- VSX1
Visual system homeobox 1 homolog, CHX10-like (zebrafish), also known as VSX1, is a human
gene .cite web | title = Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813| accessdate = ]PBB_Summary
section_title =
summary_text = The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.cite web | title = Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Semina EV, Mintz-Hittner HA, Murray JC |title=Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. |journal=Genomics |volume=63 |issue= 2 |pages= 289–93 |year= 2000 |pmid= 10673340 |doi= 10.1006/geno.1999.6093
*cite journal | author=Hayashi T, Huang J, Deeb SS |title=RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. |journal=Genomics |volume=67 |issue= 2 |pages= 128–39 |year= 2000 |pmid= 10903837 |doi= 10.1006/geno.2000.6248
*cite journal | author=Deloukas P, Matthews LH, Ashurst J, "et al." |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a
*cite journal | author=Héon E, Greenberg A, Kopp KK, "et al." |title=VSX1: a gene for posterior polymorphous dystrophy and keratoconus. |journal=Hum. Mol. Genet. |volume=11 |issue= 9 |pages= 1029–36 |year= 2002 |pmid= 11978762 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mintz-Hittner HA, Semina EV, Frishman LJ, "et al." |title=VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. |journal=Ophthalmology |volume=111 |issue= 4 |pages= 828–36 |year= 2004 |pmid= 15051220 |doi= 10.1016/j.ophtha.2003.07.006
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Bisceglia L, Ciaschetti M, De Bonis P, "et al." |title=VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 1 |pages= 39–45 |year= 2005 |pmid= 15623752 |doi= 10.1167/iovs.04-0533
*cite journal | author=Dorval KM, Bobechko BP, Ahmad KF, Bremner R |title=Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. |journal=J. Biol. Chem. |volume=280 |issue= 11 |pages= 10100–8 |year= 2005 |pmid= 15647262 |doi= 10.1074/jbc.M412676200
*cite journal | author=Valleix S, Nedelec B, Rigaudiere F, "et al." |title=H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 1 |pages= 48–54 |year= 2006 |pmid= 16384943 |doi= 10.1167/iovs.05-0479
*cite journal | author=Aldave AJ, Yellore VS, Salem AK, "et al." |title=No VSX1 gene mutations associated with keratoconus. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 7 |pages= 2820–2 |year= 2006 |pmid= 16799019 |doi= 10.1167/iovs.05-1530
*cite journal | author=Barbaro V, Di Iorio E, Ferrari S, "et al." |title=Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 12 |pages= 5243–50 |year= 2007 |pmid= 17122109 |doi= 10.1167/iovs.06-0185
*cite journal | author=Liskova P, Ebenezer ND, Hysi PG, "et al." |title=Molecular analysis of the VSX1 gene in familial keratoconus. |journal=Mol. Vis. |volume=13 |issue= |pages= 1887–91 |year= 2007 |pmid= 17960127 |doi=PBB_Controls
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