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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

The Journal of clinical investigation, 2011-06, Vol.121 (6), p.2169-2180

2011

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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Human molecular genetics, 2011-02, Vol.20 (3), p.482-496

2011

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RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

Human molecular genetics, 2009-11, Vol.18 (22), p.4329-4339

2009

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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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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Human molecular genetics, 2015-12, Vol.24 (24), p.6958-6974

2015

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An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency

Human molecular genetics, 2018-10, Vol.27 (19), p.3340-3352

2018

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Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa

Human molecular genetics, 2013-02, Vol.22 (3), p.558-567

2013

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New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

Human molecular genetics, 2009-01, Vol.18 (1), p.178-192

2009

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

Human molecular genetics, 2003-09, Vol.12 (17), p.2179-2189

2003

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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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A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene, Ddr2, in the Mouse

Molecular endocrinology (Baltimore, Md.), 2008-08, Vol.22 (8), p.1866-1880

2008

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Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

The Journal of physiology, 2008-09, Vol.586 (18), p.4409-4424

2008

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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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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Human molecular genetics, 2002-08, Vol.11 (16), p.1879-1886

2002

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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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Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor)

Human molecular genetics, 2003-05, Vol.12 (9), p.1029-1036

2003

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Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice

Human molecular genetics, 2001-06, Vol.10 (12), p.1325-1334

2001

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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Human molecular genetics, 2000-01, Vol.9 (2), p.155-163

2000

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Genetic modifiers of vision and hearing

Human molecular genetics, 2002-05, Vol.11 (10), p.1195-1206

2002

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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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Relationship between lipoprotein- and oxidation-related variables and atheroma lipid composition in subjects undergoing coronary artery bypass graft surgery

Arteriosclerosis, thrombosis, and vascular biology, 1999-06, Vol.19 (6), p.1512-1517

1999

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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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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

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

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

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

A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene, Ddr2, in the Mouse

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

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

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

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

Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor)

Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Genetic modifiers of vision and hearing

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

Relationship between lipoprotein- and oxidation-related variables and atheroma lipid composition in subjects undergoing coronary artery bypass graft surgery

New Alström syndrome phenotypes based on the evaluation of 182 cases

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

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