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Innovations in phenotyping of mouse models in the German Mouse Clinic
Helmut Fuchs et al.
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Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis
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Kamron Khan et al.
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Genetics of anterior segment dysgenesis disorders
Linda M. Reis et al.
CURRENT OPINION IN OPHTHALMOLOGY (2011)
Role of VPO1, a newly identified heme-containing peroxidase, in ox-LDL induced endothelial cell apoptosis
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Janine Davis et al.
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Peroxidasin Is Secreted and Incorporated into the Extracellular Matrix of Myofibroblasts and Fibrotic Kidney
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Shunsaku Homma et al.
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Martine Manuel et al.
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PAX6 dosage effects on comeal development, growth, and wound healing
Natalie Dora et al.
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Identification and characterization of VPO1, a new animal heme-containing peroxidase
Guangjie Cheng et al.
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Systematic gene expression profiling of mouse model series reveals coexpressed genes
Marion Horsch et al.
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COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon et al.
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Foxe view of lens development and disease
Olga Medina-Martinez et al.
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Douglas B. Gould et al.
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Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage
Asa Blixt et al.
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Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus:: An extension of the Col4α1 allelic series and the identification of the first two Col4a2 mutant Alleles
Jack Favor et al.
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Role of COL4A1 in small-vessel disease and hemorrhagic stroke
DB Gould et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters
J Graw et al.
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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
T Van Agtmael et al.
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Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice
O Medina-Martinez et al.
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Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye
U Hopfer et al.
FASEB JOURNAL (2005)
ARTS: a web-based tool for the set-up of high-throughput genome-wide mapping panels for the SNP genotyping of mouse mutants
M Klaften et al.
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Embryonic synthesis of the inner limiting membrane and vitreous body
W Halfter et al.
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Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
DB Gould et al.
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Xenopus tropicalis peroxidasin gene is expressed within the developing neural tube and pronephric kidney
AJ Tindall et al.
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Collagen IV in the developing lens capsule
PB Kelley et al.
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Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
R Edgar et al.
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Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)
Significance analysis of microarrays applied to the ionizing radiation response
VG Tusher et al.
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Genome-wide, large-scale production of mutant mice by ENU mutagenesis
MH de Angelis et al.
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Microphthalmia due to p53-mediated apoptosis of anterior lens epithelial cells in mice lacking the CREB-2 transcription factor
T Hettmann et al.
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