| Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes. | Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T, Gürsoy S, Acar S, Nalbantoğlu Ö, Özkaya B, Anıl Korkmaz H, Hazan F, Özkan B., Free PMC Article | 11/14/2023 |
| LHX4 Mutation is associated with Pituitary Deficits. | Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M. | 06/24/2017 |
| The study identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R. | Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C, Jullien N, Saveanu A, Caldagues E, Bergada I, Braslavsky D, Pfeifer M, Reynaud R, Herman JP, Barlier A, Brue T, Enjalbert A, Castinetti F., Free PMC Article | 02/6/2016 |
| A novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. | Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Gregory LC, Humayun KN, Turton JP, McCabe MJ, Rhodes SJ, Dattani MT., Free PMC Article | 08/29/2015 |
| we found that LHX4 upregulated beta-catenin levels in human colorectal cancer cell lines | Oncogenicity of LHX4 in colorectal cancer through Wnt/β-catenin/TCF4 cascade.
Cha N, Liu W, Yang N, Xie S, Gao Y, Chen X, Wang X, Ren J. | 01/10/2015 |
| 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 |
| This study is the first to describe, a gradual loss of ACTH in a patient carrying an LHX4 mutation. | Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T., Free PMC Article | 03/9/2013 |
| Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development. | Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, Günthard J, Schneider J, Huber AR, Zumsteg U, Miny P, Szinnai G. | 03/31/2012 |
| data indicate that LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis, suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications | Downregulation of alpha-fetoprotein expression by LHX4: a critical role in hepatocarcinogenesis.
Hung TM, Hu RH, Ho CM, Chiu YL, Lee JL, Jeng YM, Shih DT, Lee PH. | 01/21/2012 |
| 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 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesInvestigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. 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 |
| three new exonic LHX4 allelic variants with at least one being responsible for congenital hypopituitarism. | A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj AM, El Kholy M, Amin M, Enjalbert A, Barlier A, Brue T. | 01/21/2010 |
| endogenous LHX4 binds to the CGA promoter and that LHX4-mediated CGA activation is enhanced by the SS18-SSX protein | The C terminus of the synovial sarcoma-associated SSX proteins interacts with the LIM homeobox protein LHX4.
de Bruijn DR, van Dijk AH, Willemse MP, van Kessel AG. | 01/21/2010 |
| LHX4 mutations are a relatively rare cause of combined pituitary hormone deficiency. | Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ., Free PMC Article | 01/21/2010 |
| We conclude Sp1 directly regulates Lhx4 gene expression. | Specificity protein 1 (Sp1) plays role in regulating LIM homeodomain transcription factor Lhx4 gene expression.
Liu S, Luo H, Liu J, McNeilly AS, Cui S. | 01/21/2010 |
| LHX4 expression is transient, and, at 6 weeks of development, is stronger at the caudal than at the cervical level. | Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. | 01/21/2010 |
| Findings are consistent with the existence of LHX4-driven pathway leading to expression of GH through transcriptional activation of POU1F1. They argue against dominant-negative effect of mutant LHX4 proteins over normal LHX4. | Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects.
Machinis K, Amselem S. | 01/21/2010 |
| "Heterozygous splice site mutations within LHX4 are associated with combined pituitary hormone deficiency and isolated growth hormone deficiency... small sella turcica...persistent craniopharyngeal canal...ectopic posterior pituitary... " P. 207 | Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
Dattani MT. | 01/21/2010 |
| germline mutations; phenotype characterized by short stature and by pituitary, hindbrain, and skull abnormalities | Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S., Free PMC Article | 11/22/2001 |
| In mice, a similar protein plays a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. | Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.
Li H, Witte DP, Branford WW, Aronow BJ, Weinstein M, Kaur S, Wert S, Singh G, Schreiner CM, Whitsett JA., Free PMC Article | 05/2/2003 |