Citations for
1APIT, HESX1
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
Vivenza D, Godi M, Faienza MF, Mellone S, Moia S, Rapa A, Petri A, Bellone S, Riccomagno S, Cavallo L, Giordano M, Bona G.
Eur J Endocrinol 164(5):705-13. doi: 10.1530/EJE-11-0047. Epub 2011 Feb 16. 2011
2HESX1, TCF3
HESX1- and TCF3-mediated repression of Wnt/-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.
Development 138(22):4931-42. doi: 10.1242/dev.066597. Epub 2011 Oct 17. 2011
3HESX1, PROP1, TLE1, TLE3
Corepressors TLE1 and TLE3 interact with HESX1 and PROP1.
Carvalho LR, Brinkmeier ML, Castinetti F, Ellsworth BS, Camper SA.
Mol Endocrinol 24(4):754-65. Epub 2010 Feb 24.PMID: 20181723 2010
4HESX1, SOPT
Septo-optic dysplasia.
Webb EA, Dattani MT.
Eur J Hum Genet 18(4):393-7. Epub 2009 Jul 22. Review.PMID: 19623216 2010
5HESX1, SOPT
Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia.
Mueller OT, Coovadia A.
Hum Genet 127(4):478-9. No abstract available. 2010
6HESX1, PROP1
Pituitary homeodomain transcription factors HESX1 and PROP1 form a heterodimer on the inverted TAAT motif.
Kato Y, Kimoto F, Susa T, Nakayama M, Ishikawa A, Kato T.
Mol Cell Endocrinol 315(1-2):168-73. doi: 10.1016/j.mce.2009.10.006. Epub 2009 Oct 29. 2010
7DNMT1, HESX1
DNMT1 interacts with the developmental transcriptional repressor HESX1.
Sajedi E, Gaston-Massuet C, Andoniadou CL, Signore M, Hurd PJ, Dattani M, Martinez-Barbera JP.
Biochim Biophys Acta 1783(1):131-43. Epub 2007 Sep 7. 2008
8HESX1, OTX2
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
Diaczok D, Romero C, Zunich J, Marshall I, Radovick S.
J Clin Endocrinol Metab 93(11):4351-9. Epub 2008 Aug 26. 2008
9HESX1
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT.
J Clin Endocrinol Metab 92(2):691-7. Epub 2006 Dec 5. 2007
10APIT, HESX1, SOPT
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
Sobrier ML, Maghnie M, Vi�-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.
J Clin Endocrinol Metab 91(11):4528-36. Epub 2006 Aug 29. 2006
11HESX1
HESX1 expression in human normal pituitaries and pituitary adenomas.
Mantovani G, Asteria C, Pellegrini C, Bosari S, Alberti L, Bondioni S, Peverelli E, Spada A, Beck-Peccoz P.
Mol Cell Endocrinol 247(1-2):135-9. Epub 2006 Jan 18. Erratum in: Mol Cell Endocrinol. 2006 Jun 22;251(1-2):112. 2006
12ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI.
Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
13HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
Clin Endocrinol (Oxf) 62(2):163-8. 2005
14APIT, HESX1
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.
Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vi-Luton MP, Van Vliet G, Amselem S.
Hum Mutat 25(5):503. 2005
15HESX1, SOPT
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K.
J Clin Endocrinol Metab 88(1):45-50. 2003
16HESX1
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.
Cohen RN, Cohen LE, Botero D, Yu C, Sagar A, Jurkiewicz M, Radovick S.
J Clin Endocrinol Metab 88(10):4832-9. 2003
17HESX1, SOPT
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS.
Hum Mol Genet 10(1):39-45. 2001
18HESX1, SOPT
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC.
Acta Paediatr Suppl 88(433):49-54. Review. 1999
19HESX1, SOPT
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
Dattani MT, et al.
Nat Genet 19 : 125-133. 1998
20HESX1
HES-1, a novel homeobox gene expressed by murine embryonic stem cells, identifies a new class of homeobox genes.
Thomas PQ, et al.
Nucleic Acids Res 20 : 5840. 1992