The DOI matches its Crossref record; 109 of the 111 references it cites were found in a registry or an index.
Prader–Willi syndrome and Angelman syndrome
Abstract
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most frequent genetic lesions in both disorders are a de novo deletion of the chromosomal region 15q11q13, uniparental disomy 15, an imprinting defect or, in the case of AS, a mutation of the UBE3A gene. Microdeletions in a small number of patients with PWS and AS have led to the identification of the chromosome 15 imprinting center (IC). The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain. © 2010 Wiley‐Liss, Inc.
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“Similarly, paternal-specific deletion of multiple imprinted, paternally expressed genes on the 15q11–q13 region results in Prader–Willi syndrome, whereas maternal deletion of a single, imprinted, maternally expressed gene encoding a ubiquitin-protein ligase (UBE3A) on this same region gives rise to the Angelman syndrome phenotype.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [197]
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Cites
UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Prader-Willi Syndrome: Consensus Diagnostic Criteria
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Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., & Lalande, M. (1989) · Nature · doi:10.1038/342281a0 · Cited by 878
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C
Kishore, S., & Stamm, S. (2005) · Science · doi:10.1126/science.1118265 · Cited by 699
Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M. S., Peters, S. U., Person, R., Garnica, A. D., Cheung, S. W., & Beaudet, A. L. (2008) · Nature Genetics · doi:10.1038/ng.158 · Cited by 672
Angelman syndrome 2005: Updated consensus for diagnostic criteria
Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H. M., Kyllerman, M., Laan, L., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31074 · Cited by 626
Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome
Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981) · New England Journal of Medicine · doi:10.1056/nejm198102053040604 · Cited by 622
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DNA methylation and its basic function
Moore, L. D., Le, T., & Fan, G. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2012.112 · Cited by 4,906
Non-coding RNAs in Development and Disease: Background, Mechanisms, and Therapeutic Approaches
Beermann, J., Piccoli, M.-T., Viereck, J., & Thum, T. (2016) · Physiological Reviews · doi:10.1152/physrev.00041.2015 · Cited by 1,743
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822bead0 · Cited by 1,452
Genomic imprinting: the emergence of an epigenetic paradigm
Ferguson-Smith, A. C. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3032 · Cited by 838
X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease
Lee, J. T., & Bartolomei, M. S. (2013) · Cell · doi:10.1016/j.cell.2013.02.016 · Cited by 674
Metadata
- Authors
- Buiting, K.
- Affiliations
- Essen University Hospital (DE)
- Corresponding author
- Buiting, Karin
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2010-08-15
- Volume
- 154C
- Issue
- 3
- Pages
- 365-376
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W1982946759
- Cited by
- 336
- References
- 111
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 11 · 2023: 14 · 2022: 18 · 2021: 26 · 2020: 17 · 2019: 25 · 2018: 18 · 2017: 27 · 2016: 17 · 2015: 19 · 2014: 37 · 2013: 33 · 2012: 38
- FWCI
- 3.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- Prader-Willi syndrome, Angelman syndrome, genomic imprinting, uniparental disomy 15, imprinting center, microdeletion, neurogenetic disorders
- MeSH terms
- Chromosome Deletion, Chromosomes, Human, Pair 15, Multigene Family, Humans, Prader-Willi Syndrome, Gene Expression, Angelman Syndrome, Genomic Imprinting, Uniparental Disomy, Ubiquitin-Protein Ligases
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