Ontology highlight
ABSTRACT:
SUBMITTER: Vakkilainen S
PROVIDER: S-EPMC6760211 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Vakkilainen Svetlana S Skoog Tiina T Einarsdottir Elisabet E Middleton Anna A Pekkinen Minna M Öhman Tiina T Katayama Shintaro S Krjutškov Kaarel K Kovanen Panu E PE Varjosalo Markku M Lindqvist Arne A Kere Juha J Mäkitie Outi O
Scientific reports 20190924 1
RMRP was the first non-coding nuclear RNA gene implicated in a disease. Its mutations cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failure, immunodeficiency, and a high risk for malignancies. This study aimed to gain further insight into the role of RNA Component of Mitochondrial RNA Processing Endoribonuclease (RMRP) in cellular physiology and disease pathogenesis. We combined transcriptome analysis with single-cell analysis using fibroblasts from ...[more]