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Isolation and Mapping of Human Homologues of an Imprinted Mouse Gene U2af1-rs1.

Isolation and Mapping of Human Homologues of an Imprinted Mouse Gene U2af1-rs1.
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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Human Mutation, 2000
Over 100 distinct retinoschisis gene (RS1) mutations, of which approximately 10% are single exon deletions, have been described to date. In this paper we have characterized in detail two dissimilar RS1 gene deletions which are accountable for RS in one-third of Danish patients.
L, Huopaniemi, H, Tyynismaa, A, Rantala, T, Rosenberg, T, Alitalo   +4 more
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The murine chaperonin 10 gene family contains an intronless, putative gene for early pregnancy factor, Cpn10-rs1

Mammalian Genome, 2001
Early pregnancy factor (EPF) is a secreted protein with growth regulatory and immunomodulatory properties. Human platelet-derived EPF shares amino acid sequence identity with chaperonin 10 (Cpn10), a mitochondrial matrix protein which functions as a molecular chaperone.
Fletcher, Barbara H., Cassady, A. Ian, Summers, Kim M., Cavanagh, Alice C.   +3 more
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Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene

Documenta Ophthalmologica, 2011
To assess the clinical features of and identify genetic defects in six Chinese families with X-linked retinoschisis (XLRS). Patients were recruited from ophthalmic clinics in Peking Union Medical College Hospital. A cohort of six unrelated families was identified.
Fei, Xu, Hang, Xiang, Ruxin, Jiang, Fangtian, Dong, Ruifang, Sui   +4 more
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Four Japanese male patients with juvenile retinoschisis: Only three have mutations in the RS1 gene

American Journal of Ophthalmology, 2004
To describe the clinical phenotypes of four unrelated Japanese male patients with juvenile retinoschisis and to investigate occurrences of mutations in the RS1 gene.Observational case series and experimental study.Fundus examinations, fluorescein angiography, and single-flash electroretinography (ERG) were carried out. In one patient, optical coherence
Takaaki, Hayashi, Satoshi, Omoto, Tomokazu, Takeuchi, Kenichi, Kozaki, Yasuo, Ueoka, Kenji, Kitahara   +5 more
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Two cases of X‐linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations

Clinical & Experimental Ophthalmology, 2004
AbstractThe optical coherence tomography (OCT) findings, clinical features, and mutations in the RS1 gene of two unrelated patients with X‐linked retinoschisis (XLRS) are reported herein. Two Chinese patients with early onset XLRS were given a comprehensive ophthalmologic examination and OCT investigation.
Wai Man, Chan, Kwong Wai, Choy, Jianghua, Wang, Dennis S C, Lam, Wilson W K, Yip, Weiling, Fu, Chi Pui, Pang   +6 more
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The Oocyte-Specific Methylated Region of the U2afbp-rs/U2af1-rs1 Gene Is Dispensable for Its Imprinted Methylation

Biochemical and Biophysical Research Communications, 2000
Imprinted genes harbor discrete regions which are differentially methylated in gametes; usually the final differential methylation patterns in adults are established during embryogenesis through modifications of the initial methylation patterns in gametes.
S, Sunahara, K, Nakamura, K, Nakao, Y, Gondo, Y, Nagata, M, Katsuki   +5 more
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[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis.Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay.All male patients ...
Ping, Luo, Qiuyan, Liu, Xuesha, Xing, Qi, Liu, Yang, Luo   +4 more
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Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene

Documenta Ophthalmologica
In this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene (c.522 + 2 T > A).Ophthalmological evaluation, optical coherence tomography, full-field and multifocal electroretinograms and extensive genetic screening of genes related to visual loss were carried out in the ...
Lorrana Souza Azevedo, Márcio Augusto Moraes Alvarez, Gabriel Izan Santos Botelho, Alexandre Antônio Marques Rosa, Givago Silva Souza   +4 more
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Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial

Molecular Therapy, 2021
Alaknanda Mishra, Camasamudram Vijayasarathy, Paul A Sieving   +2 more
exaly