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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK. McRae HM, et al. Among authors: thomas t. PLoS Genet. 2024 Oct 15;20(10):e1011428. doi: 10.1371/journal.pgen.1011428. eCollection 2024 Oct. PLoS Genet. 2024. PMID: 39405291 Free PMC article.
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia.
McRae HM, Garnham AL, Hu Y, Witkowski MT, Corbett MA, Dixon MP, May RE, Sheikh BN, Chiang W, Kueh AJ, Nguyen TA, Man K, Gloury R, Aubrey BJ, Policheni A, Di Rago L, Alexander WS, Gray DHD, Strasser A, Hawkins ED, Wilcox S, Gécz J, Kallies A, McCormack MP, Smyth GK, Voss AK, Thomas T. McRae HM, et al. Among authors: thomas t. Blood. 2019 Apr 18;133(16):1729-1741. doi: 10.1182/blood-2018-07-860726. Epub 2019 Feb 12. Blood. 2019. PMID: 30755422 Free PMC article.
Cortical Layer Inversion and Deregulation of Reelin Signaling in the Absence of SOCS6 and SOCS7.
Lawrenson ID, Krebs DL, Linossi EM, Zhang JG, McLennan TJ, Collin C, McRae HM, Kolesnik TB, Koh K, Britto JM, Kueh AJ, Sheikh BN, El-Saafin F, Nicola NA, Tan SS, Babon JJ, Nicholson SE, Alexander WS, Thomas T, Voss AK. Lawrenson ID, et al. Among authors: thomas t. Cereb Cortex. 2017 Jan 1;27(1):576-588. doi: 10.1093/cercor/bhv253. Cereb Cortex. 2017. PMID: 26503265
3,897 results