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12 Result(s)

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  1. No Access

    Article

    Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-map** analysis of a previously identified disease-as...

    Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt… in Nature Genetics (2017)

  2. No Access

    Article

    Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

    Chiea Chuen Khor, Tin Aung and colleagues report the results of a large genome-wide association study of primary angle closure glaucoma. They identify five new susceptibility loci and provide insights into dis...

    Chiea Chuen Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George… in Nature Genetics (2016)

  3. No Access

    Article

    A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Iris Heid, Gonçalo Abecasis, Sudha Iyengar and colleagues report the results of a large genome-wide association meta-analysis of macular degeneration based on over 43,000 subjects. They identify 16 new risk lo...

    Lars G Fritsche, Wilmar Igl, Jessica N Cooke Bailey, Felix Grassmann… in Nature Genetics (2016)

  4. No Access

    Article

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

    Anneke den Hollander, Patsy Nishina and colleagues report heterozygous missense mutations in CTNNA1 in three families with butterfly-shaped pigment dystrophy. Ctnna1-mutant mice display a similar phenotype and sh...

    Nicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller… in Nature Genetics (2016)

  5. No Access

    Article

    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Susanne Kohl and colleagues report mutations in ATF6, a regulator of the unfolded protein response pathway, that cause a familial form of achromatopsia. Their results indicate a role for ATF6 in foveal developmen...

    Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh… in Nature Genetics (2015)

  6. No Access

    Article

    A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

    Patrick Sulem, Kari Stefansson and colleagues report the identification of a rare nonsynonymous variant in the C3 gene, encoding complement factor 3, that is associated with age-related macular degeneration.

    Hannes Helgason, Patrick Sulem, Maheswara R Duvvari, Hongrong Luo… in Nature Genetics (2013)

  7. No Access

    Article

    A functional variant in the CFI gene confers a high risk of age-related macular degeneration

    Johannes van de Ven and colleagues report a rare missense mutation in CFI encoding a p.Gly119Arg substitution that confers a high risk of AMD. Sera from AMD cases carrying the p.Gly119Arg variant mediate the degr...

    Johannes P H van de Ven, Sara C Nilsson, Perciliz L Tan… in Nature Genetics (2013)

  8. Article

    Open Access

    Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

    The size of the vertebrate eye and the retina is likely to be controlled at several stages of embryogenesis by mechanisms that affect cell cycle length as well as cell survival. A mutation in the zebrafish out of...

    Anneke I den Hollander, Janisha Biyanwila, Peter Kovach, Tanya Bardakjian… in BMC Genetics (2010)

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  9. No Access

    Article

    AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AH...

    Carrie M Louie, Gianluca Caridi, Vanda S Lopes, Francesco Brancati… in Nature Genetics (2010)

  10. No Access

    Article

    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

    Nicholas Katsanis and colleagues report that a common allele of RPGRIP1L is associated with photoreceptor loss in ciliopathies. An A229T variant in RPGRIP1L compromises binding to RPGR and modifies the retinal de...

    Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa… in Nature Genetics (2009)

  11. No Access

    Article

    Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

    Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity map**, that the LCA5 gene on chromosome 6q14, which encodes the...

    Anneke I den Hollander, Robert K Koenekoop, Moin D Mohamed… in Nature Genetics (2007)

  12. No Access

    Article

    Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

    Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degener...

    Anneke I. den Hollander, Jacoline B. ten Brink, Yvette J.M. de Kok… in Nature Genetics (1999)