English Journal
- The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events.
- Todd MA1,2, Huh MS1, Picketts DJ1,2,3.
- European journal of human genetics : EJHG.Eur J Hum Genet.2016 May 11. doi: 10.1038/ejhg.2016.40. [Epub ahead of print]
- Ribosomal RNA synthesis occurs in the nucleolus and is a tightly regulated process that is targeted in some developmental diseases and hyperactivated in multiple cancers. Subcellular localization and immunoprecipitation coupled mass spectrometry demonstrated that a proportion of plant homeodomain (P
- PMID 27165002
- 1H, 13C and 15N resonance assignments and secondary structure of the human PHF6-ePHD1 domain.
- Bao Y1, Liu Z1, Zhang J1, Wu J2, Shi Y3.
- Biomolecular NMR assignments.Biomol NMR Assign.2016 Apr;10(1):1-4. doi: 10.1007/s12104-015-9627-x. Epub 2015 Aug 19.
- The plant homeodomain (PHD) finger 6 (PHF6) is a multidomain protein that comprises four nuclear localization signals and two extended PHD zinc finger domains (ePHD), suggesting that the PHD domains of PHF6 may have different functions compared with other PHD domains. And the PHF6 was first identifi
- PMID 26286319
- The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
- Ernst A1, Le VQ1, Højland AT2, Pedersen IS1, Sørensen TH3, Bjerregaard LL3, Lyngbye TJ4, Gammelager NM2, Krarup H1, Petersen MB5.
- Molecular syndromology.Mol Syndromol.2015 Oct;6(4):181-6. doi: 10.1159/000441047. Epub 2015 Sep 29.
- The family presented with 4 boys, 2 sets of brothers, with unexplained intellectual disability. Numerous analyses had been conducted over more than a decade, without reaching a final clinical or molecular diagnosis. According to the pedigree, an X-linked inheritance pattern was strongly suspected. W
- PMID 26648834
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