Gene Review:
PHOX2B - paired-like homeobox 2b
Homo sapiens
Synonyms:
NBLST2, NBPhox, Neuroblastoma Phox, PHOX2B homeodomain protein, PMX2B, ...
- The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. Borghini, S., Bachetti, T., Fava, M., Di Duca, M., Cargnin, F., Fornasari, D., Ravazzolo, R., Ceccherini, I. Biochem. J. (2006)
- Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Trochet, D., Hong, S.J., Lim, J.K., Brunet, J.F., Munnich, A., Kim, K.S., Lyonnet, S., Goridis, C., Amiel, J. Hum. Mol. Genet. (2005)
- Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Garcia-Barceló, M., Sham, M.H., Lui, V.C., Chen, B.L., Ott, J., Tam, P.K. Gut (2003)
- Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Kijima, K., Sasaki, A., Niki, T., Umetsu, K., Osawa, M., Matoba, R., Hayasaka, K. Tohoku J. Exp. Med. (2004)
- Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Amiel, J., Laudier, B., Attié-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simonneau, M., Vekemans, M., Munnich, A., Gaultier, C., Lyonnet, S. Nat. Genet. (2003)
- The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Pattyn, A., Morin, X., Cremer, H., Goridis, C., Brunet, J.F. Nature (1999)
- PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Trochet, D., O'Brien, L.M., Gozal, D., Trang, H., Nordenskjöld, A., Laudier, B., Svensson, P.J., Uhrig, S., Cole, T., Niemann, S., Munnich, A., Gaultier, C., Lyonnet, S., Amiel, J. Am. J. Hum. Genet. (2005)
- Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B. Toyota, T., Yoshitsugu, K., Ebihara, M., Yamada, K., Ohba, H., Fukasawa, M., Minabe, Y., Nakamura, K., Sekine, Y., Takei, N., Suzuki, K., Itokawa, M., Meerabux, J.M., Iwayama-Shigeno, Y., Tomaru, Y., Shimizu, H., Hattori, E., Mori, N., Yoshikawa, T. Hum. Mol. Genet. (2004)
- Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. Bachetti, T., Bocca, P., Borghini, S., Matera, I., Prigione, I., Ravazzolo, R., Ceccherini, I. Int. J. Biochem. Cell Biol. (2007)
- Molecular analysis of congenital central hypoventilation syndrome. Sasaki, A., Kanai, M., Kijima, K., Akaba, K., Hashimoto, M., Hasegawa, H., Otaki, S., Koizumi, T., Kusuda, S., Ogawa, Y., Tuchiya, K., Yamamoto, W., Nakamura, T., Hayasaka, K. Hum. Genet. (2003)
- Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Bachetti, T., Matera, I., Borghini, S., Di Duca, M., Ravazzolo, R., Ceccherini, I. Hum. Mol. Genet. (2005)
- PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism. Cargnin, F., Flora, A., Di Lascio, S., Battaglioli, E., Longhi, R., Clementi, F., Fornasari, D. J. Biol. Chem. (2005)
- Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Gaultier, C., Trang, H., Dauger, S., Gallego, J. Pediatr. Res. (2005)
- Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat. Stornetta, R.L., Moreira, T.S., Takakura, A.C., Kang, B.J., Chang, D.A., West, G.H., Brunet, J.F., Mulkey, D.K., Bayliss, D.A., Guyenet, P.G. J. Neurosci. (2006)
- ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. Jiang, Y., Matsuo, T., Fujiwara, H., Hasebe, S., Ohtsuki, H., Yasuda, T. Acta Med. Okayama (2005)
- PMX2B, a new candidate gene for Hirschsprung's disease. Benailly, H.K., Lapierre, J.M., Laudier, B., Amiel, J., Attié, T., De Blois, M.C., Vekemans, M., Romana, S.P. Clin. Genet. (2003)
- Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. Ide, M., Yamada, K., Toyota, T., Iwayama, Y., Ishitsuka, Y., Minabe, Y., Nakamura, K., Hattori, N., Asada, T., Mizuno, Y., Mori, N., Yoshikawa, T. Hum. Genet. (2005)
- Molecular cloning and characterization of the promoter region of the human Phox2b gene. Jong Hong, S., Chae, H., Kim, K.S. Brain Res. Mol. Brain Res. (2004)
- Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Todd, E.S., Scott, N.M., Weese-Mayer, D.E., Weinberg, S.M., Berry-Kravis, E.M., Silvestri, J.M., Kenny, A.S., Hauptman, S.A., Zhou, L., Marazita, M.L. Pediatrics (2006)
- In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Weese-Mayer, D.E., Berry-Kravis, E.M., Marazita, M.L. Respiratory physiology & neurobiology. (2005)