| Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. | Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Alesi V, Dentici ML, Genovese S, Loddo S, Bellacchio E, Orlando V, Di Tommaso S, Catino G, Calacci C, Calvieri G, Pompili D, Ubertini G, Dallapiccola B, Capolino R, Novelli A., Free PMC Article | 04/13/2021 |
| Study did not identify HESX1 and LHX3 mutations by Sanger in brazilian patients with combined pituitary hormone deficiency | Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR. | 07/7/2018 |
| HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype | HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR., Free PMC Article | 09/23/2017 |
| 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 | Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
Avbelj Stefanija M, Kotnik P, Bratanič N, Žerjav Tanšek M, Bertok S, Bratina N, Battelino T, Trebušak Podkrajšek K. | 07/2/2016 |
| investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey | Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Baş F, Uyguner ZO, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Şiklar Z, Öcal G, Darcan Ş, Gökşen D, Topaloğlu AK, Yüksel B, Özbek MN, Ercan O, Evliyaoğlu O, Çetinkaya S, Şen Y, Atabek E, Toksoy G, Aydin BK, Bundak R. | 05/28/2016 |
| Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). | Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM. | 01/11/2014 |
| expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome. | Identification of HESX1 mutations in Kallmann syndrome.
Newbern K, Natrajan N, Kim HG, Chorich LP, Halvorson LM, Cameron RS, Layman LC., Free PMC Article | 07/27/2013 |
| Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150. | CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.
Campanini ML, Colli LM, Paixao BM, Cabral TP, Amaral FC, Machado HR, Neder LS, Saggioro F, Moreira AC, Antonini SR, de Castro M., Free PMC Article | 12/24/2011 |
| 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. | A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
Vivenza D, Godi M, Faienza MF, Mellone S, Moia S, Rapa A, Petri A, Bellone S, Riccomagno S, Cavallo L, Giordano M, Bona G. | 06/25/2011 |
| A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome. | Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
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. | 06/18/2011 |
| 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. | Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Cruz JB, Nunes VS, Clara SA, Perone D, Kopp P, Nogueira CR. | 04/9/2011 |
| A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2. | Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA., Free PMC Article | 02/5/2011 |
| Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. | Corepressors TLE1 and TLE3 interact with HESX1 and PROP1.
Carvalho LR, Brinkmeier ML, Castinetti F, Ellsworth BS, Camper SA., Free PMC Article | 07/19/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | 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.
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. | 06/30/2010 |
| Despite the significant influence of pairs 19/30 and 31/42 on the stability of the HESX1, their effect on DNA binding was modest. | Role of conserved salt bridges in homeodomain stability and DNA binding.
Torrado M, Revuelta J, Gonzalez C, Corzana F, Bastida A, Asensio JL., Free PMC Article | 01/21/2010 |
| 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. | A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
Diaczok D, Romero C, Zunich J, Marshall I, Radovick S., Free PMC Article | 01/21/2010 |
| establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1 | DNMT1 interacts with the developmental transcriptional repressor HESX1.
Sajedi E, Gaston-Massuet C, Andoniadou CL, Signore M, Hurd PJ, Dattani M, Martinez-Barbera JP., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. | 03/13/2008 |
| 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 | Genetics of septo-optic dysplasia.
Kelberman D, Dattani MT. | 01/21/2010 |
| 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. | Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K. | 01/21/2010 |
| "HESX1, a paired-like homeotic gene, has recently been reported to be defective in two siblings with septo-optic dysplasia(SOD)" p. 278 | Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.
Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW. | 01/21/2010 |
| 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 | Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.
Cohen RN, Cohen LE, Botero D, Yu C, Sagar A, Jurkiewicz M, Radovick S. | 01/21/2010 |
| 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. | Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S. | 01/21/2010 |
| "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 | Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
Dattani MT. | 01/21/2010 |
| index cases with autosomal-dominant isolated growth hormone deficiency and normal GH-1 gene had no HESX-1 mutations | Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.
Fintini D, Salvatori R, Salemi S, Otten B, Ubertini G, Cambiaso P, Mullis PE. | 01/21/2010 |