Ontology highlight
ABSTRACT:
SUBMITTER: Molinari E
PROVIDER: S-EPMC6244279 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Molinari Elisa E Decker Eva E Mabillard Holly H Tellez James J Srivastava Shalabh S Raman Shreya S Wood Katrina K Kempf Caroline C Alkanderi Sumaya S Ramsbottom Simon A SA Miles Colin G CG Johnson Colin A CA Hildebrandt Friedhelm F Bergmann Carsten C Sayer John A JA
European journal of human genetics : EJHG 20180712 12
The majority of multi-exon genes undergo alternative splicing to produce different mRNA transcripts and this may occur in a tissue-specific manner. Assessment of mRNA transcripts isolated from blood samples may sometimes be unhelpful in determining the affect on function of putative splice-site variants affecting kidney-specific mRNA transcripts. Here we present data demonstrating the power of using human urine-derived renal epithelial cells (hUREC) as a source of kidney RNA. We report clinical ...[more]