HESX1 Antibody

1. HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype PMID: 27000987
2. A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency PMID: 26111865
3. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
4. expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome. PMID: 23465708
5. Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150. PMID: 21761366
6. A c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein. PMID: 21325470
7. A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome. PMID: 21270112
8. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic growth hormone defiency, combined pituitary hormone deficiency and septo-optic dysplasia. PMID: 20694410
9. A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2. PMID: 20949537
10. Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. PMID: 20181723
11. HESX1 mutations in septo-optic dysplasia will lead to a detailed understanding of its function in the development of the forebrain and pituitary--review PMID: 12424431
12. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. The insertion of a heterozygous mutation (306/307ins AG) in the exon 2 of the HESX1. PMID: 12519827
13. novel HESX1 mutation in genomic nucleotide position 1684 (g.1684delG), which results in a mutant protein with increased DNA binding causing repression of PROP1 gene activity PMID: 14557462
14. HESX1, a paired-like homeotic gene, has recently been reported to be defective in two siblings with septo-optic dysplasia(SOD) p. 278 PMID: 14646405
15. Mutations within HESX1 have been described in association with both dominant and recessive forms of septo-optic dysplasia, combined pituitary hormone deficiency and isolated growth hormone deficiency p. 207 PMID: 14714741
16. index cases with autosomal-dominant isolated growth hormone deficiency and normal GH-1 gene had no HESX-1 mutations PMID: 16424673
17. Two novel HESX1 mutations in a so-far-undescribed disease phenotype characterized by a life-threatening neonatal condition associated with anterior pituitary aplasia, in the absence of ectopic posterior pituitary and optic nerve abnormalities. PMID: 16940453
18. Mutations within HESX1 are a rare cause of septooptic dysplasia and hypopituitarism PMID: 17148560
19. mutations in the key developmental gene HESX1 in patients with septo-optic dysplasia and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition PMID: 17587179
20. establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1 PMID: 17931718
21. A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency. PMID: 18728160
22. Despite the significant influence of pairs 19/30 and 31/42 on the stability of the HESX1, their effect on DNA binding was modest. PMID: 19561080

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HGNC: 4877

OMIM: 182230

KEGG: hsa:8820

STRING: 9606.ENSP00000295934

UniGene: Hs.171980