Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
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چکیده
منابع مشابه
Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort
Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort Kirk Stephenson1, Matthew Carrigan2, Paul Kenna3, 2, G Jane Farrar2, David Keegan1. 1Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland; 2Trinity College Dublin, Dublin, Ireland; 3Ophthalmology, Royal Victoria Eye & Ear Hospital, ...
متن کاملNovel RS1 mutations associated with X-linked juvenile retinoschisis
To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten...
متن کاملMutational Screening of RS1 gene in X-linked Retinoschisis in an South Indian Family
Purpose: To screen XLRS1 gene for genetic mutations and describe the ocular phenotypes in an X-Linked retinoschisis family. Methods: Ophthalmic examination, including best-corrected visual acuity, fundus photography, Ocular Coherence Tomography/Scanning Laser Ophthalmoscopy (OCT/SLO) and full-field Electroretinography (ERG) was performed in the family. Pedigree was obtained and peripheral blood...
متن کاملCharacterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
PURPOSE X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice site variations, small indels, and larger genomic deletions. Clinically, genomic deletions are ra...
متن کاملExpression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells.
PURPOSE To examine the biochemical properties, cell expression, and localization of RS1, the product of the gene responsible for X-linked juvenile retinoschisis. METHODS Rs1h mRNA expression was measured from the eyes of wild-type and rd/rd mice by Northern blot analysis and reverse transcription-polymerase chain reaction (RT-PCR). Specific antibodies raised against the N terminus of RS1 were...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2018
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0198086