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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Branchial Region

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Disease relevance of Branchial Region


Psychiatry related information on Branchial Region


High impact information on Branchial Region


Chemical compound and disease context of Branchial Region


Biological context of Branchial Region


Anatomical context of Branchial Region


Associations of Branchial Region with chemical compounds


Gene context of Branchial Region

  • Immunostaining of an endothelial marker, platelet endothelial cell adhesion molecule CD-31, shows that the initial formation of the branchial arch arteries is not disturbed in ETA-/- or ECE-1(-)/- embryos [29].
  • In addition, whole-mount in situ hybridization of 9.5-day mouse embryos showed that Arnt2 mRNA was expressed in the dorsal neural tube and branchial arch 1, while Arnt transcripts were detected broadly in various tissues of mesodermal and endodermal origins [30].
  • We found that Fgf8 mutation increases the severity of the primary defect caused by Tbx1 haploinsufficiency, i.e. early hypoplasia of the fourth pharyngeal arch arteries, consistent with the time and location of the shared expression domain of the two genes [31].
  • The distinct focal defects within the branchial arches of the Dlx1, Dlx2 and Dlx5 mutants, along with the nested expression of their RNAs, support a model in which these genes have both redundant and unique functions in the regulation of regional patterning of the craniofacial ectomesenchyme [32].
  • To address this issue, we have analyzed how Hoxa2 specifies segmental identity in the second branchial arch [33].

