The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
The genomic basis of the Williams – Beuren syndrome
Open accessAbstract
The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5-1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (approximately 1.2 Mb) flanked by repetitive sequences--Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.
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Cites
Prevalence Estimation of Williams Syndrome
Strømme, P., Bjømstad, P. G., & Ramstad, K. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700406 · Cited by 779
II. Hypersociability in Williams Syndrome
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A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E. (2008) · Nature Genetics · doi:10.1038/ng.2007.40 · Cited by 320
Prevalence of psychiatric disorders in 4 to 16‐year‐olds with Williams syndrome
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WSTF–ISWI chromatin remodeling complex targets heterochromatic replication foci
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Imaging analysis reveals mechanistic differences between first- and second-phase insulin exocytosis
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Cited by
Pober, B. R. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0903074 · Cited by 848
The dynamic RNA modification 5‐methylcytosine and its emerging role as an epitranscriptomic mark
Trixl, L., & Lusser, A. (2019) · WIREs RNA · doi:10.1002/wrna.1510 · Cited by 363
Bachovchin, D. A., Ji, T., Li, W., Simon, G. M., Blankman, J. L., Adibekian, A., Hoover, H., Niessen, S., & Cravatt, B. F. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011663107 · Cited by 274
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.02.006 · Cited by 216
vonHoldt, B. M., Shuldiner, E., Koch, I. J., Kartzinel, R. Y., Hogan, A., Brubaker, L., Wanser, S., Stahler, D., Wynne, C. D. L., Ostrander, E. A., et al. (2017) · Science Advances · doi:10.1126/sciadv.1700398 · Cited by 186
Metadata
- Authors
- Schubert, C.
- Venue
- Cellular and Molecular Life Sciences
- Published
- 2008-11-26
- Volume
- 66
- Issue
- 7
- Pages
- 1178-1197
- ISSN
- 1420-682X (ISSN-L)
- 1420-9071
- OpenAlex
- W1979373680
- Cited by
- 236
- References
- 13
- FWCI
- 3.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
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