Literature DB >> 23813632

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Masaki Takagi1, Shuhei Sato, Keiichi Hara, Chihiro Tani, Osamu Miyazaki, Gen Nishimura, Tomonobu Hasegawa.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23813632     DOI： 10.1002/ajmg.a.36025

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  8 in total

Review 1.  IFITM5 mutations and osteogenesis imperfecta.

Authors:  Nobutaka Hanagata
Journal:  J Bone Miner Metab       Date:  2015-06-02       Impact factor: 2.626

2.  A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.

Authors:  Caressa D Lietman; Ronit Marom; Elda Munivez; Terry K Bertin; Ming-Ming Jiang; Yuqing Chen; Brian Dawson; Mary Ann Weis; David Eyre; Brendan Lee
Journal:  J Bone Miner Res       Date:  2015-03       Impact factor: 6.741

3.  PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.

Authors:  Jamie Fitzgerald; Paul Holden; Hollis Wright; Beth Wilmot; Abigail Hata; Robert D Steiner; Don Basel
Journal:  J Rare Disord       Date:  2013-12

4.  Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

Authors:  Evelise Brizola; Eduardo P Mattos; Jessica Ferrari; Patricia O A Freire; Raquel Germer; Juan C Llerena; Têmis M Félix
Journal:  Mol Syndromol       Date:  2015-09-03

5.  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.

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
Journal:  BMC Musculoskelet Disord       Date:  2014-03-27       Impact factor: 2.362

Review 6.  IFITMs restrict the replication of multiple pathogenic viruses.

Authors:  Jill M Perreira; Christopher R Chin; Eric M Feeley; Abraham L Brass
Journal:  J Mol Biol       Date:  2013-09-25       Impact factor: 5.469

7.  Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.

Authors:  Nobutaka Hanagata; Taro Takemura; Keiko Kamimura; Toshiaki Koda
Journal:  Sci Rep       Date:  2020-12-03       Impact factor: 4.379

8.  Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Authors:  Dina Nadyrshina; Aliya Zaripova; Anton Tyurin; Ildar Minniakhmetov; Ekaterina Zakharova; Rita Khusainova
Journal:  Genes (Basel)       Date:  2022-01-10       Impact factor: 4.096
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.