HESX1 Gene

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Liu, D. HESX1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3857 (accessed on 29 September 2026).

Liu D. HESX1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3857. Accessed September 29, 2026.

Liu, Dean. "HESX1 Gene" Encyclopedia, https://encyclopedia.pub/entry/3857 (accessed September 29, 2026).

Liu, D. (2020, December 22). HESX1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/3857

Liu, Dean. "HESX1 Gene." Encyclopedia. Web. 22 December, 2020.

HESX1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hesx1

HESX homeobox 1

genes

References

Brickman JM, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A,Beddington RS, Dattani M. Molecular effects of novel mutations in Hesx1/HESX1associated with human pituitary disorders. Development. 2001 Dec;128(24):5189-99.
Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S,Brickman JM, Arnhold IJ, Dattani MT. A homozygous mutation in HESX1 is associatedwith evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest. 2003 Oct;112(8):1192-201.
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, MårtenssonIL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-opticdysplasia in human and mouse. Nat Genet. 1998 Jun;19(2):125-33.
Dattani MT, Robinson IC. HESX1 and Septo-Optic Dysplasia. Rev Endocr MetabDisord. 2002 Dec;3(4):289-300. Review.
Kato Y, Kimoto F, Susa T, Nakayama M, Ishikawa A, Kato T. Pituitaryhomeodomain transcription factors HESX1 and PROP1 form a heterodimer on theinverted TAAT motif. Mol Cell Endocrinol. 2010 Feb 5;315(1-2):168-73. doi:10.1016/j.mce.2009.10.006.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, KellerE, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. HESX1 mutations are anuncommon cause of septooptic dysplasia and hypopituitarism. J Clin EndocrinolMetab. 2007 Feb;92(2):691-7.
Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.Novel HESX1 mutations associated with a life-threatening neonatal phenotype,pituitary aplasia, but normally located posterior pituitary and no optic nerveabnormalities. J Clin Endocrinol Metab. 2006 Nov;91(11):4528-36.
Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vié-Luton MP, Van Vliet G,Amselem S. Alu-element insertion in the homeodomain of HESX1 and aplasia of theanterior pituitary. Hum Mutat. 2005 May;25(5):503.
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, FujiedaK. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and opticnerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.J Clin Endocrinol Metab. 2003 Jan;88(1):45-50.
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.Heterozygous HESX1 mutations associated with isolated congenital pituitaryhypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1;10(1):39-45.

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Subjects: Genetics & Heredity

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Update Date: 22 Dec 2020

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