Ontology highlight
ABSTRACT:
SUBMITTER: Alhopuro P
PROVIDER: S-EPMC2291082 | biostudies-literature | 2008 Apr
REPOSITORIES: biostudies-literature
Alhopuro Pia P Phichith Denis D Tuupanen Sari S Sammalkorpi Heli H Nybondas Miranda M Saharinen Juha J Robinson James P JP Robinson James P JP Yang Zhaohui Z Chen Li-Qiong LQ Orntoft Torben T Mecklin Jukka-Pekka JP Järvinen Heikki H Eng Charis C Moeslein Gabriela G Shibata Darryl D Houlston Richard S RS Lucassen Anneke A Tomlinson Ian P M IP Launonen Virpi V Ristimäki Ari A Arango Diego D Karhu Auli A Sweeney H Lee HL Aaltonen Lauri A LA
Proceedings of the National Academy of Sciences of the United States of America 20080407 14
A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops intestinal abnormalities reminiscent of human Peutz-Jeghers syndrome (PJS) and juvenile polyposis (JP). To examine the role of MYH11 in human intestinal neoplasia, we searched for MYH11 mutations in patients with colorectal cancer (CRC), PJS and JP. We found somatic protein-elongating frameshift mutations in ...[more]