HESX1

An Error has occured retrieving Wikidata item for infobox HESX1‏ (HESX homeobox 1) هوَ بروتين يُشَفر بواسطة جين HESX1 في الإنسان.

قراءة متعمقة

• Carvalho LR، Brinkmeier ML، Castinetti F، وآخرون (2010). "Corepressors TLE1 and TLE3 interact with HESX1 and PROP1". Mol. Endocrinol. ج. 24 ع. 4: 754–65. DOI:10.1210/me.2008-0359. PMC:2852357. PMID:20181723.
• Kim SS، Kim Y، Shin YL، وآخرون (2003). "Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging". Horm. Res. ج. 60 ع. 6: 277–83. DOI:10.1159/000074245. PMID:14646405.
• Torrado M، Revuelta J، Gonzalez C، وآخرون (2009). "Role of conserved salt bridges in homeodomain stability and DNA binding". J. Biol. Chem. ج. 284 ع. 35: 23765–79. DOI:10.1074/jbc.M109.012054. PMC:2749150. PMID:19561080.
• Dattani MT، Robinson IC (2002). "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord. ج. 3 ع. 4: 289–300. PMID:12424431.
• Carvalho LR، Woods KS، Mendonca BB، وآخرون (2003). "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction". J. Clin. Invest. ج. 112 ع. 8: 1192–201. DOI:10.1172/JCI18589. PMC:213489. PMID:14561704.
• Diaczok D، Romero C، Zunich J، وآخرون (2008). "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. ج. 93 ع. 11: 4351–9. DOI:10.1210/jc.2008-1189. PMC:2582563. PMID:18728160.
• Fintini D، Salvatori R، Salemi S، وآخرون (2006). "Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene". Horm. Res. ج. 65 ع. 2: 76–82. DOI:10.1159/000091033. PMID:16424673.
• Dateki S، Fukami M، Uematsu A، وآخرون (2010). "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. ج. 95 ع. 8: 4043–7. DOI:10.1210/jc.2010-0150. PMID:20534763.
• Cohen RN، Cohen LE، Botero D، وآخرون (2003). "Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia". J. Clin. Endocrinol. Metab. ج. 88 ع. 10: 4832–9. DOI:10.1210/jc.2002-021868. PMID:14557462.
• Sobrier ML، Maghnie M، Vié-Luton MP، وآخرون (2006). "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. ج. 91 ع. 11: 4528–36. DOI:10.1210/jc.2006-0426. PMID:16940453.
• Dasen JS، Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci. ج. 24: 327–55. DOI:10.1146/annurev.neuro.24.1.327. PMID:11283314.
• Tajima T، Hattorri T، Nakajima T، وآخرون (2003). "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. ج. 88 ع. 1: 45–50. DOI:10.1210/jc.2002-020818. PMID:12519827.
• Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
• Mellado C، Poduri A، Gleason D، وآخرون (2010). "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort". Am. J. Med. Genet. A. ج. 152A ع. 11: 2736–42. DOI:10.1002/ajmg.a.33684. PMC:2965295. PMID:20949537.
• Sajedi E، Gaston-Massuet C، Andoniadou CL، وآخرون (2008). "DNMT1 interacts with the developmental transcriptional repressor HESX1". Biochim. Biophys. Acta. ج. 1783 ع. 1: 131–43. DOI:10.1016/j.bbamcr.2007.08.010. PMC:2233781. PMID:17931718.
• McNay DE، Turton JP، Kelberman D، وآخرون (2007). "HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism". J. Clin. Endocrinol. Metab. ج. 92 ع. 2: 691–7. DOI:10.1210/jc.2006-1609. PMID:17148560.
• Kelberman D، Dattani MT (2007). "Genetics of septo-optic dysplasia". Pituitary. ج. 10 ع. 4: 393–407. DOI:10.1007/s11102-007-0055-5. PMID:17587179.
• Strausberg RL، Feingold EA، Grouse LH، وآخرون (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
• Ravasi T، Suzuki H، Cannistraci CV، وآخرون (2010). "An atlas of combinatorial transcriptional regulation in mouse and man". Cell. ج. 140 ع. 5: 744–52. DOI:10.1016/j.cell.2010.01.044. PMC:2836267. PMID:20211142.
• Dattani MT (2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. ج. 16 ع. 9: 1207–9. DOI:10.1515/jpem.2003.16.9.1207. PMID:14714741.