Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
By T. Sahoo, D. Gaudio, J. German, M. Shinawi, S. Peters, R. Person, Adolfo D Garnica, S. Cheung, A. Beaudet. Nature Genetics, 2008
600 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health
View Paper: https://www.semanticscholar.org/paper/7d2d18fa5928964a6a884fa6da45812e9220ac22
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In Genetics
In Molecular Biology
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Citations in the corpus
- Non‐coding RNAs: regulators of disease (2010, background): “A recent study has shown that a single microdeletion involving several small nucleolar RNA clusters (HBII-85 and HBII-52) results in PWS, suggesting that loss of small RNAs is a causal determinant of the disease [144].”
- Child health, developmental plasticity, and epigenetic programming. (2011, background): “Furthermore, microdeletions of the small nucleolar RNA clusters, HBII-85 and HBII-52, on chromosome 15q11-q13 result in PraderWilli syndrome, an imprinting disorder that is characterized by hyperphagia, hypogonadism, and cognitive impairment (124) (see Section III.”
- Non-coding RNAs in human disease (2011, background): “These disorders are caused by several genetic and epigenetic mechanisms involving the 15q11–q13 imprinted locus, which contains a cluster of tandemly arranged snoRNA”
- The Genetic Signatures of Noncoding RNAs (2009, background): “pathologies such as Prader-Willi syndrome [190,191], some that”
- Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (2017, unknown): “2-q12, loss of the entire paternal chromosome 15 with the presence of 2 maternal copies (uniparental maternal disomy), or an imprinting defect that can be sporadic or due to a mutation of the paternally derived imprinting control site of the 15q13 region (88).”
- PRADER–WILLI SYNDROME (2005, unknown): “More recently a microdeletion of the SNORD116 cluster has been reported in four individuals with many PWS features [Sahoo et al 2008, de Smith et al 2009, Buiting 2010, Duker et al 2010, Bieth et al 2015].”