Language:
  
[Sign in] [Register]   

EIAab logo

Index > Protein center > NDP(Gene name) > Human
  • Add your favorite
  • NDP (Gene name),
  • Norrin (Protein name ),  NDP_HUMAN from NCBI database.
  • top
  • Come back to page head.
  • |
  • General Annotation
  • |
  • Antigen Annotation
  • |
  • 3D
  • |
  • Predicted Eptitope
  • |
  • Vaild Sequence
  • |
  • Related Databases
  • |
  • Feedback
  • Gene name:
    NDP(EVR2);
    Protein name:
    Norrin;
    Alternative:
    X-linked exudative vitreoretinopathy 2 protein;Norrie disease protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with FZD4. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity). Oligomer; disulfide-linked.
    Function:
    Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.
    Subcellular Location:
    Secreted
    Protein Attributes:
    Sequence length:
    133
    Sequence:
    50:
    MRKHVLAASF | SMLSLLVIMG | DTDSKTDSSF | IMDSDPRRCM | RHHYVDSISH | 
    100:
    PLYKCSSKMV | LLARCEGHCS | QASRSEPLVS | FSTVLKQPFR | SSCHCCRPQT | 
    133:
    SKLKALRLRC | SGGMRLTATY | RYILSCHCEE | CNS
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    KEGG:
    Pfam:
    SMR:
    String:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human Norrin
    MSDS:
    Please sign in first.
    ELISA Kit for Human Norrin
    Cat.:
    E14889h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Norrin
    Cat.:
    E14889m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Norrin
    Cat.:
    U14889h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Norrin
    MSDS:
    Please sign in first.
    CLIA Kit for Human Norrin
    Cat.:
    U14889m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Norrin
    Polyclonal Antibody for Human Norrin
    Polyclonal Antibody for Human Norrin
    Monoclonal Antibody for Human Norrin
    Monoclonal Antibody for Human Norrin
    Monoclonal Antibody for Human Norrin
    Protein for Human Norrin
    Protein for Human Norrin
    Protein for Human Norrin

