| 1 | NDP, WNT7A, WNT7B
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| Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood-brain barrier and blood-retina barrier development and maintenance.
|
| Wang Y, Cho C, Williams J, Smallwood PM, Zhang C, Junge HJ, Nathans J.
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| Proc Natl Acad Sci U S A 115(50):E11827-E11836. doi: 10.1073/pnas.1813217115. Epub 2018 Nov 26.
2018
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| 2 | EVR1, EVR2, EVR4, EVR5, EVR6, EVR8, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
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| Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
|
| Rao FQ, Cai XB, Cheng FF, Cheng W, Fang XL, Li N, Huang XF, Li LH, Jin ZB.
|
| Invest Ophthalmol Vis Sci 58(5):2623-2629. doi: 10.1167/iovs.16-21324.
2017
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| 3 | EVR2, NDP
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| Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
|
| Musada GR, Jalali S, Hussain A, Chururu AR, Gaddam PR, Chakrabarti S, Kaur I.
|
| Mol Vis 22:491-502. eCollection 2016.
2016
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| 4 | NDP
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| Norrin protected blood-brain barrier via frizzled-4/β-catenin pathway after subarachnoid hemorrhage in rats.
|
| Chen Y, Zhang Y, Tang J, Liu F, Hu Q, Luo C, Tang J, Feng H, Zhang JH.
|
| Stroke 46(2):529-36. doi: 10.1161/STROKEAHA.114.007265. Epub 2014 Dec 30.
2015
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| 5 | NDP
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| A novel signaling pathway regulates colon cancer angiogenesis through Norrin.
|
| Planutis K, Planutiene M, Holcombe RF.
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| Sci Rep 4:5630. doi: 10.1038/srep05630.
2014
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| 6 | ND, NDP
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| A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
|
| Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K.
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| Audiol Neurootol 19(3):203-9. doi: 10.1159/000358866. Epub 2014 Apr 30.
2014
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| 7 | FZD4, LRP5, LRP6, NDP
|
| Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex.
|
| Ke J, Harikumar KG, Erice C, Chen C, Gu X, Wang L, Parker N, Cheng Z, Xu W, Williams BO, Melcher K, Miller LJ, Xu HE.
|
| Genes Dev 27(21):2305-19. doi: 10.1101/gad.228544.113.
2013
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| 8 | NDP
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| Multi-functional norrin is a ligand for the LGR4 receptor.
|
| Deng C, Reddy P, Cheng Y, Luo CW, Hsiao CL, Hsueh AJ.
|
| J Cell Sci 126(Pt 9):2060-8. doi: 10.1242/jcs.123471. Epub 2013 Feb 26.
2013
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| 9 | NDP
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| Norrin expression in endothelial cells in the developing mouse retina.
|
| Lee H, Jo DH, Kim JH, Kim JH.
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| Acta Histochem 115(5):447-51. doi: 10.1016/j.acthis.2012.10.008. Epub 2012 Dec 1.
2013
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| 10 | NDP
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| Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.
|
| McNeill B, Mazerolle C, Bassett EA, Mears AJ, Ringuette R, Lagali P, Picketts DJ, Paes K, Rice D, Wallace VA.
|
| Hum Mol Genet 22(5):1005-16. doi: 10.1093/hmg/dds505. Epub 2012 Nov 30.
2013
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| 11 | ND, NDP
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| Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.
|
| Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W.
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| Hum Mol Genet 21(12):2619-30. doi: 10.1093/hmg/dds087. Epub 2012 Mar 6.
2012
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| 12 | FZD4, NDP
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| Norrin/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity.
|
| Wang Y, Rattner A, Zhou Y, Williams J, Smallwood PM, Nathans J.
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| Cell 151(6):1332-44. doi: 10.1016/j.cell.2012.10.042.
2012
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| 13 | DUPXPP, MAOA, MAOB, NDP
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| Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
|
| Klitten LL, Møller RS, Ravn K, Hjalgrim H, Tommerup N.
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| Eur J Hum Genet 19(1):1-2. Epub 2010 Sep 1. No abstract available. PMID: 20808325 2011
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| 14 | EVR1, FZD4, LRP5, NDP, TSPAN12
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| An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy.
|
| Zhang K, Harada Y, Wei X, Shukla D, Rajendran A, Tawansy K, Bedell M, Lim S, Shaw PX, He X, Yang Z.
|
| J Biol Chem 286(12):10210-5. Epub 2010 Dec 22.
