The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Open accessAbstract
Addition by Contraction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders in Western populations, affecting about 1 in 20,000 people. In most patients, the disorder is associated with contraction of a D4Z4 microsatellite repeat array on chromosome 4q, but this contraction can also occur in the absence of disease, so the underlying genetic mechanisms have remained elusive. Lemmers et al. (p. 1650 , published online 19 August; see the Perspective by Mahadevan ) now show that FSHD patients carry sequence variants that create a canonical polyadenylation signal for transcripts derived from DUX4 , a homeobox gene straddling the last D4Z4 repeat unit and the adjacent sequence. Addition of poly(A) stabilizes the DUX4 transcript, which is likely to be a contributing factor in the disease.
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Cites
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
Wijmenga, C., Hewitt, J. E., Sandkuijl, L. A., Clark, L. N., Wright, T. J., Dauwerse, H. G., Gruter, A.-M., Hofker, M. H., Moerer, P., Williamson, R., et al. (1992) · Nature Genetics · doi:10.1038/ng0992-26 · Cited by 691
Self-citationPatterns of Variant Polyadenylation Signal Usage in Human Genes
Beaudoing, E., Freier, S., Wyatt, J. R., Claverie, J.-M., & Gautheret, D. (2000) · Genome Research · doi:10.1101/gr.10.7.1001 · Cited by 673
Deutekom, J. C. T. V., Wljmenga, C., Tlenhoven, E. A. E. V., Gruter, A.-M., Hewitt, J. E., Padberg, G. W., Ommen, G.-J. B. V., Hofker, M. H., & Fronts, R. R. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2037 · Cited by 537
Self-citationAhn, S. H., Kim, M., & Buratowski, S. (2004) · Molecular Cell · doi:10.1016/s1097-2765(03)00492-1 · Cited by 516
Facioscapulohumeral muscular dystrophy
Tawil, R., & Van Der Maarel, S. M. (2006) · Muscle & Nerve · doi:10.1002/mus.20522 · Cited by 441
Self-citationHypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
van Overveld, P. G. M., Lemmers, R. J. F. L., Sandkuijl, L. A., Enthoven, L., Winokur, S. T., Bakels, F., Padberg, G. W., van Ommen, G.-J. B., Frants, R. R., & van der Maarel, S. M. (2003) · Nature Genetics · doi:10.1038/ng1262 · Cited by 421
Self-citationInappropriate Gene Activation in FSHD
Gabellini, D., Green, M. R., & Tupler, R. (2002) · Cell · doi:10.1016/s0092-8674(02)00826-7 · Cited by 400
Dixit, M., Ansseau, E., Tassin, A., Winokur, S., Shi, R., Qian, H., Sauvage, S., Mattéotti, C., van Acker, A. M., Leo, O., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708659104 · Cited by 387
Bosnakovski, D., Xu, Z., Ji Gang, E., Galindo, C. L., Liu, M., Simsek, T., Garner, H. R., Agha‐Mohammadi, S., Tassin, A., Coppée, F., et al. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.201 · Cited by 321
Lemmers, R. J. L. F., de Kievit, P., Sandkuijl, L., Padberg, G. W., van Ommen, G.-J. B., Frants, R. R., & van der Maarel, S. M. (2002) · Nature Genetics · doi:10.1038/ng999 · Cited by 304
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The complete sequence of a human genome
Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science · doi:10.1126/science.abj6987 · Cited by 3,136
Self-citationLINE-1 elements in structural variation and disease
Beck, C. R., Garcia-Perez, J. L., Badge, R. M., & Moran, J. V. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141802 · Cited by 615
Mechanisms regulating zygotic genome activation
Schulz, K. N., & Harrison, M. M. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-018-0087-x · Cited by 555
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
Snider, L., Geng, L. N., Lemmers, R. J. L. F., Kyba, M., Ware, C. B., Nelson, A. M., Tawil, R., Filippova, G. N., van der Maarel, S. M., Tapscott, S. J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001181 · Cited by 503
Self-citationGeng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., van der Maarel, S. M., Ruzzo, W. L., Gentleman, R. C., Tawil, R., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2011.11.013 · Cited by 458
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Metadata
- Authors
- Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., Straasheijm, K. R., Jan van Ommen, G., Padberg, G. W., Miller, D. G., Tapscott, S. J., Tawil, R., Frants, R. R., & van der Maarel, S. M.
- Venue
- Science
- Published
- 2010-09-24
- Volume
- 329
- Issue
- 5999
- Pages
- 1650-1653
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2026556066
- Cited by
- 788
- References
- 22
- FWCI
- 19.97
- Type
- journal article
- Language
- en
- Open access
- green
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- Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., Straasheijm, K. R., Jan van Ommen, G., Padberg, G. W., Miller, D. G., Tapscott, S. J., Tawil, R., Frants, R. R., & van der Maarel, S. M. (2010). A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. Science. https://doi.org/10.1126/science.1189044
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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.
