These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

569 related articles for article (PubMed ID: 10973247)

  • 1. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
    Verpy E; Leibovici M; Zwaenepoel I; Liu XZ; Gal A; Salem N; Mansour A; Blanchard S; Kobayashi I; Keats BJ; Slim R; Petit C
    Nat Genet; 2000 Sep; 26(1):51-5. PubMed ID: 10973247
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
    Ouyang XM; Xia XJ; Verpy E; Du LL; Pandya A; Petit C; Balkany T; Nance WE; Liu XZ
    Hum Genet; 2002 Jul; 111(1):26-30. PubMed ID: 12136232
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
    Bitner-Glindzicz M; Lindley KJ; Rutland P; Blaydon D; Smith VV; Milla PJ; Hussain K; Furth-Lavi J; Cosgrove KE; Shepherd RM; Barnes PD; O'Brien RE; Farndon PA; Sowden J; Liu XZ; Scanlan MJ; Malcolm S; Dunne MJ; Aynsley-Green A; Glaser B
    Nat Genet; 2000 Sep; 26(1):56-60. PubMed ID: 10973248
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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 EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
    Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
    Zwaenepoel I; Verpy E; Blanchard S; Meins M; Apfelstedt-Sylla E; Gal A; Petit C
    Hum Mutat; 2001; 17(1):34-41. PubMed ID: 11139240
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
    Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
    Reiners J; van Wijk E; Märker T; Zimmermann U; Jürgens K; te Brinke H; Overlack N; Roepman R; Knipper M; Kremer H; Wolfrum U
    Hum Mol Genet; 2005 Dec; 14(24):3933-43. PubMed ID: 16301216
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
    Adato A; Lefèvre G; Delprat B; Michel V; Michalski N; Chardenoux S; Weil D; El-Amraoui A; Petit C
    Hum Mol Genet; 2005 Dec; 14(24):3921-32. PubMed ID: 16301217
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective myosin VIIA gene responsible for Usher syndrome type 1B.
    Weil D; Blanchard S; Kaplan J; Guilford P; Gibson F; Walsh J; Mburu P; Varela A; Levilliers J; Weston MD
    Nature; 1995 Mar; 374(6517):60-1. PubMed ID: 7870171
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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 RH; Bryda EC; Belyantseva IA; Pellegrino R; Kachar B; Steel KP; Noben-Trauth K
    Nat Genet; 2001 Jan; 27(1):103-7. PubMed ID: 11138008
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interactions in the network of Usher syndrome type 1 proteins.
    Adato A; Michel V; Kikkawa Y; Reiners J; Alagramam KN; Weil D; Yonekawa H; Wolfrum U; El-Amraoui A; Petit C
    Hum Mol Genet; 2005 Feb; 14(3):347-56. PubMed ID: 15590703
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene.
    Savas S; Frischhertz B; Batzer MA; Deininger PL; Keats BJ
    Genomics; 2004 Mar; 83(3):439-44. PubMed ID: 14962669
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
    Schneider E; Märker T; Daser A; Frey-Mahn G; Beyer V; Farcas R; Schneider-Rätzke B; Kohlschmidt N; Grossmann B; Bauss K; Napiontek U; Keilmann A; Bartsch O; Zechner U; Wolfrum U; Haaf T
    Hum Mol Genet; 2009 Feb; 18(4):655-66. PubMed ID: 19028668
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
    Savas S; Frischhertz B; Pelias MZ; Batzer MA; Deininger PL; Keats BB
    Hum Genet; 2002 Jan; 110(1):95-7. PubMed ID: 11810303
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ush1c216A knock-in mouse survives Katrina.
    Lentz J; Pan F; Ng SS; Deininger P; Keats B
    Mutat Res; 2007 Mar; 616(1-2):139-44. PubMed ID: 17174357
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].
    El-Amraoui A; Lefèvre G; Hardelin JP; Petit C
    Med Sci (Paris); 2005; 21(8-9):737-40. PubMed ID: 16115459
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
    Reiners J; Märker T; Jürgens K; Reidel B; Wolfrum U
    Mol Vis; 2005 May; 11():347-55. PubMed ID: 15928608
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
    von Brederlow B; Bolz H; Janecke A; La O Cabrera A; Rudolph G; Lorenz B; Schwinger E; Gal A
    Hum Mutat; 2002 Mar; 19(3):268-73. PubMed ID: 11857743
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.
    El-Amraoui A; Petit C
    J Cell Sci; 2005 Oct; 118(Pt 20):4593-603. PubMed ID: 16219682
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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 Nov; 99(23):14946-51. PubMed ID: 12407180
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.