular and cellular neuroscience, 2007-05, Vol.35 (1), p.161-170

2007

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Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

Visual neuroscience, 2008-07, Vol.25 (4), p.563-574

2008

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The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina

Advances in experimental medicine and biology, 2018, Vol.1074, p.545-551

2018

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Microtubule-associated protein 1A is a modifier of tubby hearing ( moth1 )

Nature genetics, 2002-04, Vol.30 (4), p.401-405

2002

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Bright-Field Imaging and Optical Coherence Tomography of the Mouse Posterior Eye

Methods in molecular biology (Clifton, N.J.), 2016-01, Vol.1438, p.395

2016

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Lysosomal Trafficking Regulator (LYST)

Advances in experimental medicine and biology, 2016-01, Vol.854, p.745-750

2016

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Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

Experimental eye research, 2009-09, Vol.89 (3), p.365-372

2009

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Human mutation, 2007-11, Vol.28 (11), p.1114-1123

2007

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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Nature genetics, 2002-05, Vol.31 (1), p.74-78

2002

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A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects

Advances in experimental medicine and biology, 2016-01, Vol.854, p.177-183

2016

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Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis

Experimental eye research, 2014-01, Vol.118, p.30-35

2014

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Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity

Nature genetics, 1995-06, Vol.10 (2), p.135-142

1995

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Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases

Molecular and cellular neuroscience, 2005-10, Vol.30 (2), p.160-172

2005

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A candidate gene for the mouse mutation tubby

Nature (London), 1996-04, Vol.380 (6574), p.534-538

1996

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Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Nature genetics, 1998-02, Vol.18 (2), p.174-176

1998

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The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation

Visual neuroscience, 2006-11, Vol.23 (6), p.917-929

2006

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Translational vision research models program

Advances in experimental medicine and biology, 2012, Vol.723, p.391

2012

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A novel ENU-induced mutation, peewee, causes dwarfism in the mouse

Mammalian genome, 2009-07, Vol.20 (7), p.455-455

2009

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New Alström syndrome phenotypes based on the evaluation of 182 cases

Archives of internal medicine (1960), 2005-03, Vol.165 (6), p.675

2005

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A novel ENU-induced mutation, peewee, causes dwarfism in the mouse

Mammalian genome, 2009-07, Vol.20 (7), p.404-413

2009

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Genetic Modification of Retinal Degeneration in Tubby Mice

Experimental eye research, 2002-04, Vol.74 (4), p.455-461

2002

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Mapping of genetic modifiers of Nr2e3 rd⁷/rd⁷ that suppress retinal degeneration and restore blue cone cells to normal quantity

Mammalian genome, 2008-03, Vol.19 (3), p.145-154

2008

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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration

Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina

Microtubule-associated protein 1A is a modifier of tubby hearing ( moth1 )

Bright-Field Imaging and Optical Coherence Tomography of the Mouse Posterior Eye

Lysosomal Trafficking Regulator (LYST)

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects

Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis

Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity

Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases

A candidate gene for the mouse mutation tubby

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation

Translational vision research models program

A novel ENU-induced mutation, peewee, causes dwarfism in the mouse

New Alström syndrome phenotypes based on the evaluation of 182 cases

A novel ENU-induced mutation, peewee, causes dwarfism in the mouse

Genetic Modification of Retinal Degeneration in Tubby Mice

Mapping of genetic modifiers of Nr2e3 rd⁷/rd⁷ that suppress retinal degeneration and restore blue cone cells to normal quantity

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