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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Usher Syndromes

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Disease relevance of Usher Syndromes


High impact information on Usher Syndromes


Chemical compound and disease context of Usher Syndromes


Biological context of Usher Syndromes


Anatomical context of Usher Syndromes


Gene context of Usher Syndromes


Analytical, diagnostic and therapeutic context of Usher Syndromes


  1. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. van Wijk, E., Pennings, R.J., te Brinke, H., Claassen, A., Yntema, H.G., Hoefsloot, L.H., Cremers, F.P., Cremers, C.W., Kremer, H. Am. J. Hum. Genet. (2004) [Pubmed]
  2. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Wayne, S., Der Kaloustian, V.M., Schloss, M., Polomeno, R., Scott, D.A., Hejtmancik, J.F., Sheffield, V.C., Smith, R.J. Hum. Mol. Genet. (1996) [Pubmed]
  3. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Cremers, F.P., Molloy, C.M., van de Pol, D.J., van den Hurk, J.A., Bach, I., Geurts van Kessel, A.H., Ropers, H.H. Hum. Mol. Genet. (1992) [Pubmed]
  4. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Schwartz, S.B., Aleman, T.S., Cideciyan, A.V., Windsor, E.A., Sumaroka, A., Roman, A.J., Rane, T., Smilko, E.E., Bennett, J., Stone, E.M., Kimberling, W.J., Liu, X.Z., Jacobson, S.G. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  5. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Chen, Z.Y., Hasson, T., Kelley, P.M., Schwender, B.J., Schwartz, M.F., Ramakrishnan, M., Kimberling, W.J., Mooseker, M.S., Corey, D.P. Genomics (1996) [Pubmed]
  6. Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Bok, D., Galbraith, G., Lopez, I., Woodruff, M., Nusinowitz, S., BeltrandelRio, H., Huang, W., Zhao, S., Geske, R., Montgomery, C., Van Sligtenhorst, I., Friddle, C., Platt, K., Sparks, M.J., Pushkin, A., Abuladze, N., Ishiyama, A., Dukkipati, R., Liu, W., Kurtz, I. Nat. Genet. (2003) [Pubmed]
  7. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Di Palma, F., Holme, R.H., Bryda, E.C., Belyantseva, I.A., Pellegrino, R., Kachar, B., Steel, K.P., Noben-Trauth, K. Nat. Genet. (2001) [Pubmed]
  8. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E.C., Kutsche, K., Nothwang, H.G., Seeliger, M., del C-Salcedó Cabrera, M., Vila, M.C., Molina, O.P., Gal, A., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  9. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  10. Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. Smits, B.M., Peters, T.A., Mul, J.D., Croes, H.J., Fransen, J.A., Beynon, A.J., Guryev, V., Plasterk, R.H., Cuppen, E. Genetics (2005) [Pubmed]
  11. Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Aleman, T.S., Duncan, J.L., Bieber, M.L., de Castro, E., Marks, D.A., Gardner, L.M., Steinberg, J.D., Cideciyan, A.V., Maguire, M.G., Jacobson, S.G. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  12. Analysis of phosducin as a candidate gene for retinopathies. Ara-Iwata, F., Jacobson, S.G., Gass, J.D., Hotta, Y., Fujiki, K., Hayakawa, M., Inana, G. Ophthalmic Genet. (1996) [Pubmed]
  13. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Astuto, L.M., Bork, J.M., Weston, M.D., Askew, J.W., Fields, R.R., Orten, D.J., Ohliger, S.J., Riazuddin, S., Morell, R.J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C.G., Cremers, C.W., Ayuso, C., Heckenlively, J.R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T.B., Kimberling, W.J. Am. J. Hum. Genet. (2002) [Pubmed]
  14. Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Gibbs, D., Kitamoto, J., Williams, D.S. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  15. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Raas-Rothschild, A., Wanders, R.J., Mooijer, P.A., Gootjes, J., Waterham, H.R., Gutman, A., Suzuki, Y., Shimozawa, N., Kondo, N., Eshel, G., Espeel, M., Roels, F., Korman, S.H. Am. J. Hum. Genet. (2002) [Pubmed]
  16. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Hasson, T., Heintzelman, M.B., Santos-Sacchi, J., Corey, D.P., Mooseker, M.S. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  17. Myosin VIIa participates in opsin transport through the photoreceptor cilium. Liu, X., Udovichenko, I.P., Brown, S.D., Steel, K.P., Williams, D.S. J. Neurosci. (1999) [Pubmed]
  18. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millán, J.M., Lehesjoki, A.E., Flannery, J.G., Avraham, K.B., Pietrokovski, S., Sankila, E.M., Beckmann, J.S., Lancet, D. Eur. J. Hum. Genet. (2002) [Pubmed]
  19. Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. Alagramam, K.N., Stahl, J.S., Jones, S.M., Pawlowski, K.S., Wright, C.G. J. Assoc. Res. Otolaryngol. (2005) [Pubmed]
  20. Histopathologic features of the temporal bone in usher syndrome type I. Wagenaar, M., Schuknecht, H., Nadol, J., Benraad-Van Rens, M., Pieke-Dahl, S., Kimberling, W., Cremers, C. Arch. Otolaryngol. Head Neck Surg. (2000) [Pubmed]
  21. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Weston, M.D., Luijendijk, M.W., Humphrey, K.D., Möller, C., Kimberling, W.J. Am. J. Hum. Genet. (2004) [Pubmed]
  22. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Johnson, K.R., Gagnon, L.H., Webb, L.S., Peters, L.L., Hawes, N.L., Chang, B., Zheng, Q.Y. Hum. Mol. Genet. (2003) [Pubmed]
  23. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. Gibbs, D., Azarian, S.M., Lillo, C., Kitamoto, J., Klomp, A.E., Steel, K.P., Libby, R.T., Williams, D.S. J. Cell. Sci. (2004) [Pubmed]
  24. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. Kalay, E., de Brouwer, A.P., Caylan, R., Nabuurs, S.B., Wollnik, B., Karaguzel, A., Heister, J.G., Erdol, H., Cremers, F.P., Cremers, C.W., Brunner, H.G., Kremer, H. J. Mol. Med. (2005) [Pubmed]
  25. Searching for evidence of DFNB2. Astuto, L.M., Kelley, P.M., Askew, J.W., Weston, M.D., Smith, R.J., Alswaid, A.F., Al-Rakaf, M., Kimberling, W.J. Am. J. Med. Genet. (2002) [Pubmed]
  26. The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. Blaydon, D.C., Mueller, R.F., Hutchin, T.P., Leroy, B.P., Bhattacharya, S.S., Bird, A.C., Malcolm, S., Bitner-Glindzicz, M. Clin. Genet. (2003) [Pubmed]
  27. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Plantinga, R.F., Kleemola, L., Huygen, P.L., Joensuu, T., Sankila, E.M., Pennings, R.J., Cremers, C.W. Audiol. Neurootol. (2005) [Pubmed]
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