2011
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| 15 | DELXP11, MAOA, MAOB, ND, NDP
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| Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
|
| Staropoli JF, Xin W, Sims KB.
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| J Med Genet 47(11):786-90. Epub 2010 Aug 2.PMID: 20679667 2010
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| 16 | FZD4, LRP5, NDP, TSPAN12
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| The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease.
|
| Ye X, Wang Y, Nathans J.
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| Trends Mol Med. 16(9):417-25. 2010
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| 17 | FZD4, LRP5, NDP
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| Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization.
|
| Ye X, Wang Y, Cahill H, Yu M, Badea TC, Smallwood PM, Peachey NS, Nathans J.
|
| Cell. 139(2):285-98. 2009
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| 18 | LRP5, NDP, TSPAN12
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| TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
|
| Junge, H. J., Yang, S., Burton, J. B., Paes, K., Shu, X., French, D. M., Costa, M., Rice, D. S., Ye, W.
|
| Cell. 139, 299-311 2009
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| 19 | NDP, EVR2, FZD4, EVR1, LRP5, EVR4
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| Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
|
| Qin M, Kondo H, Tahira T, Hayashi K.
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| Hum Genet 122(6):615-23. Epub 2007 Oct 23. 2008
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| 20 | NDP
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| A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
|
| Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N.
|
| Am J Med Genet A 143(9):921-4. 2007
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| 21 | NDP
|
| Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies.
|
| Holmström G, van Wijngaarden P, Coster DJ, Williams KA.
|
| Br J Ophthalmol 91(12):1704-8. Review.
2007
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| 22 | FZD4, NDP
|
| Mutational analysis of Norrin-Frizzled4 recognition.
|
| Smallwood PM, Williams J, Xu Q, Leahy DJ, Nathans J.
|
| J Biol Chem 282(6):4057-68. Epub 2006 Dec 6.
2007
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| 23 | DELXP11, EFHC2, MAOA, MAOB, ND, NDP
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| Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.
|
| Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M.
|
| Am J Med Genet A 143A(9):916-20.PMID: 17431911 2007
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| 24 | NDP
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| Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature.
|
| Luhmann UF, Lin J, Acar N, Lammel S, Feil S, Grimm C, Seeliger MW, Hammes HP, Berger W.
|
| Invest Ophthalmol Vis Sci 46(9):3372-82. 2005
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| 25 | EVR1, EVR2, NDP, FZD4
|
| Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
|
| Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J.
|
| Cell 116(6):883-95. 2004
|
| 26 | DELXP11, MAO, ND, NDP
|
| Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.
|
| Suárez-Merino B, Bye J, McDowall J, Ross M, Craig IW.
|
| Hum Mutat 17(6):523.PMID: 11385715 2001
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| 27 | NDP
|
| Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression.
|
| Kenyon JR, et al.
|
| Gene 227(2):181-8. 1999
|
| 28 | COATS, HMI, NDP
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| Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
|
| Black GC, et al.
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| Hum Mol Genet 8(11):2031-5 1999
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| 29 | NDP
|
| Localization of the Norrie disease gene mRNA by in situ hybridization.
|
| Hartzer, M. K., Cheng, M., Liu, X., Shastry, B. S.
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| Brain Res. Bull. 49, 355-358 1999
|
| 30 | ND, NDP
|
| Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.
|
| Shastry BS.
|
| Biochem Biophys Res Commun 246 : 35-38. 1998
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| 31 | ND, NDP
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| Isolated Norrie disease in a female caused by a balanced translocation t(X,6).
|
| Meire FM, et al.
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| Ophthalmic Genet 19 : 203-207. 1998
|
| 32 | NDP
|
| Two new mutations in exon 3 of the NDP gene : S73X and S101F associated with severe and less severe ocular phenotype, respectively.
|
| Walker JL, et al.
|
| Hum Mutat 9 : 53-56. 1997
|
| 33 | NDP
|
| Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
|
| Rehm HL, et al.
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| Hum Mutat 9 : 402-408. 1997
|
| 34 | EVR2, NDP
|
| Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
|
| Shastry BS, et al.
|
| Hum Mutat 9 : 396-401. 1997
|
| 35 | NDP
|
| Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene.
|
| Schroeder B, Hesse L, Bruck W, Gal A.
|
| Ophthalmic Genet 18(2):71-7. 1997
|
| 36 | EVR2, NDP
|
| Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
|
| Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadala P, Dallapiccola B.
|
| Am J Med Genet 72(2):242-4. 1997
|
| 37 | NDP
|
| Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
|
| Perez-Vilar J, Hill RL.
|
| J Biol Chem 272(52):33410-5.