    R&D Technical Data
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    Precision
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    Recovery
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    Linearity
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Retina.
    2. 2.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    3. 3.
      "Isolation and characterization of a candidate gene for Norrie disease."
      Chen Z.-Y. , Hendriks R.W. , Jobling M.A. , Powell J.F. , Breakfield X.O. , Sims K.B. , Craig I.W.
      Nat. Genet.1:204-208(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Fetal retina.
    4. 4.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Uterus.
    5. 5.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
    7. 7.
      "Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix."
      Perez-Vilar J. , Hill R.L.
      J. Biol. Chem.272:33410-33415(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;OLIGOMERIZATION;MUTAGENESIS OF CYS-95;CHARACTERIZATION OF VARIANTS ND GLU-60 AND GLN-121
    8. 8.
      "Localization of the Norrie disease gene mRNA by in situ hybridization."
      Hartzer M.K. , Cheng M. , Liu X. , Shastry B.S.
      Brain Res. Bull.49:355-358(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TISSUE SPECIFICITY
    9. 9.
      "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure."
      Meitinger T. , Meindl A. , Bork P. , Rost B. , Sander C. , Haasemann M. , Murken J.
      Nat. Genet.5:376-380(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: 3D-STRUCTURE MODELING
    10. 10.
      "Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex."
      Ke J. , Harikumar K.G. , Erice C. , Chen C. , Gu X. , Wang L. , Parker N. , Cheng Z. , Xu W. , Williams B.O. , Melcher K. , Miller L.J. , Xu H.E.
      Genes Dev.27:2305-2319(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 30-133;DISULFIDE BONDS;INTERACTION WITH FZD4 AND LRP6
    11. 11.
      "Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families."
      Fuentes J.J. , Volpini V. , Fernandez-Toral F. , Coto E. , Estivill X.
      Hum. Mol. Genet.2:1953-1955(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND ASN-58 AND GLN-121
    12. 12.
      "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease."
      Fuchs S. , Xu S.Y. , Caballero M. , Salcedo M. , Lo A.L. , Wedemann H. , Gal A.
      Hum. Mol. Genet.3:655-656(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND ARG-13
    13. 13.
      "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene."
      Joos K.M. , Kimura A.E. , Vandenburgh K. , Bartley J.A. , Stone E.M.
      Arch. Ophthalmol.112:1574-1579(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND ARG-39
    14. 14.
      "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins."
      Meindl A. , Berger W. , Meitinger T. , van de Pol D. , Achatz H. , Dorner C. , Haasemann M. , Hellebrand H. , Gal A. , Cremers F.P.M. , Ropers H.-H.
      Nat. Genet.2:139-143(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND CYS-44; GLU-60 AND TYR-96
    15. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND PHE-61; CYS-74; CYS-75; PRO-90 AND TYR-96
    16. 16.
      "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier."
      Chen Z.-Y. , Battinelli E.M. , Woodruff G. , Young I. , Breakefield X.O. , Craig I.W.
      Hum. Mol. Genet.2:1727-1729(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND SER-69
    17. 17.
      "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy."
      Chen Z.-Y. , Battinelli E.M. , Fielder A. , Bundey S. , Sims K. , Breakefield X.O. , Craig I.W.
      Nat. Genet.5:180-183(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR2 PHE-124
    18. 18.
      "Mutations in the Norrie disease gene: a new mutation in a Japanese family."
      Isashiki Y. , Ohba N. , Yanagita T. , Hokita N. , Hotta Y. , Hayakawa M. , Fujiki K. , Tanabe U.
      Br. J. Ophthalmol.79:703-704(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND ARG-95
    19. 19.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND PRO-61; ASP-63; TRP-65; ASN-123; 94-GLN--LEU-96 AND 121-ARG--ILE-123 DEL
    20. 20.
      "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease."
      Meindl A. , Lorenz B. , Achatz H. , Hellebrand H. , Schmitz-Valckenberg P. , Meitinger T.
      Hum. Mol. Genet.4:489-490(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND GLN-104; TRP-121 AND GLN-121
    21. 21.
      "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif."
      Strasberg P. , Liede H.A. , Stein T. , Warren I. , Sutherland J. , Ray P.N.
      Hum. Mol. Genet.4:2179-2180(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND TYR-65
    22. 22.
      "Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype."
      Gal A. , Veske A. , Jojart G. , Grammatico B. , Huber B. , Gu S. , del Porto G. , Senyi K.
      Acta Ophthalmol. Scand. Suppl.219:13-16(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND SER-126
    23. 23.
      "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein."
      Johnson K. , Mintz-Hittner H.A. , Conley Y.P. , Ferrell R.E.
      Clin. Genet.50:113-115(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR2 LEU-121
    24. 24.
      "Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome."
      Fuchs S. , van de Pol D. , Beudt U. , Kellner U. , Meire F. , Berger W. , Gal A.
