HESX1

Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia{{cite journal |vauthors=Dattani MT, Martinez-Barbera JP, Thomas PQ, etal |title=Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse |journal=Nat. Genet. |volume=19 |issue=2 |pages=125–33 |year=1998 |pmid=9620767 |doi=10.1038/477|s2cid=28880292 }} or Pickardt-Fahlbusch syndrome.{{cite journal |vauthors=Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T | title = Pituitary Stalk Interruption Syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms | journal = Eur J Endocrinol | volume = 164| issue = 4| pages = 457–65|date=January 2011 | pmid = 21270112 | doi = 10.1530/EJE-10-0892 | doi-access = free }}

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• {{cite journal |vauthors=Carvalho LR, Brinkmeier ML, Castinetti F, etal |title=Corepressors TLE1 and TLE3 interact with HESX1 and PROP1. |journal=Mol. Endocrinol. |volume=24 |issue= 4 |pages= 754–65 |year= 2010 |pmid= 20181723 |doi= 10.1210/me.2008-0359 |pmc=2852357 }}
• {{cite journal |vauthors=Kim SS, Kim Y, Shin YL, etal |title=Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging |journal=Horm. Res. |volume=60 |issue= 6 |pages= 277–83 |year= 2003 |pmid= 14646405 |doi= 10.1159/000074245 |s2cid=31256955 }}
• {{cite journal |vauthors=Torrado M, Revuelta J, Gonzalez C, etal |title=Role of conserved salt bridges in homeodomain stability and DNA binding |journal=J. Biol. Chem. |volume=284 |issue= 35 |pages= 23765–79 |year= 2009 |pmid= 19561080 |doi= 10.1074/jbc.M109.012054 |pmc=2749150 |doi-access=free }}
• {{cite journal |vauthors=Dattani MT, Robinson IC |title=HESX1 and Septo-Optic Dysplasia |journal=Rev Endocr Metab Disord |volume=3 |issue= 4 |pages= 289–300 |year= 2002 |pmid= 12424431 |doi= 10.1023/A:1020945406356|s2cid=26948906 }}
• {{cite journal |vauthors=Carvalho LR, Woods KS, Mendonca BB, etal |title=A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction |journal=J. Clin. Invest. |volume=112 |issue= 8 |pages= 1192–201 |year= 2003 |pmid= 14561704 |doi= 10.1172/JCI18589 |pmc=213489 |url=http://discovery.ucl.ac.uk/8411/1/8411.pdf }}
• {{cite journal |vauthors=Diaczok D, Romero C, Zunich J, etal |title=A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency |journal=J. Clin. Endocrinol. Metab. |volume=93 |issue= 11 |pages= 4351–9 |year= 2008 |pmid= 18728160 |doi= 10.1210/jc.2008-1189 |pmc=2582563 }}
• {{cite journal |vauthors=Fintini D, Salvatori R, Salemi S, etal |title=Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene |journal=Horm. Res. |volume=65 |issue= 2 |pages= 76–82 |year= 2006 |pmid= 16424673 |doi= 10.1159/000091033 |s2cid=29894981 }}
• {{cite journal |vauthors=Dateki S, Fukami M, Uematsu A, etal |title=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 |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue= 8 |pages= 4043–7 |year= 2010 |pmid= 20534763 |doi= 10.1210/jc.2010-0150 |doi-access= free }}
• {{cite journal |vauthors=Cohen RN, Cohen LE, Botero D, etal |title=Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 10 |pages= 4832–9 |year= 2003 |pmid= 14557462 |doi= 10.1210/jc.2002-021868 |doi-access= free }}
• {{cite journal |vauthors=Sobrier ML, Maghnie M, Vié-Luton MP |title=Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue= 11 |pages= 4528–36 |year= 2006 |pmid= 16940453 |doi= 10.1210/jc.2006-0426 |display-authors=etal|doi-access=free }}
• {{cite journal |vauthors=Dasen JS, Rosenfeld MG |title=Signaling and transcriptional mechanisms in pituitary development |journal=Annu. Rev. Neurosci. |volume=24 |pages= 327–55 |year= 2001 |pmid= 11283314 |doi= 10.1146/annurev.neuro.24.1.327 }}
• {{cite journal |vauthors=Tajima T, Hattorri T, Nakajima T, etal |title=Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 1 |pages= 45–50 |year= 2003 |pmid= 12519827 |doi= 10.1210/jc.2002-020818|doi-access=free }}
• {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928}}
• {{cite journal |vauthors=Mellado C, Poduri A, Gleason D, etal |title=Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort |journal=Am. J. Med. Genet. A |volume=152A |issue= 11 |pages= 2736–42 |year= 2010 |pmid= 20949537 |doi= 10.1002/ajmg.a.33684 |pmc=2965295 }}
• {{cite journal |vauthors=Sajedi E, Gaston-Massuet C, Andoniadou CL, etal |title=DNMT1 interacts with the developmental transcriptional repressor HESX1 |journal=Biochim. Biophys. Acta |volume=1783 |issue= 1 |pages= 131–43 |year= 2008 |pmid= 17931718 |doi= 10.1016/j.bbamcr.2007.08.010 |pmc=2233781 }}
• {{cite journal |vauthors=McNay DE, Turton JP, Kelberman D, etal |title=HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism |journal=J. Clin. Endocrinol. Metab. |volume=92 |issue= 2 |pages= 691–7 |year= 2007 |pmid= 17148560 |doi= 10.1210/jc.2006-1609 |doi-access= free }}
• {{cite journal |vauthors=Kelberman D, Dattani MT |title=Genetics of septo-optic dysplasia |journal=Pituitary |volume=10 |issue= 4 |pages= 393–407 |year= 2007 |pmid= 17587179 |doi= 10.1007/s11102-007-0055-5 |s2cid=25143489 }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal |vauthors=Ravasi T, Suzuki H, Cannistraci CV, etal |title=An atlas of combinatorial transcriptional regulation in mouse and man |journal=Cell |volume=140 |issue= 5 |pages= 744–52 |year= 2010 |pmid= 20211142 |doi= 10.1016/j.cell.2010.01.044 |pmc=2836267 }}
• {{cite journal |author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207–9 |year= 2003 |pmid= 14714741 |doi= 10.1515/jpem.2003.16.9.1207|s2cid=45542882 }}

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• [https://www.ncbi.nlm.nih.gov/books/NBK1378/ GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview]
• {{MeshName|HESX1+protein,+human}}

{{Transcription factors|g3}}

Category:Transcription factors

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