BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

507 related articles for article (PubMed ID: 9462749)

  • 1. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
    Pingault V; Bondurand N; Kuhlbrodt K; Goerich DE; Préhu MO; Puliti A; Herbarth B; Hermans-Borgmeyer I; Legius E; Matthijs G; Amiel J; Lyonnet S; Ceccherini I; Romeo G; Smith JC; Read AP; Wegner M; Goossens M
    Nat Genet; 1998 Feb; 18(2):171-3. PubMed ID: 9462749
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
    Southard-Smith EM; Kos L; Pavan WJ
    Nat Genet; 1998 Jan; 18(1):60-4. PubMed ID: 9425902
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.
    Mollaaghababa R; Pavan WJ
    Oncogene; 2003 May; 22(20):3024-34. PubMed ID: 12789277
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
    Edery P; Attié T; Amiel J; Pelet A; Eng C; Hofstra RM; Martelli H; Bidaud C; Munnich A; Lyonnet S
    Nat Genet; 1996 Apr; 12(4):442-4. PubMed ID: 8630502
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 90(3):573-85. PubMed ID: 14523991
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
    Pingault V; Girard M; Bondurand N; Dorkins H; Van Maldergem L; Mowat D; Shimotake T; Verma I; Baumann C; Goossens M
    Hum Genet; 2002 Aug; 111(2):198-206. PubMed ID: 12189494
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 140(4):491-9. PubMed ID: 16921166
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
    Bidaud C; Salomon R; Van Camp G; Pelet A; Attié T; Eng C; Bonduelle M; Amiel J; Nihoul-Fékété C; Willems PJ; Munnich A; Lyonnet S
    Eur J Hum Genet; 1997; 5(4):247-51. PubMed ID: 9359047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
    Inoue K; Shilo K; Boerkoel CF; Crowe C; Sawady J; Lupski JR; Agamanolis DP
    Ann Neurol; 2002 Dec; 52(6):836-42. PubMed ID: 12447940
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 16(24):3037-46. PubMed ID: 17855451
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 87(1):69-71. PubMed ID: 10528251
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
    Hofstra RM; Osinga J; Tan-Sindhunata G; Wu Y; Kamsteeg EJ; Stulp RP; van Ravenswaaij-Arts C; Majoor-Krakauer D; Angrist M; Chakravarti A; Meijers C; Buys CH
    Nat Genet; 1996 Apr; 12(4):445-7. PubMed ID: 8630503
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.
    Cossais F; Wahlbuhl M; Kriesch J; Wegner M
    Hum Mol Genet; 2010 Jun; 19(12):2409-20. PubMed ID: 20308050
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.
    Shimotake T; Tanaka S; Fukui R; Makino S; Maruyama R
    J Pediatr Surg; 2007 Apr; 42(4):725-31. PubMed ID: 17448776
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells.
    Yokoyama S; Takeda K; Shibahara S
    FEBS J; 2006 Apr; 273(8):1805-20. PubMed ID: 16623715
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
    Amiel J; Salomon R; Attié-Bitach T; Touraine R; Steffann J; Pelet A; Nihoul-Fékété C; Vekemans M; Munnich A; Lyonnet S
    J Soc Biol; 2000; 194(3-4):125-8. PubMed ID: 11324313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 277(1):155-69. PubMed ID: 15572147
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
    Chaoui A; Watanabe Y; Touraine R; Baral V; Goossens M; Pingault V; Bondurand N
    Hum Mutat; 2011 Dec; 32(12):1436-49. PubMed ID: 21898658
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
    Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M
    Mamm Genome; 2002 Jan; 13(1):30-5. PubMed ID: 11773966
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.