| The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. | The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Maranda V, Gaumond MH, Moffatt P., Free PMC Article | 03/19/2022 |
| Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. | Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
Whyte MP, Aronson J, McAlister WH, Weinstein RS, Wenkert D, Clements KL, Gottesman GS, Madson KL, Stolina M, Bijanki VN, Plotkin H, Huskey M, Duan S, Mumm S. | 07/17/2021 |
| We suggest that all patients negative for COL1A1/2 pathogenic variants be tested for the presence of an IFITM5 pathogenic variant, even if they are not expressing typical osteogenesis imperfecta V symptoms. | IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
Zhytnik L, Maasalu K, Duy BH, Pashenko A, Khmyzov S, Reimann E, Prans E, Kõks S, Märtson A., Free PMC Article | 03/21/2020 |
| Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect. | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, Bueno AM, Martinez-Glez V, López-González V, Burnyte B, Utkus A, Lapunzina P, Ruiz-Perez VL. | 08/22/2015 |
| The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients. | Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.
Zhang Z, Li M, He JW, Fu WZ, Zhang CQ, Zhang ZL., Free PMC Article | 01/24/2015 |
| The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family. | 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.
Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL., Free PMC Article | 11/8/2014 |
| The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation. | Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH., Free PMC Article | 11/16/2013 |
| Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. | A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishimura G, Hasegawa T. | 10/19/2013 |
| IFITM5 mutation is associated with Osteogenesis imperfecta type V. | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ. | 10/19/2013 |
| study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable | Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.
Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. | 06/29/2013 |
| A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. | A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C., Free PMC Article | 10/27/2012 |
| A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. | A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW., Free PMC Article | 10/27/2012 |