Journal Article10.1006/GENO.1998.5382
Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.
Regina Warneke-Wittstock,Andreas Marquardt,Andrea Gehrig,Christian G. Sauer,Manfred Gessler,Bernhard H. F. Weber +5 more
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TL;DR: The construction of a first transcript map of this chromosomal interval is reported by combining exon trapping, EST mapping, and computational gene identification methods, leading to the assembly of at least 12 novel transcripts positioned within the DXS418-DXS999 region.
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About: This article is published in Genomics. The article was published on 01 Jul 1998. The article focuses on the topics: Exon trapping & Gene mapping.
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Citations
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
TL;DR: Recombinant adeno-associated virus mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long-term retinoschisin expression and rescue of retinal structure and function providing a 'proof of concept' that gene therapy may be an effective treatment for XLRS.
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Progress in Retinal and Eye Research
Robert S. Molday,Ulrich Kellner +1 more
- 01 Jan 2012
TL;DR: Recombinant adeno-associated virus mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long-term retinoschisin expression and rescue of retinal structure and function providing a ‘proof of concept’ that gene therapy may be an effective treatment for XLRS.
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Optical Coherence Tomography Angiography Findings in X-Linked Retinoschisis.
Rodolfo Mastropasqua,Lisa Toto,Luca Di Antonio,Maurizio Battaglia Parodi,Luca Sorino,Ivana Antonucci,Liborio Stuppia,Marta Di Nicola,Cesare Mariotti +8 more
TL;DR: OCTA shows reduced macular deep vessel density in patients with XLRS probably related to vessel displacement and disruption due to schitic cysts.
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X-Linked Juvenile Retinoschisis
Bernhard H. F. Weber,Ulrich Kellner +1 more
- 01 Jan 2007
TL;DR: Although present in nearly all affected males less than 30 yr of age, the alterations of the fovea may be very discrete and especially in young children can sometimes be overlooked even by experienced clinicians.
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Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?
Shubha R. Phadke,Sheetal Sharda,Jill E. Urquhart,Emma M. Jenkinson,Shobhit Chawala,Dorothy Trump +5 more
TL;DR: In this article, two brothers with short stature, microcephaly, severe mental retardation, and retinoschisis were found to have a genetic linkage to the RS1 gene at Xp22.1.
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