The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Open accessAbstract
Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS, such mutations have been identified in 56%-76% of affected individuals, suggesting that there may be additional genes associated with KS. Here, we describe three KS individuals with de novo partial or complete deletions of an X chromosome gene, KDM6A, that encodes a histone demethylase that interacts with MLL2. Although KDM6A escapes X inactivation, we found a skewed X inactivation pattern, in which the deleted X chromosome was inactivated in the majority of the cells. This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
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Cites
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
Edgar, R. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.207 · Cited by 13,288
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Ng, S. B., Bigham, A. W., Buckingham, K. J., Hannibal, M. C., McMillin, M. J., Gildersleeve, H. I., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,347
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
van Haaften, G., Dalgliesh, G. L., Davies, H., Chen, L., Bignell, G., Greenman, C., Edkins, S., Hardy, C., O'Meara, S., Teague, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.349 · Cited by 784
A histone H3 lysine 27 demethylase regulates animal posterior development
Lan, F., Bayliss, P. E., Rinn, J. L., Whetstine, J. R., Wang, J. K., Chen, S., Iwase, S., Alpatov, R., Issaeva, I., Canaani, E., et al. (2007) · Nature · doi:10.1038/nature06192 · Cited by 783
Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases
Hong, S., Cho, Y.-W., Yu, L.-R., Yu, H., Veenstra, T. D., & Ge, K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707292104 · Cited by 698
Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T., & Kajii, T. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80255-7 · Cited by 543
Kuroki, Y., Suzuki, Y., Chyo, H., Hata, A., & Matsui, I. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80256-9 · Cited by 461
Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients
Niikawa, N., Kuroki, Y., Kajii, T., Matsuura, N., Ishikiriyama, S., Tonoki, H., Ishikawa, N., Yamada, Y., Fujita, M., Umemoto, H., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320310312 · Cited by 456
Miller, S. A., Mohn, S. E., & Weinmann, A. S. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.10.028 · Cited by 364
The UTX gene escapes X inactivation in mice and humans
Greenfield, A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.4.737 · Cited by 275
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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA · doi:10.1001/jama.2014.14601 · Cited by 1,360
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934
The interplay between DNA and histone methylation: molecular mechanisms and disease implications
Li, Y., Chen, X., & Lu, C. (2021) · The EMBO Reports · doi:10.15252/embr.202051803 · Cited by 223
A second X chromosome contributes to resilience in a mouse model of Alzheimer’s disease
Davis, E. J., Broestl, L., Abdulai-Saiku, S., Worden, K., Bonham, L. W., Miñones-Moyano, E., Moreno, A. J., Wang, D., Chang, K., Williams, G., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz5677 · Cited by 176
Widespread DNA hypomethylation and differential gene expression in Turner syndrome
Trolle, C., Nielsen, M. M., Skakkebæk, A., Lamy, P., Vang, S., Hedegaard, J., Nordentoft, I., Ørntoft, T. F., Pedersen, J. S., & Gravholt, C. H. (2016) · Scientific Reports · doi:10.1038/srep34220 · Cited by 149
Metadata
- Authors
- Lederer, D., Grisart, B., Digilio, M. C., Benoit, V., Crespin, M., Ghariani, S. C., Maystadt, I., Dallapiccola, B., & Verellen-Dumoulin, C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-01
- Volume
- 90
- Issue
- 1
- Pages
- 119-124
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2072587374
- Cited by
- 373
- References
- 28
- FWCI
- 13.15
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lederer, D., Grisart, B., Digilio, M. C., Benoit, V., Crespin, M., Ghariani, S. C., Maystadt, I., Dallapiccola, B., & Verellen-Dumoulin, C. (2012). Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2011.11.021
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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