ArticleClinical medicine insights. Case reports2013
Molecular characterization of a patient presumed to have prader-willi syndrome.
Article in Clinical medicine insights. Case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Non-coding RNAs and disease: the classical ncRNAs make a comeback.Biochemical Society transactions · 2016Review
- SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity.Gene · 2015Article
- The 5' untranslated region of the serotonin receptor 2C pre-mRNA generates miRNAs and is expressed in non-neuronal cells.Experimental brain research · 2013Article
- Valproic acid causes proteasomal degradation of DICER and influences miRNA expression.PloS one · 2013Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.
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