Biology:HESX1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.[1]
Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Clinical significance
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia[2] or Pickardt-Fahlbusch syndrome.[3]
References
- ↑ "Entrez Gene: HESX homeobox 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8820.
- ↑ "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse". Nat. Genet. 19 (2): 125–33. 1998. doi:10.1038/477. PMID 9620767.
- ↑ "Pituitary Stalk Interruption Syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms". Eur J Endocrinol 164 (4): 457–65. January 2011. doi:10.1530/EJE-10-0892. PMID 21270112.
Further reading
- "Corepressors TLE1 and TLE3 interact with HESX1 and PROP1.". Mol. Endocrinol. 24 (4): 754–65. 2010. doi:10.1210/me.2008-0359. PMID 20181723.
- "Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging". Horm. Res. 60 (6): 277–83. 2003. doi:10.1159/000074245. PMID 14646405.
- "Role of conserved salt bridges in homeodomain stability and DNA binding". J. Biol. Chem. 284 (35): 23765–79. 2009. doi:10.1074/jbc.M109.012054. PMID 19561080.
- "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord 3 (4): 289–300. 2002. doi:10.1023/A:1020945406356. PMID 12424431.
- "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction". J. Clin. Invest. 112 (8): 1192–201. 2003. doi:10.1172/JCI18589. PMID 14561704. PMC 213489. http://discovery.ucl.ac.uk/8411/1/8411.pdf.
- "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 93 (11): 4351–9. 2008. doi:10.1210/jc.2008-1189. PMID 18728160.
- "Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene". Horm. Res. 65 (2): 76–82. 2006. doi:10.1159/000091033. PMID 16424673.
- "Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion". J. Clin. Endocrinol. Metab. 95 (8): 4043–7. 2010. doi:10.1210/jc.2010-0150. PMID 20534763.
- "Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia". J. Clin. Endocrinol. Metab. 88 (10): 4832–9. 2003. doi:10.1210/jc.2002-021868. PMID 14557462.
- "Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities". J. Clin. Endocrinol. Metab. 91 (11): 4528–36. 2006. doi:10.1210/jc.2006-0426. PMID 16940453.
- "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci. 24: 327–55. 2001. doi:10.1146/annurev.neuro.24.1.327. PMID 11283314.
- "Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient". J. Clin. Endocrinol. Metab. 88 (1): 45–50. 2003. doi:10.1210/jc.2002-020818. PMID 12519827.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort". Am. J. Med. Genet. A 152A (11): 2736–42. 2010. doi:10.1002/ajmg.a.33684. PMID 20949537.
- "DNMT1 interacts with the developmental transcriptional repressor HESX1". Biochim. Biophys. Acta 1783 (1): 131–43. 2008. doi:10.1016/j.bbamcr.2007.08.010. PMID 17931718.
- "HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism". J. Clin. Endocrinol. Metab. 92 (2): 691–7. 2007. doi:10.1210/jc.2006-1609. PMID 17148560.
- "Genetics of septo-optic dysplasia". Pituitary 10 (4): 393–407. 2007. doi:10.1007/s11102-007-0055-5. PMID 17587179.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "An atlas of combinatorial transcriptional regulation in mouse and man". Cell 140 (5): 744–52. 2010. doi:10.1016/j.cell.2010.01.044. PMID 20211142.
- Dattani MT (2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741.
External links
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- HESX1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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