Three polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten-wk-old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.
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Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.
Proc Natl Acad Sci U S A
December 2024
Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, University College London, and National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom.
Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.
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Neuroradiol J
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Department of Radiology, Massachusetts General Hospital, USA.
Article Synopsis
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Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Ophthalmol Sci
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Department of Ophthalmology, Kindai University Faculty of Medicine, Osakasayama, Japan.
Article Synopsis
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The tale of capturing Norrin.
Elife
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Department of Cell Biology and Human Anatomy, University of California, Davis, Davis, United States.
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Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
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