Choroideremia

Known as: Choroideremias, Progressive Tapetochoroidal Dystrophies, CHM 
An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness… (More)
National Institutes of Health

Papers overview

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2016
2016
To the Editor: Two recent clinical reports of retinal gene therapy with adeno-associated virus (AAV) vectors in patients with… (More)
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Highly Cited
2014
Highly Cited
2014
BACKGROUND Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes… (More)
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2007
2007
Choroideremia is an X-linked hereditary retinal degeneration resulting from mutations in the Rab escort protein-1 (REP1). The… (More)
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Highly Cited
2005
Highly Cited
2005
Tenomodulin (Tnmd) is a member of a new family of type II transmembrane glycoproteins. It is predominantly expressed in tendons… (More)
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Highly Cited
2004
Highly Cited
2004
Members of the RabGDI/REP family serve as multifunctional regulators of the Rab family of GTP binding proteins. Mutations in… (More)
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2002
2002
Choroideremia is an incurable X-linked retinal degeneration caused by mutations in the gene encoding Rab escort protein-1. A… (More)
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Review
2002
Review
2002
Membrane and protein traffic in the secretory and endocytic pathways is mediated by vesicular transport. Recent studies of… (More)
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2001
2001
PURPOSE To clarify the pathogenesis of choroideremia. STUDY DESIGN Human tissue study. TISSUES: Eyes of an 88-year-old… (More)
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Highly Cited
2001
Highly Cited
2001
Rab GTPases are regulators of intracellular membrane traffic. We report a possible function of Rab27a, a protein implicated in… (More)
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Highly Cited
1995
Highly Cited
1995
Choroideremia, an X-linked form of retinal degeneration, results from defects in the Rab escort protein-1 (REP-1) gene. REP-1 and… (More)
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