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Research Article

Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

  • Ramakrishna P. Alur,

    Affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Camasamudram Vijayasarathy,

    Affiliation: Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Jacob D. Brown,

    Affiliations: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America, Department of Biochemistry, Molecular and Cellular Biology, Georgetown University School of Medicine, Washington, D.C., United States of America

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  • Mohit Mehtani,

    Affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Ighovie F. Onojafe,

    Affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Yuri V. Sergeev,

    Affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Elangovan Boobalan,

    Affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • MaryPat Jones,

    Affiliation: National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America

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  • Ke Tang,

    Affiliation: Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America

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  • Haiquan Liu,

    Affiliation: School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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  • Chun-hong Xia,

    Affiliation: School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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  • Xiaohua Gong,

    Affiliation: School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

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  • Brian P. Brooks mail

    brooksb@mail.nih.gov

    Affiliations: Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America, Department of Biochemistry, Molecular and Cellular Biology, Georgetown University School of Medicine, Washington, D.C., United States of America

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  • Published: March 05, 2010
  • DOI: 10.1371/journal.pgen.1000870

About the Authors

Ramakrishna P. Alur, Jacob D. Brown, Mohit Mehtani, Ighovie F. Onojafe, Yuri V. Sergeev, Elangovan Boobalan
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
Camasamudram Vijayasarathy, Brian P. Brooks
Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
Jacob D. Brown, Brian P. Brooks
Department of Biochemistry, Molecular and Cellular Biology, Georgetown University School of Medicine, Washington, D.C., United States of America
MaryPat Jones
National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
Ke Tang
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America
Haiquan Liu, Chun-hong Xia, Xiaohua Gong
School of Optometry and Vision Science Program, University of California Berkeley, Berkeley, California, United States of America

Corresponding Author

Email: brooksb@mail.nih.gov

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: RPA CV JDB EB BPB. Performed the experiments: RPA CV JDB MM IFO YVS EB MJ KT HL ChX XG BPB. Analyzed the data: RPA YVS EB MJ BPB. Contributed reagents/materials/analysis tools: CV MJ XG BPB. Wrote the paper: JDB MM YVS XG BPB.