Reference : The undulated mouse and the development of the vertebral column. Is there a human PAX...
Scientific journals : Article
Life sciences : Genetics & genetic processes
The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?
Balling, Rudi mailto []
Clinical Dysmorphology
Yes (verified by ORBilu)
[en] Animals ; Chromosomes, Human, Pair 20 ; DNA-Binding Proteins/genetics ; Genetic Diseases, Inborn/genetics ; Humans ; Mice ; Mice, Mutant Strains/genetics ; Multigene Family ; Paired Box Transcription Factors ; Spine/abnormalities ; Syndrome ; Transcription Factors/genetics
[en] The mouse is a very useful system for the analysis of vertebral column development, particularly as a model for human skeletal diseases. A large number of mutant mouse strains exist with specific inherited skeletal defects. Undulated (un) is one of these mutants showing abnormalities of the vertebral bodies and intervertebral discs. The gene responsible for un has been identified as the Pax-1 gene, a member of the Pax-gene family. A human disease homologue to un is not known so far. In order to facilitate identification of a potential human PAX-1 disease, an overview is given describing what is currently known about the pathological and molecular analysis of un. It is hoped that this will help medical geneticists and dysmorphologists to identify a potential human disease, which corresponds to a mutation in the PAX-1 gene.

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