Bibliografías temáticas / X-linked Retinoschisis

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Literatura académica sobre el tema "X-linked Retinoschisis"

Autor: Grafiati
Publicado: 10 de marzo de 2023

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Artículos de revistas sobre el tema "X-linked Retinoschisis"

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Dubey, Devashish y ShoryaVardhan Azad. "X-linked retinoschisis". Indian Journal of Ophthalmology 68, n.º 1 (2020): 215. http://dx.doi.org/10.4103/ijo.ijo_1521_19.

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Hahn, Leo C., Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe et al. "X-Linked Retinoschisis". Ophthalmology 129, n.º 2 (febrero de 2022): 191–202. http://dx.doi.org/10.1016/j.ophtha.2021.09.021.

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KIM, DAVID Y., KIMBERLY A. NEELY, JOSEPH W. SASSANI, TAMARA R. VRABEC, AVINASH TANTRI, ARCILEE FROST y LARRY A. DONOSO. "X-LINKED RETINOSCHISIS". Retina 26, n.º 8 (octubre de 2006): 940–46. http://dx.doi.org/10.1097/01.iae.0000224321.93502.a3.

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Byeon, Suk Ho, Oh W. Kwon y Sung Chul Lee. "X-Linked Retinoschisis". Ophthalmology 115, n.º 5 (mayo de 2008): 920–21. http://dx.doi.org/10.1016/j.ophtha.2007.12.009.

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George, N. D., J. R. Yates y A. T. Moore. "X linked retinoschisis." British Journal of Ophthalmology 79, n.º 7 (1 de julio de 1995): 697–702. http://dx.doi.org/10.1136/bjo.79.7.697.

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GIL ARRIBAS, L., I. PINILLA, E. GARCIA MARTIN y M. IDOIPE CORTA. "X-linked retinoschisis". Acta Ophthalmologica 86 (4 de septiembre de 2008): 0. http://dx.doi.org/10.1111/j.1755-3768.2008.479.x.

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M, Gopal Kishan, Sheetal Baldava y Syed Shah Asadullah H. "X LINKED JUVENILE RETINOSCHISIS". Journal of Evidence Based Medicine and Healthcare 2, n.º 16 (20 de abril de 2015): 2460–64. http://dx.doi.org/10.18410/jebmh/2015/356.

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Berenberg, Thomas L., Sarah H. Van Tassel, Samir N. Patel y R. V. Paul Chan. "Juvenile X-Linked Retinoschisis". Retina 36, n.º 12 (diciembre de 2016): e117-e119. http://dx.doi.org/10.1097/iae.0000000000001046.

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Kellner, Ulrich, Stefanie Br�mmer, Michael H. Foerster y Achim Wessing. "X-linked congenital retinoschisis". Graefe's Archive for Clinical and Experimental Ophthalmology 228, n.º 5 (1990): 432–37. http://dx.doi.org/10.1007/bf00927256.

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Falcone, Philip M. y Robert J. Brockhurst. "X-Chromosome-Linked Juvenile Retinoschisis". International Ophthalmology Clinics 33, n.º 2 (1993): 193–202. http://dx.doi.org/10.1097/00004397-199303320-00018.

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Tesis sobre el tema "X-linked Retinoschisis"

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Walpole, Susannah Marie. "Molecular genetic analysis of Xp22 and the X-linked retinoschisis gene". Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624306.

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Plößl, Karolina [Verfasser] y Bernhard H. F. [Akademischer Betreuer] Weber. "Studies on the Interaction between Retinoschisin and the Retinal Na/K-ATPase - Towards Elucidating the Molecular Pathomechanism of X-linked Juvenile Retinoschisis / Karolina Plößl ; Betreuer: Bernhard H. F. Weber". Regensburg : Universitätsbibliothek Regensburg, 2018. http://d-nb.info/1178115194/34.

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Ramsay, Ewan. "Structural and mutational characterisation of human retinoschisin". Thesis, University of Manchester, 2017. https://www.research.manchester.ac.uk/portal/en/theses/structural-and-mutational-characterisation-of-human-retinoschisin(affc298b-83fe-4494-9456-f827177d578d).html.

