Arthrogryposis as a Syndrome: Gene Ontology Analysis

Molecular syndromology

Judith G. Hall¹ 

关键词: Arthrogryposis;    ClueGO;    Connective tissue;    Cytoscape;    Enrichment analysis;    Fetal movement;    Gene ontology;    Molecular pathways;    Multiple congenital contractures;    Reactome;   

DOI  :  10.1159/000446617

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

CC BY