218 related articles for article (PubMed ID: 17448776)
1. 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]
2. 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]
3. Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement.
Tomiyama H; Shimotake T; Ono S; Kimura O; Tokiwa K; Iwai N
J Pediatr Surg; 2001 Nov; 36(11):1685-8. PubMed ID: 11685702
[TBL] [Abstract][Full Text] [Related]
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; 90(3):573-85. PubMed ID: 14523991
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation.
Shimotake T; Tomiyama H; Aoi S; Iwai N
J Pediatr Surg; 2003 May; 38(5):698-701. PubMed ID: 12720173
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
Verheij JB; Sival DA; van der Hoeven JH; Vos YJ; Meiners LC; Brouwer OF; van Essen AJ
Eur J Paediatr Neurol; 2006 Jan; 10(1):11-7. PubMed ID: 16504559
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.
Sham MH; Lui VC; Fu M; Chen B; Tam PK
Gut; 2001 Aug; 49(2):220-6. PubMed ID: 11454798
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
Pingault V; Guiochon-Mantel A; Bondurand N; Faure C; Lacroix C; Lyonnet S; Goossens M; Landrieu P
Ann Neurol; 2000 Oct; 48(4):671-6. PubMed ID: 11026454
[TBL] [Abstract][Full Text] [Related]
17. Replacement of the Sox10 transcription factor by Sox8 reveals incomplete functional equivalence.
Kellerer S; Schreiner S; Stolt CC; Scholz S; Bösl MR; Wegner M
Development; 2006 Aug; 133(15):2875-86. PubMed ID: 16790476
[TBL] [Abstract][Full Text] [Related]
18. Association of SOX10 with schizophrenia in the Japanese population.
Maeno N; Takahashi N; Saito S; Ji X; Ishihara R; Aoyama N; Branko A; Miura H; Ikeda M; Suzuki T; Kitajima T; Yamanouchi Y; Kinoshita Y; Iwata N; Inada T; Ozaki N
Psychiatr Genet; 2007 Aug; 17(4):227-31. PubMed ID: 17621166
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]