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X-Linked Retinoschisis (XLRS) is a currently incurable, progressive retinal degeneration that affects approximately 1:20,000 males. Sufferers have a loss of retinal structure and visual acuity, leading to blindness. The condition is caused by mutation of the RS1 gene encoding the retinal-specific protein retinoschisin. Retinoschisin is critical in maintaining the normal, ordered retinal architecture, with deletion in mice models leading to loss of both structure and visual processing, analogous to XLRS sufferers. However, re-introduction of retinoschisin using adeno-associated viral vectors leads to complete rescue in these models. Despite the importance of retinoschisin in maintaining retinal architecture, the mechanism by which it maintains this structure remains unknown. As a result, this study aimed to structurally characterise retinoschisin and XLRS-associated point mutants R141H and H207Q to gain insight into the mechanism of retinoschisin action. To this end, retinoschisin was expressed and purified from HEK 293-EBNA cells and the structure of both monomeric and octameric retinoschisin was investigated using Small-Angle X-Ray Scattering (SAXS) and Cryo-electron microscopy (Cryo-EM). Monomeric retinoschisin was found to adopt an elongated structure that allowed for the tight association of the subunits into a planer propeller structure. However, in solution conditions the octamer also stably self-assembled into a dimer of octamers, for which the structure was solved using cryo-EM. This allowed for construction of a quasi-atomic model, enabling mapping of XLRS-associated point mutations on the complex. Two major classes of mutation were identified, in the intra-octamer and inter-octamer interfaces, suggesting a mechanism of pathology for these mutants. Observation of clustered conservative mutations at the inter-octamer interface suggested the dimer of octamers may be physiologically relevant. Furthermore, comparison of the R141H mutant to the wild-type revealed an additional mutated site in the propeller tips. Here, R141H was suggested to induce a small conformational change and alter an interaction site. Another mutant, H207Q, however, induced a destabilization of the assembled retinoschisin molecule. In conclusion, we purified and structurally characterised human retinoschisin, identifying a new hexadecameric oligomer. The structure of this allowed for identification of distinct classes of mutations on the assembled molecule and a hypothesis of the mechanism of retinoschisin action in the retina.
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Finocchio, Lucia. "X-linked retinoschisis: deep phenotyping and genetic characterization". Doctoral thesis, 2021. http://hdl.handle.net/2158/1248895.

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Wu, Winco Wing-Ho. "RS1 structure-function relationships : roles in retinal adhesion and X-linked retinoschisis". Thesis, 2005. http://hdl.handle.net/2429/17185.

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X-linked retinoschisis is a form of macular degeneration that can result in visual loss in young males or in females with both copies of the gene defective. The RS1 gene associated with X-linked retinoschisis was positionally cloned in 1997. The gene was found to encode RS1, a 224-amino acid protein containing a discoidin domain that spans most of the protein. Discoidin domains are found in a wide variety of proteins that are involved mainly in cell adhesion. This thesis investigation examined the structure-function relationships in RS1 and their roles in maintaining retinal cell adhesion and in causing X-linked retinoschisis. Results showed that RS1 exists as a single disulfide-linked homo-octamer formed by intermolecular disulfide bonds between C59 and C223. C40-C40 intermolecular disulfide bonds further result in disulfide-linked dimer formation within this octameric complex. Within the discoidin domain, C63-C219 and C110-C142 form intramolecular disulfide bonds to allow for proper protein folding and stability of the discoidin domain, and C83 exists as a free cysteine. To allow for RS1 secretion into the extracellular matrix, each RS1 subunit is cleaved after S23 by signal peptidase. The main molecular mechanisms that cause X-linked retinoschisis can be grouped into four categories: mutations in the leader sequence prevent proper RS1 targeting to the endoplasmic reticulum; most mutations in the discoidin domain prevent proper protein folding and secretion; mutations in C59 or C223 prevent octameric assembly; and R141H within the discoidin domain causes abnormal oligomer formation. A suspected polymorphism D158N was shown to behave similarly to wildtype RS1. To identify the component that RS1 interacts with, known ligands of discoidin family proteins were tested for their ability to bind RS1. Unlike Factor V, RS1 did not bind phospholipids; however, similar to discoidin I, RS1 bound to D-galactose. This interaction depended on the octameric form of RS1, as dimers or monomers interacted weakly with galactose. Isopropyl β-D-1-thiogalactopyranoside eluted RS1 from a galactose-agarose column. This property was used to purify RS1 from retinal membranes. In summary, RS1 is a lectin whose function critically depends on the proper folding of its discoidin domain and disulfide-linked octamerization.
Medicine, Faculty of
Biochemistry and Molecular Biology, Department of
Graduate
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Huang, Kang-Chieh y 黃抗節. "Establishment of Patient-Specific Induced Pluripotent Stem Cells for Disease Modeling of X-linked Juvenile Retinoschisis". Thesis, 2015. http://ndltd.ncl.edu.tw/handle/21376079978909806346.

