Serum Biomarkers and Trafficking Defects in Peripheral Tissues Reflect the Severity of Retinopathy in Three Brothers Affected by Choroideremia
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-0631-0_49.pdf
Reference11 articles.
1. Becq F (2010) Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis: progress to date. Drugs 70:241–259
2. Gordiyenko NV, Fariss RN, Zhi C et al (2009) Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 51:1143–1150
3. Jacobson SG, Cideciyan AV, Sumaroka A et al (2006) Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci 47:4113–4120
4. MacDonald IM, Sereda C, McTaggart K et al (2004) Choroideremia gene testing. Expert Rev Mol Diagn 4:478–484
5. Moosajee M, Gregory-Evans K, Ellis CD et al (2008) Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet 17:3987–4000
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1. Clinical applications of retinal gene therapies;Precision Clinical Medicine;2018-06-01
2. Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment;Stem Cell Research;2018-03
3. Pathogenic mechanisms and the prospect of gene therapy for choroideremia;Expert Opinion on Orphan Drugs;2015-05-10
4. Choroideremia: Towards a Therapy;American Journal of Ophthalmology;2013-09
5. Molecular Genetics of Choroideremia;eLS;2012-12-17
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