A Coding Variant in the Gene Bardet - Biedl Syndrome 4 ( BBS 4 ) is Associated with 1 a Novel Form of Canine Progressive Retinal Atrophy
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چکیده
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) is Associated with 1 a Novel Form of Canine Progressive Retinal Atrophy 2 Tracy Chew, *, 1 Bianca Haase, † Roslyn Bathgate, † Cali E. Willet, ‡ Maria K. Kaukonen, 3 §, **, †† Lisa J. Mascord, * Hannes T. Lohi, §, **, †† Claire M. Wade *, 1 4 5 Author Affiliations 6 School of Life and Environmental Sciences, Faculty of Science, University of Sydney, 7 Sydney NSW Australia, Sydney School of Veterinary Science, Faculty of Science, 8 University of Sydney, Sydney NSW Australia, Sydney Informatics Hub, Core Research 9 Facilities, University of Sydney, Sydney NSW Australia, Department of Veterinary 10 Biosciences, University of Helsinki, Finland, Research Programs Unit, Molecular 11 Neurology, University of Helsinki, Finland, and Folkhälsan Institute of Genetics, 12 Finland 13 14 Reference numbers 15 Genotyping array data is available at NCBI’s Gene Expression Omnibus (accession 16 number GSE87642). Whole genome sequencing data is available at NCBI’s Sequence 17 Read Archive (BioProject accession number PRJNA344694). 18 19 20 G3: Genes|Genomes|Genetics Early Online, published on May 22, 2017 as doi:10.1534/g3.117.043109
منابع مشابه
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy
Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a ...
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Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in trafficking various ciliary cargo proteins. To date, 17 different genes have been reported for BBS am...
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Retinal dystrophy in Bardet-Biedl Syndrome (BBS) is caused by defective genes that are expressed within ciliated cells such as photoreceptors. The purpose of this study was to characterize and compare the retinal structure and lamination of two groups of patients, carrying mutations in BBS1 or BBS10. Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were ...
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تاریخ انتشار 2017