Ontology highlight
ABSTRACT:
SUBMITTER: Falaleeva M
PROVIDER: S-EPMC3656643 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Falaleeva Marina M Sulsona Carlos R CR Zielke Horst R HR Currey Kathleen M KM de la Grange Pierre P Aslanzadeh Vahid V Driscoll Daniel J DJ Stamm Stefan S
Clinical medicine insights. Case reports 20130505
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 suppo ...[more]