NDP (gene)

Norrie disease (pseudoglioma), also known as NDP, is a human genecite web | title = Entrez Gene: NDP Norrie disease (pseudoglioma)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4693| accessdate = ] associated with the Norrie disease.

PBB_Summary
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summary_text = NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina (pseudoglioma).cite web | title = Entrez Gene: NDP Norrie disease (pseudoglioma)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4693| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Berger W, van de Pol D, Warburg M, "et al." |title=Mutations in the candidate gene for Norrie disease. |journal=Hum. Mol. Genet. |volume=1 |issue= 7 |pages= 461–5 |year= 1993 |pmid= 1307245 |doi=
*cite journal | author=Black G, Redmond RM |title=The molecular biology of Norrie's disease. |journal=Eye (London, England) |volume=8 ( Pt 5) |issue= |pages= 491–6 |year= 1995 |pmid= 7835440 |doi=
*cite journal | author=Masckauchán TN, Kitajewski J |title=Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight. |journal=Physiology (Bethesda, Md.) |volume=21 |issue= |pages= 181–8 |year= 2007 |pmid= 16714476 |doi= 10.1152/physiol.00058.2005
*cite journal | author=Berger W, Meindl A, van de Pol TJ, "et al." |title=Isolation of a candidate gene for Norrie disease by positional cloning. |journal=Nat. Genet. |volume=1 |issue= 3 |pages= 199–203 |year= 1993 |pmid= 1303235 |doi= 10.1038/ng0692-199
*cite journal | author=Chen ZY, Hendriks RW, Jobling MA, "et al." |title=Isolation and characterization of a candidate gene for Norrie disease. |journal=Nat. Genet. |volume=1 |issue= 3 |pages= 204–8 |year= 1993 |pmid= 1303236 |doi= 10.1038/ng0692-204
*cite journal | author=Berger W, Meindl A, van de Pol TJ, "et al." |title=Isolation of a candidate gene for Norrie disease by positional cloning. |journal=Nat. Genet. |volume=2 |issue= 1 |pages= 84 |year= 1993 |pmid= 1303256 |doi= 10.1038/ng0992-84
*cite journal | author=Meindl A, Berger W, Meitinger T, "et al." |title=Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. |journal=Nat. Genet. |volume=2 |issue= 2 |pages= 139–43 |year= 1993 |pmid= 1303264 |doi= 10.1038/ng1092-139
*cite journal | author=Shastry BS, Hejtmancik JF, Plager DA, "et al." |title=Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. |journal=Genomics |volume=27 |issue= 2 |pages= 341–4 |year= 1995 |pmid= 7558002 |doi= 10.1006/geno.1995.1052
*cite journal | author=Schuback DE, Chen ZY, Craig IW, "et al." |title=Mutations in the Norrie disease gene. |journal=Hum. Mutat. |volume=5 |issue= 4 |pages= 285–92 |year= 1995 |pmid= 7627181 |doi= 10.1002/humu.1380050403
*cite journal | author=Meindl A, Lorenz B, Achatz H, "et al." |title=Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. |journal=Hum. Mol. Genet. |volume=4 |issue= 3 |pages= 489–90 |year= 1995 |pmid= 7795608 |doi=
*cite journal | author=Joos KM, Kimura AE, Vandenburgh K, "et al." |title=Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. |journal=Arch. Ophthalmol. |volume=112 |issue= 12 |pages= 1574–9 |year= 1995 |pmid= 7993212 |doi=
*cite journal | author=Fuchs S, Xu SY, Caballero M, "et al." |title=A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. |journal=Hum. Mol. Genet. |volume=3 |issue= 4 |pages= 655–6 |year= 1994 |pmid= 8069314 |doi=
*cite journal | author=Wong F, Goldberg MF, Hao Y |title=Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. |journal=Arch. Ophthalmol. |volume=111 |issue= 11 |pages= 1553–7 |year= 1993 |pmid= 8240113 |doi=
*cite journal | author=Chen ZY, Battinelli EM, Fielder A, "et al." |title=A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. |journal=Nat. Genet. |volume=5 |issue= 2 |pages= 180–3 |year= 1994 |pmid= 8252044 |doi= 10.1038/ng1093-180
*cite journal | author=Chen ZY, Battinelli EM, Woodruff G, "et al." |title=Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. |journal=Hum. Mol. Genet. |volume=2 |issue= 10 |pages= 1727–9 |year= 1994 |pmid= 8268931 |doi=
*cite journal | author=Meitinger T, Meindl A, Bork P, "et al." |title=Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 376–80 |year= 1994 |pmid= 8298646 |doi= 10.1038/ng1293-376
*cite journal | author=Strasberg P, Liede HA, Stein T, "et al." |title=A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif. |journal=Hum. Mol. Genet. |volume=4 |issue= 11 |pages= 2179–80 |year= 1996 |pmid= 8589700 |doi=
*cite journal | author=Johnson K, Mintz-Hittner HA, Conley YP, Ferrell RE |title=X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. |journal=Clin. Genet. |volume=50 |issue= 3 |pages= 113–5 |year= 1997 |pmid= 8946107 |doi=

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