Ontology highlight
ABSTRACT:
SUBMITTER: Thiele F
PROVIDER: S-EPMC3406754 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Thiele Frank F Cohrs Christian M CM Flor Armando A Lisse Thomas S TS Przemeck Gerhard K H GK Horsch Marion M Schrewe Anja A Gailus-Durner Valerie V Ivandic Boris B Katus Hugo A HA Wurst Wolfgang W Reisenberg Catherine C Chaney Hollis H Fuchs Helmut H Hans Wolfgang W Beckers Johannes J Marini Joan C JC Hrabé de Angelis Martin M
Human molecular genetics 20120515 16
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with skeletal dysplasia of varying severity, predominantly caused by mutations in the collagen I genes (COL1A1/COL1A2). Extraskeletal findings such as cardiac and pulmonary complications are generally considered to be significant secondary features. Aga2, a murine model for human OI, was systemically analyzed in the German Mouse Clinic by means of in vivo and in vitro examinations of the cardiopulmonary system, to identify n ...[more]