      Hum. Mutat.8:85-88(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND CYS-74 AND ARG-110
    25. 25.
      "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.72:242-244(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND THR-105 AND GLY-110
    26. 26.
      "Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively."
      Walker J.L. , Dixon J. , Fenton C.R. , Hungerford J. , Lynch S.A. , Stenhouses S.A.R. , Christian A. , Craig I.W.
      Hum. Mutat.9:53-56(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND PHE-101
    27. 27.
      "Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy."
      Shastry B.S. , Hejtmancik J.F. , Trese M.T.
      Hum. Mutat.9:396-401(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR2 LYS-41; ARG-42; ASN-58 AND CYS-120;VARIANT RETINOPATHY OF PREMATURITY PRO-108
    28. 28.
      "Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency."
      Rehm H.L. , Gutierrez-Espeleta G.A. , Garcia R. , Jimenez G. , Khetarpal U. , Priest J.M. , Sims K.B. , Keats B.J.B. , Morton C.C.
      Hum. Mutat.9:402-408(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND PHE-61
    29. 29.
      "Norrie disease and exudative vitreoretinopathy in families with affected female carriers."
      Shastry B.S. , Hiraoka M. , Trese D.C. , Trese M.T.
      Eur. J. Ophthalmol.9:238-242(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND TYR-96 AND ASP-118
    30. 30.
      "Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis."
      Black G.C.M. , Perveen R. , Bonshek R. , Cahill M. , Clayton-Smith J. , Lloyd I.C. , McLeod D.
      Hum. Mol. Genet.8:2031-2035(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND TRP-96
    31. 31.
      "Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier."
      Yamada K. , Limprasert P. , Ratanasukon M. , Tengtrisorn S. , Yingchareonpukdee J. , Vasiknanonte P. , Kitaoka T. , Ghadami M. , Niikawa N. , Kishino T.
      Am. J. Med. Genet.100:52-55(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND PRO-16 AND PRO-75
    32. 32.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND CYS-38; GLN-43; CYS-44; MET-45; CYS-90 AND ARG-128
    33. 33.
      "A novel missense Norrie disease mutation associated with a severe ocular phenotype."
      Khan A.O. , Shamsi F.A. , Al-Saif A. , Kambouris M.
      J. Pediatr. Ophthalmol. Strabismus41:361-363(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND PHE-95
    34. 34.
      "Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR."
      Riveiro-Alvarez R. , Trujillo-Tiebas M.J. , Gimenez-Pardo A. , Garcia-Hoyos M. , Cantalapiedra D. , Lorda-Sanchez I. , Rodriguez de Alba M. , Ramos C. , Ayuso C.
      Mol. Vis.11:705-712(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR2 CYS-38 AND GLN-121
    35. 35.
      "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity."
      Dickinson J.L. , Sale M.M. , Passmore A. , FitzGerald L.M. , Wheatley C.M. , Burdon K.P. , Craig J.E. , Tengtrisorn S. , Carden S.M. , Maclean H. , Mackey D.A.
      Clin. Exp. Ophthalmol.34:682-688(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR2 VAL-103;VARIANT ND ARG-43
    36. 36.
      "Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein."
      Allen R.C. , Russell S.R. , Streb L.M. , Alsheikheh A. , Stone E.M.
      Eye20:234-241(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND CYS-74 AND GLU-112
    37. 37.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND ASN-104
    38. 38.
      "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. A143:921-924(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ND GLU-45
    39. 39.
      "Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene."
      Wu W.-C. , Drenser K. , Trese M. , Capone A. Jr. , Dailey W.
      Arch. Ophthalmol.125:225-230(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR2 ARG-42; ILE-61 AND TRP-121;VARIANTS ND ARG-39 AND TYR-65;VARIANT PERSISTENT FETAL VASCULATURE SYNDROME SER-41
    40. 40.
      "Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy."
      Kondo H. , Qin M. , Kusaka S. , Tahira T. , Hasebe H. , Hayashi H. , Uchio E. , Hayashi K.
      Invest. Ophthalmol. Vis. Sci.48:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR2 LYS-18; ASN-54 AND LEU-115;VARIANT ND PRO-97
    41. 41.
      "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
      Nikopoulos K. , Venselaar H. , Collin R.W.J. , Riveiro-Alvarez R. , Boonstra F.N. , Hooymans J.M. , Mukhopadhyay A. , Shears D. , van Bers M. , de Wijs I.J. , van Essen A.J. , Sijmons R.H. , Tilanus M.A.D. , van Nouhuys C.E. , Ayuso C. , Hoefsloot L.H. , Cremers F.P.M.
      Hum. Mutat.31:656-666(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ND ARG-55; ARG-67; GLU-67; LEU-89; PRO-92 AND LEU-98
    Product Feedback Wall
    Hot Genes
    Atf2 ASPRO ACE ALCAM C19orf80 Trap1a KSR2 Gdf5
    Top Searches
    Ubiquitin-protein ligase Ubiquitin ELISA metalloproteinase Tumor necrosis Asprosin TRAP1A Alpha
    Why choose EIAAB
    Our products have been quoted by many publications in famous journals such as Cell; Cell Metabolism; Hepatology; Biomaterials.more
    Further Information
    About us Protein center Bank account Distributors Terms & Conditions Career eiaab.cn

    Copyright & copy www.eiaab.com2006-2016 All Rights Reserved    EIAab         Email:eiaab@eiaab.com

    Twitter