1997
|
| 38 | NDP
|
| An animal model for Norrie disease (ND) : gene targeting of the mouse NDgene.
|
| Berger W, et al.
|
| Hum Mol Genet 5 : 51-59. 1996
|
| 39 | NDP
|
| Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
|
| Fuchs S, et al.
|
| Hum Mutat 8 : 85-88. 1996
|
| 40 | NDP
|
| Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
|
| Kellner U, et al.
|
| Ophthalmic Genet 17 : 67-74. 1996
|
| 41 | EVR2, NDP
|
| X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
|
| Johnson K, et al.
|
| Clin Genet 50 : 113-115. 1996
|
| 42 | NDP
|
| Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.
|
| Caballero M, et al.
|
| Ophthalmic Genet 17 : 187-191. 1996
|
| 43 | NDP
|
| Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations.
|
| Mintz-Hittner HA, et al.
|
| Ophthalmology 103 : 2128-2134. 1996
|
| 44 | NDP
|
| An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.
|
| Berger W, van de Pol D, Bächner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH.
|
| Hum Mol Genet. 5(1):51-9. 1996
|
| 45 | NDP
|
| Mutations in the Norrie disease gene : a new mutation in a Japanese family.
|
| Isashiki Y, et al.
|
| Br J Ophthalmol 79 : 703-708. 1995
|
| 46 | NDP
|
| Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy.
|
| Fuchs S, Kellner U, Wedemann H, Gal A.
|
| Hum Mutat 6(3):257-9. 1995
|
| 47 | NDP
|
| A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
|
| Strasberg P, et al.
|
| Hum Mol Genet 4 : 2179-2180. 1995
|
| 48 | NDP
|
| A bidirectional YAC walk from the Norrie disease (NDP) locus.
|
| Black GCM, et al.
|
| Genomics 25 : 644-649. 1995
|
| 49 | NDP
|
| Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
|
| Meindl A, et al.
|
| Hum Mol Genet 4 : 489-490. 1995
|
| 50 | NDP
|
| Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.
|
| Isashiki Y, et al.
|
| Hum Genet 95 : 105-108. 1995
|
| 51 | EVR2, NDP
|
| Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.
|
| Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT.
|
| Genomics 27(2):341-4. 1995
|
| 52 | NDP
|
| A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
|
| Fuchs S, et al.
|
| Hum Mol Genet 3 : 655-656. 1994
|
| 53 | NDP
|
| Norrie disease pedigree carrying the novel mutation C65Y, predicted to disrupt the cystine knot growth factor motif, analyzed by RasI restriction digestion. (abstr)
|
| Strasberg PM, et al.
|
| Am J Hum Genet 55 : A365. 1994
|
| 54 | NDP
|
| Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
|
| Fuentes JJ, et al.
|
| Hum Mol Genet 2 : 1953-1955. 1993
|
| 55 | NDP
|
| Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
|
| Meitinger T, et al.
|
| Nat Genet 5 : 376-380. 1993
|
| 56 | NDP
|
| Norrie disease gene : characterization of deletions and possible function.
|
| Chen ZY, et al.
|
| Genomics 16 : 533-535. 1993
|
| 57 | NDP
|
| Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.
|
| Wong F, et al.
|
| Arch Ophthalmol 111 : 1553-1557. 1993
|
| 58 | NDP
|
| Inversion (X) (p11.4q22) associated with Norrie disease in a four generation family.
|
| Pettenati MJ, et al.
|
| Am J Med Genet 45 : 577-580. 1993
|
| 59 | NDP
|
| Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
|
| Bergen AA, et al.
|
| Cytogenet Cell Genet 62 : 231-235. 1993
|
| 60 | NDP
|
| Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
|
| Chen ZY, et al.
|
| Hum Mol Genet 2 : 1727-1729. 1993
|
| 61 | EVR2, NDP
|
| A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
|
| Chen ZY, et al.
|
| Nat Genet 5 : 180-183. 1993
|
| 62 | NDP, PRD
|
| X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.
|
| Ravia Y, Braier-Goldstein O, Bat-Miriam KM, Erlich S, Barkai G, Goldman B.
|
| Hum Mol Genet 2(8):1295-7. 1993
|
| 63 | NDP
|
| Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.
|
| Lindsay S, et al.
