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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration

Proceedings of the National Academy of Sciences - PNAS, 2015-10, Vol.112 (42), p.12962-12967

2015

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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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Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

The Journal of biological chemistry, 2010-03, Vol.285 (10), p.7697-7711

2010

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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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Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation

Journal of neurophysiology, 2012-11, Vol.108 (9), p.2442-2451

2012

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Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model

The Journal of biological chemistry, 2011-01, Vol.286 (1), p.726-736

2011

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Degradation of IRS1 leads to impaired glucose uptake in adipose tissue of the type 2 diabetes mouse model TALLYHO/Jng

Journal of endocrinology, 2009-10, Vol.203 (1), p.65-74

2009

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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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Mouse Model Resources for Vision Research

Journal of ophthalmology, 2011-01, Vol.2011 (2011), p.1-12

2011

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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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Genetic Analysis of a New Mouse Model for Non-Insulin-Dependent Diabetes

Genomics (San Diego, Calif.), 2001-06, Vol.74 (3), p.273-286

2001

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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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Defective carbohydrate metabolism in mice homozygous for the tubby mutation

Physiological genomics, 2006-10, Vol.27 (2), p.131-140

2006

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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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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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Quantitative trait loci analysis for the differences in susceptibility to atherosclerosis and diabetes between inbred mouse strains C57BL/6J and C57BLKS/J

Journal of lipid research, 1999-07, Vol.40 (7), p.1328-1335

1999

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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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Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice

Proceedings of the National Academy of Sciences - PNAS, 1995-08, Vol.92 (17), p.7729-7733

1995

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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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Characterization of the Murine Lbx2 Promoter, Identification of the Human Homologue, and Evaluation as a Candidate for Alström Syndrome

Genomics (San Diego, Calif.), 2001-06, Vol.74 (2), p.219-227

2001

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Molecular Characterization of a Novel Tubby Gene Family Member,TULP3,in Mouse and Humans

Genomics (San Diego, Calif.), 1998-12, Vol.54 (2), p.215-220

1998

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Effects of Propionate on Lipid Biosynthesis in Isolated Rat Hepatocytes

The Journal of nutrition, 1990-07, Vol.120 (7), p.668-673

1990

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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration

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

Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

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

Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation

Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model

Degradation of IRS1 leads to impaired glucose uptake in adipose tissue of the type 2 diabetes mouse model TALLYHO/Jng

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

Mouse Model Resources for Vision Research

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

Genetic Analysis of a New Mouse Model for Non-Insulin-Dependent Diabetes

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

Defective carbohydrate metabolism in mice homozygous for the tubby mutation

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

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

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

Quantitative trait loci analysis for the differences in susceptibility to atherosclerosis and diabetes between inbred mouse strains C57BL/6J and C57BLKS/J

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

Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice

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

Characterization of the Murine Lbx2 Promoter, Identification of the Human Homologue, and Evaluation as a Candidate for Alström Syndrome

Molecular Characterization of a Novel Tubby Gene Family Member,TULP3,in Mouse and Humans

Effects of Propionate on Lipid Biosynthesis in Isolated Rat Hepatocytes

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