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https://hdl.handle.net/2440/131572
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dc.contributor.author | McRae, H.M. | - |
dc.contributor.author | Eccles, S. | - |
dc.contributor.author | Whitehead, L. | - |
dc.contributor.author | Alexander, W.S. | - |
dc.contributor.author | Gécz, J. | - |
dc.contributor.author | Thomas, T. | - |
dc.contributor.author | Voss, A.K. | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | Development (Cambridge), 2020; 147(21):1-12 | - |
dc.identifier.issn | 0950-1991 | - |
dc.identifier.issn | 1477-9129 | - |
dc.identifier.uri | http://hdl.handle.net/2440/131572 | - |
dc.description.abstract | Börjeson-Forssman-Lehmann syndrome (BFLS) is an intellectual disability and endocrine disorder caused by plant homeodomain finger 6 (PHF6) mutations. Individuals with BFLS present with short stature. We report a mouse model of BFLS, in which deletion of Phf6 causes a proportional reduction in body size compared with control mice. Growth hormone (GH) levels were reduced in the absence of PHF6. Phf6 - /Y animals displayed a reduction in the expression of the genes encoding GH-releasing hormone (GHRH) in the brain, GH in the pituitary gland and insulin-like growth factor 1 (IGF1) in the liver. Phf6 deletion specifically in the nervous system caused a proportional growth defect, indicating a neuroendocrine contribution to the phenotype. Loss of suppressor of cytokine signaling 2 (SOCS2), a negative regulator of growth hormone signaling partially rescued body size, supporting a reversible deficiency in GH signaling. These results demonstrate that PHF6 regulates the GHRH/GH/IGF1 axis. | - |
dc.description.statementofresponsibility | Helen M. McRae, Samantha Eccles, Lachlan Whitehead, Warren S. Alexander, Jozef Gécz, Tim Thomas and Anne K. Voss | - |
dc.language.iso | en | - |
dc.publisher | The Company of Biologists | - |
dc.rights | © 2020. Published by The Company of Biologists Ltd. | - |
dc.source.uri | http://dx.doi.org/10.1242/dev.187021 | - |
dc.subject | BFLS | - |
dc.subject | Börjeson-Forssman-Lehman Syndrome | - |
dc.subject | Failure to thrive | - |
dc.subject | Growth hormone | - |
dc.subject | Growth hormone releasing hormone | - |
dc.subject | IGF-1 | - |
dc.subject | Insulin-like growth factor 1 | - |
dc.subject | PHF6 | - |
dc.subject | Plant homeodomain finger protein 6 | - |
dc.subject | SOCS2 | - |
dc.subject | Suppressor of cytokine signaling 2 | - |
dc.title | Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1242/dev.187021 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1029481 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1161111 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1113577 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1091593 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1176789 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1058344 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1155224 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1081421 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1003435 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/575512 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gécz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 4 Medicine publications |
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