Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction-Reference-Cited by-同舟云学术

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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

Published:2005-10-25 Issue:23 Volume:14 Page:3697-3708
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Trochet Delphine,Hong Seok Jong,Lim Jin Kyu,Brunet Jean-François,Munnich Arnold,Kim Kwang-Soo,Lyonnet Stanislas,Goridis Christo,Amiel Jeanne

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/23/3697/1490130/ddi401.pdf

Reference35 articles.

1. Pattyn, A., Morin, X., Cremer, H., Goridis, C. and Brunet, J.F. (1999) The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature, 399, 366–370.

2. Brunet, J.F. and Pattyn, A. (2002) Phox2 genes—from patterning to connectivity. Curr. Opin. Genet. Dev., 12, 435–440.

3. Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simonneau, M. et al. (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet., 33, 459–461.

4. Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A. et al. (2004) Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am. J. Hum. Genet., 74, 761–764.

5. Trochet, D., O'Brien, L.M., Gozal, D., Trang, H., Nordenskjold, A., Laudier, B., Svensson, P.J., Uhrig, S., Cole, T., Munnich, A. et al. (2005) PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am. J. Hum. Genet., 76, 421–426.

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1. Genetic identification of medullary neurons underlying congenital hypoventilation;Science Advances;2024-06-21

2. Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats;eLife;2024-05-10

3. Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats;eLife;2024-05-10

4. Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats;2024-04-11

5. Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions;Nature Communications;2024-03-02

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