TY - JOUR AU - Boddu, R AU - Yang, CZ AU - O'Connor, AK AU - Hendrickson, RC AU - Boone, B AU - Cui, XQ AU - García González , Miguel Ángel AU - Igarashi, P AU - Onuchic, LF AU - Germino, GG AU - Guay-Woodford, LM PY - 2014 SN - 0946-2716 UR - http://hdl.handle.net/20.500.11940/7258 AB - Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures. The mouse protein product,... LA - eng KW - Alternative Splicing KW - Animals KW - Exons KW - Genetic Variation KW - Humans KW - Kidney KW - Mice, Inbred DBA KW - Mutagenesis, Site-Directed KW - RNA, Messenger KW - Receptors, Cell Surface KW - Reverse Transcriptase Polymerase Chain Reaction KW - Sequence Analysis, RNA KW - Transcription, Genetic TI - Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 DO - 10.1007/s00109-014-1185-7 T2 - JOURNAL OF MOLECULAR MEDICINE-JMM M2 - 1045 VL - 92 ER -