Crossref journal-article
Elsevier BV
The American Journal of Human Genetics (78)
Bibliography

Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C. M., Downey, L. M., Zhang, K., & Inglehearn, C. F. (2004). Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q. The American Journal of Human Genetics, 74(4), 721–730.

Authors 18
  1. Carmel Toomes (first)
  2. Helen M. Bottomley (additional)
  3. Richard M. Jackson (additional)
  4. Katherine V. Towns (additional)
  5. Sheila Scott (additional)
  6. David A. Mackey (additional)
  7. Jamie E. Craig (additional)
  8. Li Jiang (additional)
  9. Zhenglin Yang (additional)
  10. Richard Trembath (additional)
  11. Geoffrey Woodruff (additional)
  12. Cheryl Y. Gregory-Evans (additional)
  13. Kevin Gregory-Evans (additional)
  14. Michael J. Parker (additional)
  15. Graeme C.M. Black (additional)
  16. Louise M. Downey (additional)
  17. Kang Zhang (additional)
  18. Chris F. Inglehearn (additional)
References 48 Referenced 280
  1. 10.1038/35083081 / Nat Cell Biol / Novel mechanisms of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/arrow by Bafico (2001)
  2. {'key': '10.1086/383202_bib10', 'first-page': '473', 'article-title': 'Familial exudative vitreoretinopathy', 'volume': '93', 'author': 'Benson', 'year': '1995', 'journal-title': 'Trans Am Ophthalmol Soc'} / Trans Am Ophthalmol Soc / Familial exudative vitreoretinopathy by Benson (1995)
  3. 10.1021/bi00040a017 / Biochemistry / Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain by Bieri (1995)
  4. 10.1056/NEJMoa013444 / N Engl J Med / High bone density due to a mutation in LDL-receptor-related protein 5 by Boyden (2002)
  5. 10.1006/bbrc.1998.9061 / Biochem Biophys Res Commun / Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family by Brown (1998)
  6. 10.1074/jbc.M300191200 / J Biol Chem / Functional characterization of WNT7A signalling in PC12 cells by Caricasole (2003)
  7. 10.1093/nar/gkg500 / Nucleic Acids Res / Multiple sequence alignment with the Clustal series of programs by Chenna (2003)
  8. 10.1086/344344 / Am J Hum Genet / Detecting polymorphisms and mutations in candidate genes by Collins (2002)
  9. 10.1034/j.1399-0004.1998.5440409.x / Clin Genet / Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity by De Crecchio (1998)
  10. 10.1086/318790 / Am J Hum Genet / A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13 by Downey (2001)
  11. 10.1038/41798 / Nature / Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module by Fass (1997)
  12. 10.1002/ajmg.1320220104 / Am J Med Genet / Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview by Frontali (1985)
  13. 10.1073/pnas.0133792100 / Proc Natl Acad Sci USA / Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion by Fujino (2003)
  14. 10.1016/S0092-8674(01)00571-2 / Cell / LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development by Gong (2001)
  15. 10.1001/archopht.1971.01000010152007 / Arch Ophthalmol / Familial exudative vitreoretinopathy: an expanded view by Gow (1971)
  16. 10.1016/S0378-1119(98)00311-4 / Gene / Cloning of a novel member of the low-density lipoprotein receptor family by Hey (1998)
  17. 10.1242/dev.00674 / Development / Wise, a context-dependent activator and inhibitor of Wnt signalling by Itasaki (2003)
  18. 10.1083/jcb.200201089 / J Cell Biol / Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor by Kato (2002)
  19. 10.1093/oxfordjournals.jbchem.a022223 / J Biochem / A new low density lipoprotein receptor related protein, LRP5, is expressed in hepatocytes and adrenal cortex, and recognizes apoliprotein E by Kim (1998)
  20. 10.1136/bjo.87.10.1291 / Br J Ophthalmol / Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity by Kondo (2003)
  21. 10.1007/s004390100503 / Hum Genet / Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis by Kondo (2001)
  22. 10.1007/BF00413539 / Albrecht Von Graefes Arch Klin Exp Ophthalmol / Familial exudative vitreoretinopathy by Laqua (1980)
  23. 10.1016/S0002-9394(14)74800-7 / Am J Ophthalmol / The gene for autosomal dominant exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11 by Li (1992)
  24. {'key': '10.1086/383202_bib32', 'first-page': '749', 'article-title': 'The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533', 'volume': '51', 'author': 'Li', 'year': '1992', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533 by Li (1992)
