Title |
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
|
---|---|
Published in |
BMC Musculoskeletal Disorders, March 2014
|
DOI | 10.1186/1471-2474-15-107 |
Pubmed ID | |
Authors |
Syndia Lazarus, Aideen M McInerney-Leo, Fiona A McKenzie, Gareth Baynam, Stephanie Broley, Barbra V Cavan, Craig F Munns, Johannes Egbertus Hans Pruijs, David Sillence, Paulien A Terhal, Karena Pryce, Matthew A Brown, Andreas Zankl, Gethin Thomas, Emma L Duncan |
Abstract |
The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 42 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Unspecified | 7 | 17% |
Student > Ph. D. Student | 6 | 14% |
Student > Master | 5 | 12% |
Researcher | 5 | 12% |
Student > Doctoral Student | 4 | 10% |
Other | 6 | 14% |
Unknown | 9 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 26% |
Unspecified | 8 | 19% |
Biochemistry, Genetics and Molecular Biology | 5 | 12% |
Agricultural and Biological Sciences | 4 | 10% |
Immunology and Microbiology | 2 | 5% |
Other | 2 | 5% |
Unknown | 10 | 24% |