|
| Hum Genet 88 : 349-350. 1992
|
| 64 | NDP
|
| The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
|
| Sims KB, et al.
|
| Hum Mol Genet 1 : 83-89. 1992
|
| 65 | NDP
|
| Characterization of a YAC containing part or all of the Norrie disease locus.
|
| Chen ZY, et al.
|
| Hum Mol Genet 1 : 161-164. 1992
|
| 66 | NDP
|
| Mutations in the candidate gene for Norrie disease.
|
| Berger W, et al.
|
| Hum Mol Genet 1 : 461-465. 1992
|
| 67 | NDP
|
| Isolation and characterization of a candidate gene for Norrie disease.
|
| Chen ZY, et al.
|
| Nat Genet 1 : 204-208. 1992
|
| 68 | NDP
|
| Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
|
| Meindl A, et al.
|
| Nat Genet 2 : 139-143. 1992
|
| 69 | NDP
|
| Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).
|
| Wolff G, et al.
|
| J Med Genet 29 : 816-819. 1992
|
| 70 | NDP
|
| Isolation of a candidate gene for Norrie disease by positional cloning.
|
| Berger W, et al.
|
| Nat Genet 2 : 84. 1992
|
| 71 | DELXP11, MAOA, MAOB, ND, NDP
|
| Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
|
| Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE.
|
| Am J Med Genet 42(1):127-34.PMID: 1308352 [ 1992
|
| 72 | DXS255, NDP
|
| Close linkage of M27beta DXS255 to Norrie disease (NDP) in a 5-generation family including a probable manifesting carrier.
|
| Tyfield L, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2086. 1991
|
| 73 | TBC1D25, NDP
|
| Ornithine aminotransferase (OAT) : recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.
|
| Ngo JT, et al.
|
| Genomics 6 : 123-128. 1990
|
| 74 | MAOA, MAOB, ND, NDP
|
| Human monoamine oxidase A and B genes map to Xp11.23 and are deleted in a patient with Norrie disease.
|
| Lan NC, Heinzmann C, Gal A, Klisak I, Orth U, Lai E, Grimsby J, Sparkes RS, Mohandas T, Shih JC.
|
| Genomics 4 : 552-559. 1989
|
| 75 | NDP
|
| Norrie disease : linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.
|
| Ngo JT, Bateman JB, Cortessis V, Sparkes RS, Mohandas T, Inana G, Spence MA.
|
| Genomics 4 : 539-545. 1989
|
| 76 | NDP
|
| Duplicate report crossing over in Norrie disease family.
|
| Ngo J, Spence MA, Cortessis V, Bateman JB, Sparkes RS.
|
| Am J Med Genet 33 : 286. 1989
|
| 77 | ND, NDP
|
| Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.
|
| Zhu D, et al.
|
| Am J Med Genet 33 : 485-488. 1989
|
| 78 | NDP, MAOA
|
| Norrie disease gene is distinct from the monoamine oxidase genes.
|
| Sims KB, et al.
|
| Am J Hum Genet 45 : 424-434. 1989
|
| 79 | NDP
|
| Physical fine-mapping of a deletion spanning the Norrie gene.
|
| Diergaarde PJ, et al.
|
| Hum Genet 84 : 22-26. 1989
|
| 80 | NDP, DXS7
|
| Recombinational event between Norrie disease and DXS7 loci.
|
| Ngo JT, et al.
|
| Clin Genet 34 : 43-47. 1988
|
| 81 | NDP
|
| Brief clinical report : further linkage data on Norrie disease.
|
| Kivlin JD, et al.
|
| Am J Med Genet 26 : 733-736. 1987
|
| 82 | NDP
|
| Norrie's disease : delineation of carriers among daughters of obligate carriers by linkage analysis.
|
| Warburg M, et al.
|
| Trans Ophthalmol Soc UK 105 : 88-93. 1987
|
| 83 | ND, NDP
|
| Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
|
| Ohba N, Yamashita T.
|
| Br J Ophthalmol 70 : 64-71. 1986
|
| 84 | NDP
|
| Localization of the gene for Norrie disease by linkage to the DXS7locus.
|
| Gal A, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 633. 1985
|
| 85 | NDP
|
| Norrie's disease: close linkage with genetic markers from the proximalshort arm of the X chromosome.
|
| Gal A, et al.
|
| Clin Genet 27 : 282-283. 1985
|
| 86 | NDP
|
| Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.
|
| Bleeker-Wagemakers LM, et al.
|
| Hum Genet 71 : 211-214. 1985
|