Analytical, diagnostic and therapeutic context of Branchial Region


  1. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Liao, J., Kochilas, L., Nowotschin, S., Arnold, J.S., Aggarwal, V.S., Epstein, J.A., Brown, M.C., Adams, J., Morrow, B.E. Hum. Mol. Genet. (2004) [Pubmed]
  2. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Azuma, N., Hirakiyama, A., Inoue, T., Asaka, A., Yamada, M. Hum. Mol. Genet. (2000) [Pubmed]
  3. Targeted deletion of a branchial arch-specific enhancer reveals a role of dHAND in craniofacial development. Yanagisawa, H., Clouthier, D.E., Richardson, J.A., Charité, J., Olson, E.N. Development (2003) [Pubmed]
  4. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome. Kalatzis, V., Sahly, I., El-Amraoui, A., Petit, C. Dev. Dyn. (1998) [Pubmed]
  5. Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Jabs, E.W., Coss, C.A., Hayflick, S.J., Whitmore, T.E., Pauli, R.M., Kirkpatrick, S.J., Meyers, D.A., Goldberg, R., Day, D.W., Rosenbaum, K.N. Genomics (1991) [Pubmed]
  6. Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation. Knauer-Fischer, S.A., Richter-Unruh, A., Albrecht, B., Gillessen-Kaesbach, G., Hauffa, B.P. Clin. Dysmorphol. (2004) [Pubmed]
  7. The SH2 tyrosine phosphatase shp2 is required for mammalian limb development. Saxton, T.M., Ciruna, B.G., Holmyard, D., Kulkarni, S., Harpal, K., Rossant, J., Pawson, T. Nat. Genet. (2000) [Pubmed]
  8. Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein. Kuroiwa, Y., Kaneko-Ishino, T., Kagitani, F., Kohda, T., Li, L.L., Tada, M., Suzuki, R., Yokoyama, M., Shiroishi, T., Wakana, S., Barton, S.C., Ishino, F., Surani, M.A. Nat. Genet. (1996) [Pubmed]
  9. A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene. Rijli, F.M., Mark, M., Lakkaraju, S., Dierich, A., Dollé, P., Chambon, P. Cell (1993) [Pubmed]
  10. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Lindsay, E.A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H.F., Scambler, P.J., Bradley, A., Baldini, A. Nature (2001) [Pubmed]
  11. Fgfr1 regulates patterning of the pharyngeal region. Trokovic, N., Trokovic, R., Mai, P., Partanen, J. Genes Dev. (2003) [Pubmed]
  12. Ethanol injection sclerotherapy for Baker's cyst, thyroglossal duct cyst, and branchial cleft cyst. Fukumoto, K., Kojima, T., Tomonari, H., Kontani, K., Murai, S., Tsujimoto, F. Annals of plastic surgery. (1994) [Pubmed]
  13. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Poswillo, D. The British journal of oral surgery. (1975) [Pubmed]
  14. Clinical appearance of spontaneous and induced first and second branchial arch syndromes. Jacobsson, C., Granström, G. Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi. (1997) [Pubmed]
  15. Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer. Charité, J., McFadden, D.G., Merlo, G., Levi, G., Clouthier, D.E., Yanagisawa, M., Richardson, J.A., Olson, E.N. Genes Dev. (2001) [Pubmed]
  16. The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins. Guazzi, S., Lonigro, R., Pintonello, L., Boncinelli, E., Di Lauro, R., Mavilio, F. EMBO J. (1994) [Pubmed]
  17. Tolerance induction by thymic medullary epithelium. Hoffmann, M.W., Allison, J., Miller, J.F. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  18. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Clement-Jones, M., Schiller, S., Rao, E., Blaschke, R.J., Zuniga, A., Zeller, R., Robson, S.C., Binder, G., Glass, I., Strachan, T., Lindsay, S., Rappold, G.A. Hum. Mol. Genet. (2000) [Pubmed]
  19. A new family of mouse homeo box-containing genes: molecular structure, chromosomal location, and developmental expression of Hox-7.1. Hill, R.E., Jones, P.F., Rees, A.R., Sime, C.M., Justice, M.J., Copeland, N.G., Jenkins, N.A., Graham, E., Davidson, D.R. Genes Dev. (1989) [Pubmed]
  20. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. Kurihara, Y., Kurihara, H., Oda, H., Maemura, K., Nagai, R., Ishikawa, T., Yazaki, Y. J. Clin. Invest. (1995) [Pubmed]
  21. Regulation of Dlx3 gene expression in visceral arches by evolutionarily conserved enhancer elements. Sumiyama, K., Ruddle, F.H. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  22. Xpbx1b and Xmeis1b play a collaborative role in hindbrain and neural crest gene expression in Xenopus embryos. Maeda, R., Ishimura, A., Mood, K., Park, E.K., Buchberg, A.M., Daar, I.O. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  23. Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system. Hollenberg, S.M., Sternglanz, R., Cheng, P.F., Weintraub, H. Mol. Cell. Biol. (1995) [Pubmed]
  24. Retinoic acid signalling in the development of branchial arches. Mark, M., Ghyselinck, N.B., Chambon, P. Curr. Opin. Genet. Dev. (2004) [Pubmed]
  25. Retinoid signaling is essential for patterning the endoderm of the third and fourth pharyngeal arches. Wendling, O., Dennefeld, C., Chambon, P., Mark, M. Development (2000) [Pubmed]
  26. Tissue effects on the expression of serotonin, tyrosine hydroxylase and GABA in cultures of neurogenic cells from the neuraxis and branchial arches. Mackey, H.M., Payette, R.F., Gershon, M.D. Development (1988) [Pubmed]
  27. Development of rat embryos cultured in glucose-deficient media. Ellington, S.K. Diabetes (1987) [Pubmed]
  28. Antagonism of hypervitaminosis A-induced anterior neural tube closure defects with a methyl-donor deficiency in murine whole-embryo culture. Santos-Guzmán, J., Arnhold, T., Nau, H., Wagner, C., Fahr, S.H., Mao, G.E., Caudill, M.A., Wang, J.C., Henning, S.M., Swendseid, M.E., Collins, M.D. J. Nutr. (2003) [Pubmed]
  29. Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. Yanagisawa, H., Hammer, R.E., Richardson, J.A., Williams, S.C., Clouthier, D.E., Yanagisawa, M. J. Clin. Invest. (1998) [Pubmed]
  30. cDNA cloning and tissue-specific expression of a novel basic helix-loop-helix/PAS factor (Arnt2) with close sequence similarity to the aryl hydrocarbon receptor nuclear translocator (Arnt). Hirose, K., Morita, M., Ema, M., Mimura, J., Hamada, H., Fujii, H., Saijo, Y., Gotoh, O., Sogawa, K., Fujii-Kuriyama, Y. Mol. Cell. Biol. (1996) [Pubmed]
  31. A genetic link between Tbx1 and fibroblast growth factor signaling. Vitelli, F., Taddei, I., Morishima, M., Meyers, E.N., Lindsay, E.A., Baldini, A. Development (2002) [Pubmed]
  32. Dlx5 regulates regional development of the branchial arches and sensory capsules. Depew, M.J., Liu, J.K., Long, J.E., Presley, R., Meneses, J.J., Pedersen, R.A., Rubenstein, J.L. Development (1999) [Pubmed]
  33. Mesenchymal patterning by Hoxa2 requires blocking Fgf-dependent activation of Ptx1. Bobola, N., Carapuço, M., Ohnemus, S., Kanzler, B., Leibbrandt, A., Neubüser, A., Drouin, J., Mallo, M. Development (2003) [Pubmed]
  34. The homeobox gene Hox 7.1 has specific regional and temporal expression patterns during early murine craniofacial embryogenesis, especially tooth development in vivo and in vitro. Mackenzie, A., Leeming, G.L., Jowett, A.K., Ferguson, M.W., Sharpe, P.T. Development (1991) [Pubmed]
  35. Dlx2 over-expression regulates cell adhesion and mesenchymal condensation in ectomesenchyme. McKeown, S.J., Newgreen, D.F., Farlie, P.G. Dev. Biol. (2005) [Pubmed]
  36. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Paznekas, W.A., Zhang, N., Gridley, T., Jabs, E.W. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  37. Topography and nerve supply of the cucullaris (trapezius) of skates. Boord, R.L., Sperry, D.G. J. Morphol. (1991) [Pubmed]
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