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• W2053702963 abstract "American Journal of Medical Genetics Part AVolume 149A, Issue 12 p. 2874-2876 Research Letter Absence of SIX3 mutations in patients with congenital hypopituitarism† Carles Gaston-Massuet, Corresponding Author Carles Gaston-Massuet [email protected] Neural Development Unit, Institute of Child Health, University College London, London, UKNeural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH London, UK.Search for more papers by this authorDaniel Kelberman, Daniel Kelberman Developmental Endocrine Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this authorMehul Dattani, Mehul Dattani Developmental Endocrine Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this authorJuan Pedro Martinez-Barbera, Juan Pedro Martinez-Barbera Neural Development Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this author Carles Gaston-Massuet, Corresponding Author Carles Gaston-Massuet [email protected] Neural Development Unit, Institute of Child Health, University College London, London, UKNeural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH London, UK.Search for more papers by this authorDaniel Kelberman, Daniel Kelberman Developmental Endocrine Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this authorMehul Dattani, Mehul Dattani Developmental Endocrine Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this authorJuan Pedro Martinez-Barbera, Juan Pedro Martinez-Barbera Neural Development Unit, Institute of Child Health, University College London, London, UKSearch for more papers by this author First published: 16 November 2009 https://doi.org/10.1002/ajmg.a.33103Citations: 5 † How to Cite this Article: Gaston-Massuet C, Kelberman D, Dattani M, Martinez-Barbera JP. 2009. Absence of SIX3 mutations in patients with congenital hypopituitarism. Am J Med Genet Part A 149A:2874–2876. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Brinkmeier ML, Davis SW, Carninci P, MacDonald JW, Kawai J, Ghosh D, Hayashizaki Y, Lyons RH, Camper SA. 2009. Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches. Genomics 93: 449–460. Dattani MT. 2004. Novel insights into the aetiology and pathogenesis of hypopituitarism. Horm Res 62: 1–13. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. 1998. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19: 125–133. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. 2007. Holoprosencephaly. Orphanet J Rare Dis 2: 8. Gaston-Massuet C, Andoniadou CL, Signore M, Sajedi E, Bird S, Turner JM, Martinez-Barbera JP. 2008. Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development. Dev Biol 324: 322–333. Kelberman D, Dattani MT. 2006. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med 38: 560–577. Kelberman D, Dattani MT. 2007. Hypothalamic and pituitary development: Novel insights into the aetiology. Eur J Endocrinol 157: S3–S14. Lagutin OV, Zhu CC, Kobayashi D, Topczewki D, Shimamura K, Puelles L, Russell HR, McKinnon PJ, Solnica-Krezel L, Oliver G. 2003. Six3 repression of Wnt signaling in the anterior neuroectoderm is esential for vertebrate forebrain development. Genes Dev 17: 368–379. McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. 2007. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab 92: 691–697. Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M. 2003. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100: 13424–13429. Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT, Martinez-Barbera JP. 2008. Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Dis Model Mech 1: 241–254. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. 2001. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10: 39–45. Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. 1999. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22: 196–198. Zhu X, Gleiberman AS, Rosenfeld MG. 2007. Molecular physiology of pituitary development: Signaling and transcriptional networks. Physiol Rev 87: 933–963. Citing Literature Volume149A, Issue12December 2009Pages 2874-2876 ReferencesRelatedInformation" @default.
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