The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Open accessAbstract
Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate. Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Self-citation
Cited by
Writing, erasing and reading histone lysine methylations
Hyun, K., Jeon, J., Park, K., & Kim, J. (2017) · Experimental & Molecular Medicine · doi:10.1038/emm.2017.11 · Cited by 1,250
JmjC-domain-containing proteins and histone demethylation
Klose, R. J., Kallin, E. M., & Zhang, Y. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1945 · Cited by 1,290
Regulation of histone methylation by demethylimination and demethylation
Klose, R. J., & Zhang, Y. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2143 · Cited by 887
Dynamic Regulation of Histone Lysine Methylation by Demethylases
Shi, Y., & Whetstine, J. R. (2007) · Molecular Cell · doi:10.1016/j.molcel.2006.12.010 · Cited by 707
From neural development to cognition: unexpected roles for chromatin
Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544
Metadata
- Authors
- Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S., Schwartz, C. E., Lespinasse, J., Van Esch, H., Lacombe, D., Goizet, C., Phan-Dinh Tuy, F., van Bokhoven, H., Fryns, J.-P., Chelly, J., Ropers, H.-H., Moraine, C., Hamel, B. C. J., & Briault, S.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09-30
- Volume
- 42
- Issue
- 10
- Pages
- 780-786
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2128778630
- Cited by
- 213
- References
- 2
- FWCI
- 3.19
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S., Schwartz, C. E., Lespinasse, J., Van Esch, H., Lacombe, D., Goizet, C., Phan-Dinh Tuy, F., van Bokhoven, H., Fryns, J.-P., Chelly, J., Ropers, H.-H., Moraine, C., Hamel, B. C. J., & Briault, S. (2005). Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2004.029439
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
