PRIMARY CILIARY DYSKINESIA: THE ROLE OF CCDC40 IN CILIOGENESIS AND HETEROTAXY

被引:0
|
作者
Dinulos, M. B. Palko [1 ]
Flanagan, M. F. [1 ]
机构
[1] Dartmouth Hitchcock Med Ctr, Dept Pediat, Lebanon, NH 03766 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:914 / 915
页数:2
相关论文
共 50 条
  • [1] CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia
    Liu, Li
    Zhou, Kechong
    Song, Yuxuan
    Liu, Xiaoqiang
    MEDICINE, 2021, 100 (51) : E28275
  • [2] Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
    Blanchon, Sylvain
    Legendre, Marie
    Copin, Bruno
    Duquesnoy, Philippe
    Montantin, Guy
    Kott, Esther
    Dastot, Florence
    Jeanson, Ludovic
    Cachanado, Marine
    Rousseau, Alexandra
    Papon, Jean Francois
    Beydon, Nicole
    Brouard, Jacques
    Crestani, Bruno
    Deschildre, Antoine
    Desir, Julie
    Dollfus, Helene
    Leheup, Bruno
    Tamalet, Aline
    Thumerelle, Caroline
    Vojtek, Anne-Marie
    Escalier, Denise
    Coste, Andre
    de Blic, Jacques
    Clement, Annick
    Escudier, Estelle
    Amselem, Serge
    JOURNAL OF MEDICAL GENETICS, 2012, 49 (06) : 410 - 416
  • [3] Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia
    Zhao, Liqing
    Huang, Suqiu
    Wei, Wei
    Zhang, Bingyao
    Shi, Wenxiang
    Liang, Yongzhou
    Xu, Rang
    Wu, Yurong
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [4] CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature
    Sui, Weiguo
    Hou, Xianliang
    Che, Wenti
    Ou, Minglin
    Sun, Guoping
    Huang, Shengxing
    Liu, Fuhua
    Chen, Peng
    Wei, Xiaolian
    Dai, Yong
    CLINICAL RESPIRATORY JOURNAL, 2016, 10 (05): : 614 - 621
  • [5] mRNA therapy restores cilia function in a ccdc40 zebrafish mutant model for Primary Ciliary Dyskinesia
    Rasteiro, M.
    Lopes, S.
    MOLECULAR BIOLOGY OF THE CELL, 2023, 34 (02) : 93 - 94
  • [6] Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
    Antony, Dinu
    Becker-Heck, Anita
    Zariwala, Maimoona A.
    Schmidts, Miriam
    Onoufriadis, Alexandros
    Forouhan, Mitra
    Wilson, Robert
    Taylor-Cox, Theresa
    Dewar, Ann
    Jackson, Claire
    Goggin, Patricia
    Loges, Niki T.
    Olbrich, Heike
    Jaspers, Martine
    Jorissen, Mark
    Leigh, Margaret W.
    Wolf, Whitney E.
    Daniels, M. Leigh Anne
    Noone, Peadar G.
    Ferkol, Thomas W.
    Sagel, Scott D.
    Rosenfeld, Margaret
    Rutman, Andrew
    Dixit, Abhijit
    O'Callaghan, Christopher
    Lucas, Jane S.
    Hogg, Claire
    Scambler, Peter J.
    Emes, Richard D.
    Chung, Eddie M. K.
    Shoemark, Amelia
    Knowles, Michael R.
    Omran, Heymut
    Mitchison, Hannah M.
    HUMAN MUTATION, 2013, 34 (03) : 462 - 472
  • [7] Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella
    Xu, Yingjie
    Yang, Binyi
    Lei, Cheng
    Yang, Danhui
    Ding, Shuizi
    Lu, Chenyang
    Wang, Lin
    Guo, Ting
    Wang, Rongchun
    Luo, Hong
    PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2022, 15 : 341 - 350
  • [8] A rare case of primary ciliary dyskinesia with heterotaxy
    Quintela, Catia
    Meireles, Claudia
    Bettencourt, Maria Joao
    Ribeirinho, Augusto
    Bentes, Teresa
    Revista Portuguesa de Pneumologia, 2009, 15 (01) : 115 - 120
  • [9] Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog
    Clercx, C
    Peeters, D
    Beths, T
    McEntee, K
    Votion, D
    Snaps, F
    Henroteaux, M
    Jorissen, M
    JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 2000, 217 (11) : 1681 - 1685
  • [10] Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)
    Ahmed, Engi
    Sansac, Caroline
    Fieldes, Mathieu
    Bergougnoux, Anne
    Bourguignon, Chloe
    Mianne, Joffrey
    Arnould, Cecile
    Vachier, Isabelle
    Assou, Said
    Bourdin, Arnaud
    De Vos, John
    STEM CELL RESEARCH, 2018, 33 : 15 - 19