Zobrazeno 1 - 10
of 23
pro vyhledávání: '"choroideraemia"'
Autor:
M. Dominik Fischer, Immanuel P. Seitz
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 236:236-243
ZusammenfassungSeit ihrer Erstbeschreibung im Jahr 1872 herrscht um den natürlichen Verlauf der Choroideremie eine rege und in Teilen bis heute andauernde akademische Debatte. Aufgrund der Seltenheit der Erkrankung verlief diese traditionell weitgeh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e77cc48a4a7be668f7954cbd92a9c3d
https://doi.org/10.1055/a-0841-3417
https://doi.org/10.1055/a-0841-3417
Publikováno v:
European journal of ophthalmology. 31(1_suppl)
Purpose: To report a case of choroidal neovascularisation and leakage in a myopic female predicted to be a choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF). Methods: Case report. Results: A female m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b02aaa9b431128a478d2242e000ffbd
https://pubmed.ncbi.nlm.nih.gov/33884923
https://pubmed.ncbi.nlm.nih.gov/33884923
Akademický článek
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Autor:
Shuhei Kameya, Hiroshi Tsuneoka, Tamaki Gekka, Takaaki Hayashi, Kunihiro Ishikawa, Sachiko Kikuchi
Publikováno v:
Clinicalexperimental optometry. 100(3)
Choroideraemia is a rare X‐linked chorioretinal disease characterised by progressive degeneration of the retina, retinal pigment epithelium (RPE) and choroid.2012 The causes of choroideraemia have ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d5011ef07c3251312cfd0ebec4e612
https://pubmed.ncbi.nlm.nih.gov/27628750
https://pubmed.ncbi.nlm.nih.gov/27628750
Autor:
Bettina E. Bauer, Antonella Ragnini, Rudolf J. Schweyen, Duc Minh Bui, Marta Miaczynska, Stefano Lorenzetti
Publikováno v:
Scopus-Elsevier
The Rab escort protein (REP) is an essential component of the heterotrimeric enzyme Rab geranylgeranyl transferase that modifies the carboxy-terminal cysteines of the Ras-like small G proteins belonging to the Rab/Ypt family. Deletions in the human C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4e07e3f62e57c2489dcb258c0a0fd1
https://doi.org/10.1091/mbc.7.10.1521
https://doi.org/10.1091/mbc.7.10.1521
Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia
Autor:
Richard G. Weleber, M. Flynn Roberts, Gerald A. Fishman, John R. Heckenlively, Daniel K. Roberts, Robert J. Anderson, Sandeep Grover
Publikováno v:
British Journal of Ophthalmology. 86:658-662
Background/aims: Few studies have reported on the change in visual acuity (VA) in patients with choroideraemia. In order to determine the degree and rate of VA impairment associated with this disease, the central VA was analysed in a large group of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49aedb0ad9fb625e47b22f35b52ad08
https://doi.org/10.1136/bjo.86.6.658
https://doi.org/10.1136/bjo.86.6.658
Autor:
Bart P. Leroy
Publikováno v:
Inherited Chorioretinal Dystrophies ISBN: 9783540694649
Choroideraemia is an X-linked progressive degeneration of the retina and the choroid [1–3]. The primary site of the disease is the retinal pigment epithelium (RPE), outer retina and choroid [2, 4]. The specific features of affected males and female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13386b10d511cd19f5856de1e9029071
https://doi.org/10.1007/978-3-540-69466-3_15
https://doi.org/10.1007/978-3-540-69466-3_15
Autor:
BP Leroy
Publikováno v:
Acta Ophthalmologica. 90
Purpose To describe the current status of treatment for inherited retinal disease, and illustrate the challenges that lie ahead. Methods An overview of current treatment trials for inherited retinal disease in humans and animals will be used to illus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2ed6ed3e017ec46dbceed3bfee71fdf
https://doi.org/10.1111/j.1755-3768.2012.4213.x
https://doi.org/10.1111/j.1755-3768.2012.4213.x
MRS6 is a newly-identified gene in the yeast Saccharomyces cerevisiae. Its product Mrs6p shows significant homology to the mammalian GDP dissociation inhibitor (GDI) of Rab/Ypt-type small G proteins and to the human choroideraemia protein (CHM), the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3987ee75d05580346beb98c5004d18
http://hdl.handle.net/2108/90972
http://hdl.handle.net/2108/90972
Autor:
John Armstrong
Publikováno v:
Current biology : CB. 3(1)
To function in vesicle transport, Rab/Ypt proteins require modification with geranylgeranyl groups. One subunit of the human transferase responsible is encoded by the choroideraemia gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::749b4a25554912ce7405ddae0f43034e
https://pubmed.ncbi.nlm.nih.gov/15335876
https://pubmed.ncbi.nlm.nih.gov/15335876