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Journal Abstract Search


274 related items for PubMed ID: 10077527

  • 1. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
    Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A, Pavan WJ.
    Genome Res; 1999 Mar; 9(3):215-25. PubMed ID: 10077527
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  • 4. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
    Chan KK, Wong CK, Lui VC, Tam PK, Sham MH.
    J Cell Biochem; 2003 Oct 15; 90(3):573-85. PubMed ID: 14523991
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  • 7. Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.
    Maka M, Stolt CC, Wegner M.
    Dev Biol; 2005 Jan 01; 277(1):155-69. PubMed ID: 15572147
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  • 8. Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
    Yokoyama S, Takeda K, Shibahara S.
    J Biochem; 2006 Oct 01; 140(4):491-9. PubMed ID: 16921166
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  • 9. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.
    Cantrell VA, Owens SE, Chandler RL, Airey DC, Bradley KM, Smith JR, Southard-Smith EM.
    Hum Mol Genet; 2004 Oct 01; 13(19):2289-301. PubMed ID: 15294878
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  • 10. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
    Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Yu LH, Goto Y, Wegner M, Lupski JR.
    Hum Mol Genet; 2007 Dec 15; 16(24):3037-46. PubMed ID: 17855451
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  • 11. Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.
    Owens SE, Broman KW, Wiltshire T, Elmore JB, Bradley KM, Smith JR, Southard-Smith EM.
    Hum Mol Genet; 2005 Jun 01; 14(11):1549-58. PubMed ID: 15843399
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  • 12. Spatially restricted hypopigmentation associated with an Ednrbs-modifying locus on mouse chromosome 10.
    Rhim H, Dunn KJ, Aronzon A, Mac S, Cheng M, Lamoreux ML, Tilghman SM, Pavan WJ.
    Genome Res; 2000 Jan 01; 10(1):17-29. PubMed ID: 10645946
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  • 14. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
    Syrris P, Carter ND, Patton MA.
    Am J Med Genet; 1999 Nov 05; 87(1):69-71. PubMed ID: 10528251
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  • 17. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
    Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR.
    J Biol Chem; 2000 Dec 01; 275(48):37978-83. PubMed ID: 10973953
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  • 18. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
    Fernández RM, Núñez-Ramos R, Enguix-Riego MV, Román-Rodríguez FJ, Galán-Gómez E, Blesa-Sánchez E, Antiñolo G, Núñez-Núñez R, Borrego S.
    Am J Med Genet A; 2014 Feb 01; 164A(2):542-7. PubMed ID: 24311220
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