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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT. Akin L, et al. Among authors: robinson i. Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906446 Free PMC article.
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Woods KS, et al. Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800844 Free PMC article.
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. Kelberman D, et al. J Clin Endocrinol Metab. 2008 May;93(5):1865-73. doi: 10.1210/jc.2007-2337. Epub 2008 Feb 19. J Clin Endocrinol Metab. 2008. PMID: 18285410 Free PMC article.
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C, Kelberman D, GOSgene, Qasim W, Camper SA, Dever TE, Shah P, Robinson ICAF, Dattani MT. Gregory LC, et al. EBioMedicine. 2019 Apr;42:470-480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. EBioMedicine. 2019. PMID: 30878599 Free PMC article.
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Högler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT, Gaston-Massuet C. Gualtieri A, et al. Among authors: robinson icaf. Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. Nat Commun. 2021. PMID: 33795686 Free PMC article.
699 results