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