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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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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

International journal of molecular sciences, 2022-01, Vol.23 (3), p.1615

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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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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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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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 mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density

Molecular vision, 2017-03, Vol.23, p.140-148

2017

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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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Myosin 6 is required for iris development and normal function of the outer retina

Investigative ophthalmology & visual science, 2013-11, Vol.54 (12), p.7223-7233

2013

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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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An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration

Investigative ophthalmology & visual science, 2011-06, Vol.52 (7), p.4703-4709

2011

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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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The tubby-like proteins, a family with roles in neuronal development and function

Journal of cell science, 2002-01, Vol.115 (Pt 1), p.9-14

2002

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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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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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Characterization of plasma lipids in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Metabolism, clinical and experimental, 1994-05, Vol.43 (5), p.549-553

1994

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Linkage of Atherogenic Lipoprotein Phenotype to the Low Density Lipoprotein Receptor Locus on the Short Arm of Chromosome 19

Proceedings of the National Academy of Sciences - PNAS, 1992-01, Vol.89 (2), p.708-712

1992

Volltextzugriff (PDF)

Mouse genetic approaches to access pathways important in retinal function

Advances in experimental medicine and biology, 2003, Vol.533, p.29

2003

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Atherosclerosis in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Metabolism, clinical and experimental, 1994-05, Vol.43 (5), p.554-558

1994

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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Human molecular genetics, 2001-08, Vol.10 (16), p.1619-1626

2001

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Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

Archives of ophthalmology (1960), 2008-01, Vol.126 (1), p.51

2008

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Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens

Investigative ophthalmology & visual science, 2000-09, Vol.41 (10), p.3149-3157

2000

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mdfw:A Deafness Susceptibility Locus That Interacts with Deaf Waddler (dfw)

Genomics (San Diego, Calif.), 1997-09, Vol.44 (3), p.266-272

1997

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Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

American journal of medical genetics, 1997-12, Vol.73 (2), p.150-161

1997

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The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene

Clinical genetics, 1997-04, Vol.51 (4), p.236-240

1997

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

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

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

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

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

A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density

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

Myosin 6 is required for iris development and normal function of the outer retina

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

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration

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

The tubby-like proteins, a family with roles in neuronal development and function

New Alström syndrome phenotypes based on the evaluation of 182 cases

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

Characterization of plasma lipids in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Linkage of Atherogenic Lipoprotein Phenotype to the Low Density Lipoprotein Receptor Locus on the Short Arm of Chromosome 19

Mouse genetic approaches to access pathways important in retinal function

Atherosclerosis in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens

mdfw:A Deafness Susceptibility Locus That Interacts with Deaf Waddler (dfw)

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene

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