RPGRRetinitis Pigmentosa GTPase Regulator
RPGRRetinitis Pigmentosa GTPase (Guanosine Triphosphatase) Regulator (genetics)
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References in periodicals archive ?
Martinez-Fernandez de la Camara et al., "Codon-optimized RPGR improves stability and efficacy of AAV8 gene therapy in two mouse models of X-linked retinitis pigmentosa," Molecular Therapy, vol.
Follow-up studies in mice identified key molecules that interact with RPGR to maintain the structure of photoreceptors.
Retina International (http://www.retina-interna-tional.org/), RPGR database (http://rpgr.hgu.mrc.ac.uk/index.php?select_db=RPGR), CEP290base (http:// cep290base.cmgg.be/), and BEST1 LOVD database (http:// www-huge.uni-regensburg.de/BESTLdatabase) were used to explore additional annotations and literature information, if present.
Dr Vinit Mahajan, who led the study, believes that the stem cells with corrected versions of the RPGR gene could be transplanted into the eyes of retinitis pigmentosa patients as a treatment for the disease.
The disease occurs in both humans and dogs, and is caused by defects in the RPGR gene and results in early, severe and progressive vision loss.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Several known genes are in the X-chromosome region between the DMD and OTC genes, including: (a) CYBB [cytochrome b-245, beta polypeptide (chronic granulomatous disease)], which encodes the cytochrome b (3 chain involved in superoxide production and mutations of which cause chronic granulomatous disease; (b) XK [X-linked Kx blood group (McLeod syndrome)], which is the X-linked Kx blood group of the kell precursor and mutations of which have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems; and (c) RPGR (retinitis pigmentosa GTPase regulator), the X-linked retinitis pigmentosa GTPase regulator isoform B.
The typing targeted 5 additional loci, including the 47-kDa protein (CP47 microsatellite), a serine repeat antigen (MSC6-7 minisatellite), a hypothetical retinitis pigmentosa GTPase regulator (RPGR minisatellite), and a hydroxyproline-rich glycoprotein (DZHRGP minisatellite and microsatellite) in chromosome 6 and the 70-kDa heat shock protein (HSP70 minisatellite) in chromosome 2.
The XIRIUS trial is intended to evaluate the safety, tolerability and efficacy of NSR-RPGR for the treatment of XLRP in patients with the RPGR mutation.
Sui, "A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)," American Journal of Medical Genetics Part A, vol.