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A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis

Cell death & disease, 2021-10, Vol.12 (11), p.1017-1017, Article 1017

2021

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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2220

2022

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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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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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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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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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A new mouse model of metabolic syndrome and associated complications

Journal of endocrinology, 2009-07, Vol.202 (1), p.17-28

2009

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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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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 Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

The American journal of pathology, 2014-10, Vol.184 (10), p.2721-2729

2014

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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 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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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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Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair

Investigative ophthalmology & visual science, 2014-01, Vol.55 (1), p.387-395

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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Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2

Investigative ophthalmology & visual science, 2010-06, Vol.51 (6), p.3264-3272

2010

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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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Type 2 diabetes mouse model TallyHo carries an obesity gene on chromosome 6 that exaggerates dietary obesity

Physiological genomics, 2005-07, Vol.22 (2), p.171-181

2005

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Transcriptome analysis reveals an unexpected role of a collagen tyrosine kinase receptor gene, Ddr2, as a regulator of ovarian function

Physiological genomics, 2009-10, Vol.39 (2), p.120-129

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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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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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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Severe Ocular Abnormalities in C57BL/6 but Not in 129/Sv p53-Deficient Mice

Investigative ophthalmology & visual science, 1999-07, Vol.40 (8), p.1874-1878

1999

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A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

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

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

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

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

A new mouse model of metabolic syndrome and associated complications

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

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

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

A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

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

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

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

Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair

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

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2

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

Type 2 diabetes mouse model TallyHo carries an obesity gene on chromosome 6 that exaggerates dietary obesity

Transcriptome analysis reveals an unexpected role of a collagen tyrosine kinase receptor gene, Ddr2, as a regulator of ovarian function

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

New Alström syndrome phenotypes based on the evaluation of 182 cases

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

Severe Ocular Abnormalities in C57BL/6 but Not in 129/Sv p53-Deficient Mice

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