  25. 10.1086/338450 / Am J Hum Genet / A mutation in the LDL receptor–related protein 5 gene results in the autosomal dominant high–bone-mass trait by Little (2002)
  26. 10.1016/S0378-1119(02)01106-X / Gene / Kremen2 modulates Dickkopf2 activity during Wnt/LRP6 signalling by Mao (2003)
  27. 10.1038/35077108 / Nature / LDL-receptor-related protein 6 is a receptor for Dickkopf proteins by Mao (2001)
  28. 10.1006/geno.1994.1176 / Genomics / Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families by Müller (1994)
  29. 10.1002/prot.340110407 / Proteins / Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons by Nicholls (1991)
  30. 10.1136/bjo.64.2.112 / Br J Ophthalmol / Autosomal dominant exudative vitreoretinopathy by Ober (1980)
  31. 10.1038/35035124 / Nature / An LDL receptor-related protein mediates Wnt signalling in mice by Pinson (2000)
  32. 10.1016/S0002-9394(14)73977-7 / Am J Ophthalmol / X-linked recessive familial exudative vitreoretinopathy by Plager (1992)
  33. 10.3109/13816819609057871 / Ophthalmic Genet / Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity by Price (1996)
  34. 10.1038/ng957 / Nat Genet / Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy by Robitaille (2002)
  35. 10.1126/science.1078124 / Science / Structure of the LDL receptor extracellular domain at endosomal pH by Rudenko (2002)
  36. 10.1093/nar/gkg520 / Nucleic Acids Res / SWISS-MODEL: an automated protein homology-modelling server by Schwede (2003)
  37. 10.1016/S0960-9822(01)00290-1 / Curr Biol / Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6 by Semënov (2001)
  38. 10.1034/j.1399-0004.2000.580412.x / Clin Genet / Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy by Shastry (2000)
  39. 10.1006/geno.1997.4863 / Genomics / Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy by Shastry (1997)
  40. 10.1002/(SICI)1096-8628(19970317)69:2<217::AID-AJMG19>3.0.CO;2-O / Am J Med Genet / Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity by Shastry (1997)
  41. 10.1038/35035117 / Nature / LDL-receptor-related proteins in Wnt signal transduction by Tamai (2000)
  42. Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Zhang K, Black GCM, Fryer A, Downey LM, Inglehearn CF. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci (in press)
  43. {'key': '10.1086/383202_bib51', 'first-page': '37', 'article-title': 'Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)', 'volume': '10', 'author': 'Toomes', 'year': '2004', 'journal-title': 'Mol Vis'} / Mol Vis / Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR) by Toomes (2004)
  44. 10.1093/hmg/10.13.1369 / Hum Mol Genet / Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy by Toomes (2001)
  45. 10.1016/S0002-9394(14)76893-X / Am J Ophthalmol / Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy by van Nouhuys (1991)
  46. 10.1086/368277 / Am J Hum Genet / Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density by Van Wesenbeeck (2003)
  47. 10.1038/35035110 / Nature / Arrow encodes an LDL-receptor-related protein essential for Wingless signalling by Wehrli (2000)
  48. 10.1016/S0960-9822(00)00868-X / Curr Biol / Mutual antagonism between Dickkopf1 and Dickkopf2 regulates Wnt/β-catenin signalling by Wu (2000)
Dates
Type When
Created 21 years, 5 months ago (March 17, 2004, 7:20 a.m.)
Deposited 6 years, 6 months ago (Feb. 14, 2019, 5:56 a.m.)
Indexed 37 minutes ago (Sept. 7, 2025, 8:56 p.m.)
Issued 21 years, 5 months ago (April 1, 2004)
Published 21 years, 5 months ago (April 1, 2004)
Published Print 21 years, 5 months ago (April 1, 2004)
Funders 0

None

@article{Toomes_2004, title={Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q}, volume={74}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/383202}, DOI={10.1086/383202}, number={4}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Toomes, Carmel and Bottomley, Helen M. and Jackson, Richard M. and Towns, Katherine V. and Scott, Sheila and Mackey, David A. and Craig, Jamie E. and Jiang, Li and Yang, Zhenglin and Trembath, Richard and Woodruff, Geoffrey and Gregory-Evans, Cheryl Y. and Gregory-Evans, Kevin and Parker, Michael J. and Black, Graeme C.M. and Downey, Louise M. and Zhang, Kang and Inglehearn, Chris F.}, year={2004}, month=apr, pages={721–730} }