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碩士
國立陽明大學
解剖學及細胞生物學研究所
103
X-linked juvenile retinoschisis (XLRS) is one of the early onset inherited retinal degenerative diseases that affects males early in life. Patients with XLRS cause moderate visual loss and vitreous hemorrhage, and retinal detachment even occur in some patients. RS1 (or XLRS1) is the only gene that causes XLRS disease, which organized in six exons into a secreted protein known as retinoschisin. By using XLRS disease mouse model, previous studies demonstrated that the secreted retinoschisin protein expressed from photoreceptor and bipolar cells, and the function of retinoschisin is to maintain the retina structure and cellular organization. However, the real function and mechanisms of retinoschisin in human retina is unknown. To investigate the role of retinoschisin in human retina, we first sequenced the RS1 gene from six XLRS patients, and found five different mutation sites in RS1. Of the five mutation sites, four are in the discoidin domain of RS1 gene. Meanwhile, we used nonviral method to generate integration-free patient-specific iPSCs (XLRS-iPSC) with C625T mutation in RS1 gene and one iPSC from healthy donor (WT-iPSC) was used as control. XLRS-iPSCs and WT-iPSCs were differentiated toward neural retinal progenitor cells (NRPCs). Immunofluorescence and RT-PCR results showed these cells were expressed the NRPC-associated markers. We isolated the neural rosette from cells in NRPC fate, and induced 3D optic vesicles formation by suspension cultured. These cells were then formed laminated neural retina tissue, and RS1 was expressed in photoreceptors at day 50, which can be used for XLRS disease study. Moreover, we also stimulated XLRS-iPSC and WT-iPSC differentiated into retinal pigment epithelium (RPE), and there were no difference the expression pattern of RPE-related specific genes between XLRS-iPSC-RPE and WT-iPSC-RPE, suggesting the RS1 did not affect the RPE development. To understand the impact of the discoidin domain mutation in RS1 gene, we examined the protein expression, secretion and intracellular localization of wild type and C625T RS1 in 293A cell line. Our results showed that diseased-linked C625T mutation did not affect protein expression, but which was not successfully secreted and accumulated in ER. In present study, establishment of patient-specific XLRS-iPSC is a powerful tool for unveiling molecular events in XLRS disease. This integration-free iPSCs also can be used for drug screening or retinal transplantation in clinical, which give a great potential for finding treatment options in XLRS disease.
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Libros sobre el tema "X-linked Retinoschisis"

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Vosse, Esther van de. Positional cloning in Xp22: Towards the isolation of the gene involved in X-linked retinoschisis. [Leiden: University of Leiden, 1998.

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Capítulos de libros sobre el tema "X-linked Retinoschisis"

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Kang, Eugene Yu-Chuan y Nan-Kai Wang. "X-Linked Retinoschisis". En Hereditary Chorioretinal Disorders, 51–66. Singapore: Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-0414-3_3.

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Audo, Isabelle, José-Alain Sahel, Saddek Mohand-Saïd, Graham Holder y Anthony Moore. "X-Linked Retinoschisis". En Macular Dystrophies, 71–81. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-26621-3_9.

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Audo, Isabelle, Saddek Mohand-Saïd, José-Alain Sahel, Graham E. Holder y Anthony T. Moore. "X-Linked Retinoschisis". En Inherited Chorioretinal Dystrophies, 383–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-540-69466-3_42.

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Lee, Christopher Seungkyu. "X-Linked Retinoschisis". En Inherited Retinal Disease, 175–81. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-7337-5_11.

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Tsang, Stephen H. y Tarun Sharma. "X-linked Juvenile Retinoschisis". En Advances in Experimental Medicine and Biology, 43–48. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95046-4_10.

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Mancera, Norberto y Swetangi Bhaleeya. "Juvenile X-Linked Retinoschisis". En Manual of Retinal Diseases, 75–78. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-20460-4_17.

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Rao, Prethy, Vaidehi S. Dedania y Kimberly A. Drenser. "Congenital X-Linked Retinoschisis". En Pediatric Retinal Diseases, 87–96. Singapore: Springer Nature Singapore, 2022. http://dx.doi.org/10.1007/978-981-19-1364-8_10.

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Drenser, Kimberly. "Congenital X-Linked Retinoschisis". En A Quick Guide to Pediatric Retina, 179–81. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-15-6552-6_23.

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Cukras, Catherine A., Laryssa A. Huryn y Paul A. Sieving. "Juvenile X-Linked Retinoschisis and Hereditary Vitreoretinopathies". En Albert and Jakobiec's Principles and Practice of Ophthalmology, 1–12. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-90495-5_5-1.

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Cukras, Catherine A., Laryssa A. Huryn y Paul A. Sieving. "Juvenile X-Linked Retinoschisis and Hereditary Vitreoretinopathies". En Albert and Jakobiec's Principles and Practice of Ophthalmology, 4013–24. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-42634-7_5.

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Actas de conferencias sobre el tema "X-linked Retinoschisis"

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ALEXANDER, KENNETH R., GERALD A. FISHMAN, CLAIRE S. BARNES y SANDEEP GROVER. "ON-RESPONSE DEFICITS IN X-LINKED JUVENILE RETINOSCHISIS ASSESSED BY SAWTOOTH FLICKER ELECTRORETINOGRAM". En Vision Science and its Applications. Washington, D.C.: OSA, 2000. http://dx.doi.org/10.1364/vsia.2000.fd3.

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Informes sobre el tema "X-linked Retinoschisis"

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Wang, Ruixin, Songshan Li, Yafen Liu, Xiayin Zhang, Jinhui Wang, Limei Sun, Ting Zhang, Zhaotian Zhang, Haotian Lin y Xiaoyan Ding. The Role of Carbonic Anhydrase Inhibitors in the Treatment of X-linked Retinoschisis: A Systematic Review and Meta­analysis Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, diciembre de 2020. http://dx.doi.org/10.37766/inplasy2020.12.0098.

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