Martinez-Barbera JP - Search Results

1

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P. Pauws E, et al. Hum Mol Genet. 2009 Nov 1;18(21):4171-9. doi: 10.1093/hmg/ddp368. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648291 Free PMC article.

2

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Mårtensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Dattani MT, et al. Nat Genet. 1998 Jun;19(2):125-33. doi: 10.1038/477. Nat Genet. 1998. PMID: 9620767

3

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Woods KS, et al. Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800844 Free PMC article.

4

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Ragge NK, et al. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21. Am J Hum Genet. 2005. PMID: 15846561 Free PMC article.

5

DNMT1 interacts with the developmental transcriptional repressor HESX1.

Sajedi E, Gaston-Massuet C, Andoniadou CL, Signore M, Hurd PJ, Dattani M, Martinez-Barbera JP. Sajedi E, et al. Biochim Biophys Acta. 2008 Jan;1783(1):131-43. doi: 10.1016/j.bbamcr.2007.08.010. Epub 2007 Sep 7. Biochim Biophys Acta. 2008. PMID: 17931718 Free PMC article.

6

Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development.

Gaston-Massuet C, Andoniadou CL, Signore M, Sajedi E, Bird S, Turner JM, Martinez-Barbera JP. Gaston-Massuet C, et al. Dev Biol. 2008 Dec 15;324(2):322-33. doi: 10.1016/j.ydbio.2008.08.008. Epub 2008 Aug 18. Dev Biol. 2008. PMID: 18775421 Free PMC article.

7

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.

Alatzoglou KS, Andoniadou CL, Kelberman D, Buchanan CR, Crolla J, Arriazu MC, Roubicek M, Moncet D, Martinez-Barbera JP, Dattani MT. Alatzoglou KS, et al. Hum Mutat. 2011 Dec;32(12):1376-80. doi: 10.1002/humu.21606. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21919124 Free PMC article.

8

HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain.

Andoniadou CL, Signore M, Young RM, Gaston-Massuet C, Wilson SW, Fuchs E, Martinez-Barbera JP. Andoniadou CL, et al. Development. 2011 Nov;138(22):4931-42. doi: 10.1242/dev.066597. Epub 2011 Oct 17. Development. 2011. PMID: 22007134 Free PMC article.

9

Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma.

Andoniadou CL, Gaston-Massuet C, Reddy R, Schneider RP, Blasco MA, Le Tissier P, Jacques TS, Pevny LH, Dattani MT, Martinez-Barbera JP. Andoniadou CL, et al. Acta Neuropathol. 2012 Aug;124(2):259-71. doi: 10.1007/s00401-012-0957-9. Epub 2012 Feb 18. Acta Neuropathol. 2012. PMID: 22349813 Free PMC article.

10

Developmental mechanisms directing early anterior forebrain specification in vertebrates.

Andoniadou CL, Martinez-Barbera JP. Andoniadou CL, et al. Cell Mol Life Sci. 2013 Oct;70(20):3739-52. doi: 10.1007/s00018-013-1269-5. Epub 2013 Feb 9. Cell Mol Life Sci. 2013. PMID: 23397132 Free PMC article. Review.

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