Concepedia

Ciliary Assembly Defects

Ciliary Assembly Defects is a structural pathophysiological condition characterized by the impaired biogenesis or organization of motile cilia due to genetic mutations affecting ciliary ultrastructure, leading to dysfunctional ciliary motility and associated clinical manifestations in primary ciliary dyskinesia.

128

Publications

10.4K

Citations

1K

Authors

420

Institutions

Publications per year

2017–2026

50

Parents

Publications

128

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

Zhaoxia Sun, Adam Amsterdam, Gregory J. Pazour et al. · Development · 2004 · 527 citations

, , +17

Cep97 and CP110 Suppress a Cilia Assembly Program

Alexander Spektor, William Y.W. Tsang, David Khoo et al. · Cell · 2007 · 487 citations · Full text

, , +5

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

Christopher J. Westlake, Lisa M. Baye, Maxence V. Nachury et al. · Proceedings of the National Academy of Sciences · 2011 · 431 citations · Full text

, , +17

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 394 citations · Full text

, , +10

Odf2-deficient mother centrioles lack distal/subdistal appendages and the ability to generate primary cilia

Hiroaki Ishikawa, Akiharu Kubo, Shöichiro Tsukita et al. · Nature Cell Biology · 2005 · 305 citations

, , +14

1–5 of 128

Authors

1K

  1. GJ
    Gregory J. Pazour

    University of Massachusetts Chan Medical School, United States

    6 publications · 1.1K citations

    7

    h-index

  2. NK
    Nicholas Katsanis

    Duke University, United States

    6 publications · 782 citations

    6

    h-index

  3. SM
    Stephen M. King

    UConn Health, United States

    6 publications · 212 citations

    6

    h-index

  4. FS
    Fowzan S. Alkuraya

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    5 publications · 750 citations

    5

    h-index

  5. EE
    Erica E. Davis

    Duke University, United States

    5 publications · 734 citations

    5

    h-index

1–5 of 1K

Institutions

420

  1. Inserm

    Paris, France

    15 h-index

    60 publications

    8.9K citations

  2. University of Massachusetts Chan Medical School

    Worcester, United States

    10 h-index

    23 publications

    2.9K citations

  3. University of Washington

    Seattle, United States

    9 h-index

    34 publications

    3.6K citations

  4. Université Paris Cité

    Paris, France

    8 h-index

    32 publications

    4.1K citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    8 h-index

    37 publications

    2.6K citations

  6. Harvard University

    Cambridge, United States

    8 h-index

    30 publications

    4K citations

  7. Howard Hughes Medical Institute

    Chevy Chase, United States

    7 h-index

    26 publications

    7K citations

  8. Assistance Publique – Hôpitaux de Paris

    Paris, France

    7 h-index

    23 publications

    4.1K citations

1–8 of 420

Venues

  1. Molecular Biology of the Cell

    MBC · 14 publications · 971 citations

    14

    h-index

  2. The American Journal of Human Genetics

    AJHG · 12 publications · 1.7K citations

    12

    h-index

  3. Journal of Cell Science

    5 publications · 297 citations

    6

    h-index

  4. PLoS Genetics

    6 publications · 194 citations

    6

    h-index

  5. The Journal of Cell Biology

    JCB · 5 publications · 571 citations

    5

    h-index

1–5