Ontology highlight
ABSTRACT:
SUBMITTER: Taeubner J
PROVIDER: S-EPMC5839031 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Taeubner Julia J Brozou Triantafyllia T Qin Nan N Bartl Jasmin J Ginzel Sebastian S Schaper Joerg J Felsberg Joerg J Fulda Simone S Vokuhl Christian C Borkhardt Arndt A Kuhlen Michaela M
European journal of human genetics : EJHG 20171211 1
The sonic hedgehog (SHH) signaling pathway has been shown to play important roles in embryogenesis, cell proliferation as well as in cell differentiation. It is aberrantly activated in various common cancers in adults, but also in pediatric neoplasms, such as rhabdomyosarcoma (RMS) and atypical teratoid/rhabdoid tumors (AT/RTs). Dysregulation and germline mutation in PATCHED1 (PTCH1), a receptor for SHH, is responsible for the Gorlin Syndrome, a familial cancer predisposing syndrome including RM ...[more]