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    Dual Adeno-Associated Virus Vector mediated gene therapy for autosomal recessive Stargardt Disease
    Investigative Ophthalmology & Visual Science (2019)
    Frank M. DykaLaurie L. MoldayVince A. ChiodoRobert S. MoldayWilliam W. Hauswirth
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    Keywords:
    Adeno-associated virus
    Stargardt disease
    Topics:
    Retinal Development and Disorders
    Corneal Surgery and Treatments
    Virus-based gene therapy research
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    Investigative Ophthalmology & Visual Science (2010)
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    129. Gene Therapy with Self-Complementary Recombinant Adeno-Associated Virus in Models of Autosomal Dominant Retinitis Pigmentosa Caused by RHO Mutations
    Molecular Therapy (2014)
    Brian RossmillerHaoyu MaoAlfred S. Lewin
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    Hereditary Retinal Dystrophy
    Handbook of experimental pharmacology (2016)
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    Clinical Immunology (2018)
    Sonia QureshiMuhammad Dawood Amir SheikhFarah Naz Qamar
    Primary Immunodeficiency
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    Mutations in MYO7B gene，a new suspected pathogenic gene，result in Autosomal Recessive Retinal Pigmentosa in a Chinese family
    Investigative Ophthalmology & Visual Science (2019)
    Yanyan HeXinxin ZhangYoujin WangXiaochen WangYupu Liu
    Chinese family
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    Exclusion of Four Candidate Genes, <i>KHDRBS2, PTP4A1, KIAA1411</i> and <i>OGFRL1,</i> as Causative of Autosomal Recessive Retinitis Pigmentosa
    Ophthalmic Research (2005)
    Mai M. Abd El-AzizReshma PatelMohamed F. El-AshryIsabel BarragánIrene Marcos
    To identify the disease gene in 6 Spanish families with autosomal recessive retinitis pigmentosa linked to the RP25 locus, mutation screening of 4 candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, was undertaken based on their expression or functional relevance to the retina. Twenty-six single nucleotide polymorphisms were identified, of which 14 were novel. Even though no pathological mutations were detected, these genes however remain as good candidates for other retinal degenerations mapping to the same chromosomal region.
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    An Allele-Independent Gene Therapy Strategy Induces Rod Function in a Transgenic Swine Model of Autosomal Dominant Retinitis Pigmentosa
    Investigative Ophthalmology & Visual Science (2020)
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    Mutations in the JAK3-gene in children with autosomal recessive T-B+ SCIDin the JAK3-gene in children with autosomal recessive T-B+ SCID
    Molecular Immunology (1998)
    Richard Fabian Schumacher
    Janus kinase 3
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