Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations-Reference-Cited by-同舟云学术

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Published:2004-03-07 Issue:4 Volume:36 Page:361-369
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Inoue Ken,Khajavi Mehrdad,Ohyama Tomoko,Hirabayashi Shin-ichi,Wilson John,Reggin James D,Mancias Pedro,Butler Ian J,Wilkinson Miles F,Wegner Michael,Lupski James R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1322.pdf

Reference44 articles.

1. Inoue, K., Tanabe, Y. & Lupski, J.R. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann. Neurol. 46, 313–318 (1999).

2. Inoue, K. et al. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann. Neurol. 52, 836–842 (2002).

3. Kuhlbrodt, K., Herbarth, B., Sock, E., Hermans-Borgmeyer, I. & Wegner, M. Sox10, a novel transcriptional modulator in glial cells. J. Neurosci. 18, 237–250 (1998).

4. Herbarth, B. et al. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc. Natl. Acad. Sci. USA 95, 5161–5165 (1998).

5. Southard-Smith, E.M., Kos, L. & Pavan, W.J. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat. Genet. 18, 60–64 (1998).

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