IFITM5 c.-14C>T Mutation Causing Type V Osteogenesis Imperfecta Decreases COL1A1 Expression and Increases Mineralization by Cultured Proband Osteoblasts

被引：0
|
作者：
Reich, Adi [1 ]
Bae, Alison S. [2 ]
Barnes, Aileen M. [2 ]
Cabral, Wayne A. [2 ]
Chitayat, David [3 ,4 ]
Marini, Joan [5 ]
机构：
[1] NIH, Bethesda, MD 20892 USA
[2] NICHD, NIH, BEMB, Bethesda, MD 20892 USA
[3] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[4] Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
[5] NICHHD, Bethesda, MD 20892 USA
来源：
JOURNAL OF BONE AND MINERAL RESEARCH | 2013年 / 28卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
SU0133
引用
收藏
页数：2
相关论文
共 17 条
  • [1] Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients
    Rauch, Frank
    Moffatt, Pierre
    Cheung, Moira
    Roughley, Peter
    Lalic, Liljana
    Lund, Allan M.
    Ramirez, Norman
    Fahiminiya, Somayyeh
    Majewski, Jacek
    Glorieux, Francis H.
    JOURNAL OF MEDICAL GENETICS, 2013, 50 (01) : 21 - 24
  • [2] Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
    Tyurin, Anton
    Merkuryeva, Elena
    Zaripova, Aliya
    Markova, Tatyana
    Nagornova, Tatyana
    Dantsev, Ilya
    Nadyrshina, Dina
    Zakharova, Ekaterina
    Khusainova, Rita
    BIOMEDICINES, 2022, 10 (10)
  • [3] A Transgenic Mouse Model of OI Type V Suggests the IFITM5 c.-14C>T Mutation Is Neomorphic
    Marom, Ronit
    Lietman, Caressa
    Jiang, Ming Ming
    Munivez, Elda
    Dawson, Brian
    Bertin, Terry
    Chen, Yuqin
    Weis, MaryAnn
    Eyre, David
    Lee, Brendan
    JOURNAL OF BONE AND MINERAL RESEARCH, 2014, 29 : S244 - S244
  • [4] Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation
    Hanagata, Nobutaka
    Takemura, Taro
    Kamimura, Keiko
    Koda, Toshiaki
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [5] An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutation
    Tan, Zhijia
    Shek, Hiu Tung
    Li, Zeluan
    Xia, Linjian
    He, Yanni
    Chen, Peikai
    Wong, Janus Siu Him
    Gao, Bo
    Chan, Danny
    To, Michael Kai Tsun
    JOURNAL OF BONE AND MINERAL RESEARCH, 2025,
  • [6] Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation
    Nobutaka Hanagata
    Taro Takemura
    Keiko Kamimura
    Toshiaki Koda
    Scientific Reports, 10
  • [7] 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, Syndia
    McInerney-Leo, Aideen M.
    McKenzie, Fiona A.
    Baynam, Gareth
    Broley, Stephanie
    Cavan, Barbra V.
    Munns, Craig F.
    Pruijs, Johannes Egbertus Hans
    Sillence, David
    Terhal, Paulien A.
    Pryce, Karena
    Brown, Matthew A.
    Zankl, Andreas
    Thomas, Gethin
    Duncan, Emma L.
    BMC MUSCULOSKELETAL DISORDERS, 2014, 15
  • [8] A Conditional Mouse Model of Osteogenesis Imperfecta Type V Suggests Ifitm5(c.-14C>T) Alters Progenitor Cell Fate
    Busse, Emily
    Song, I-Wen
    Ortinau, Laura
    Jeong, Youngjae
    Adeyeye, Mary
    Castellon, Alexis
    Dawson, Brian
    Park, Dongsu
    Marom, Ronit
    Lee, Brendan
    JOURNAL OF BONE AND MINERAL RESEARCH, 2024, 39 : 66 - 66
  • [9] 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
    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
    BMC Musculoskeletal Disorders, 15
  • [10] Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
    Tanner, Laura
    Vainio, Paula
    Sandell, Minna
    Laine, Jukka
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2017, 20 (05) : 455 - 459
12