title: Arthrogryposis as a Syndrome: Gene Ontology Analysis.
abstract: Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis.
authors: Departments of a Medical Genetics, University of British Columbia and BC Children's Hospital, Vancouver, B.C., Canada; Departments of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, B.C., Canada.
authors: Judith G
authors: JG
authors: Hall
authors: Translational Genomics Research Institute (TGen), Phoenix, Ariz., USA.
authors: Jeff
authors: J
authors: Kiefer
keywords: Arthrogryposis; ClueGO; Connective tissue; Cytoscape; Enrichment analysis; Fetal movement; Gene ontology; Molecular pathways; Multiple congenital contractures; Reactome