Concepedia

Primary Cilium Dysfunction

Primary Cilium Dysfunction is a pathophysiological mechanism characterized by impaired structure or function of the primary cilium, a solitary microtubule-based organelle that acts as a cellular signaling hub, leading to disrupted mechanosensory, chemosensory, and developmental signaling pathways implicated in the genesis and progression of renal cystic diseases.

239

Publications

16.5K

Citations

2K

Authors

643

Institutions

Publications per year

2017–2026

110

Parents

Publications

239

The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia

Bradley K. Yoder, Xiaoying Hou, Lisa M. Guay‐Woodford · Journal of the American Society of Nephrology · 2002 · 939 citations

, , +16

HEF1-Dependent Aurora A Activation Induces Disassembly of the Primary Cilium

Elena N. Pugacheva, Sandra A. Jablonski, Tiffiney R. Hartman et al. · Cell · 2007 · 893 citations · Full text

, , +7

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 642 citations · Full text

, , +14

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

Ming Ma, Xin Tian, Peter Igarashi et al. · Nature Genetics · 2013 · 360 citations

, , +16

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Monique Jacoby, James J. Cox, Stéphanie Gayral et al. · Nature Genetics · 2009 · 356 citations · Full text

, , +11

1–5 of 239

Authors

2K

  1. LM
    Lisa M. Guay‐Woodford

    University of Alabama at Birmingham, United States

    6 publications · 1.3K citations

    6

    h-index

  2. FH
    Friedhelm Hildebrandt

    Boston Children's Hospital, United States

    6 publications · 882 citations

    6

    h-index

  3. SS
    Sophie Saunier

    Inserm, France

    6 publications · 422 citations

    6

    h-index

  4. PI
    Peter Igarashi

    The University of Texas Southwestern Medical Center, United States

    5 publications · 945 citations

    5

    h-index

  5. BK
    Bradley K. Yoder

    University of Alabama at Birmingham, United States

    5 publications · 1.4K citations

    5

    h-index

1–5 of 2K

Institutions

643

  1. Inserm

    Paris, France

    17 h-index

    162 publications

    10.6K citations

  2. Université Paris Cité

    Paris, France

    15 h-index

    94 publications

    7.9K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    12 h-index

    51 publications

    2.8K citations

  4. National Institutes of Health

    Bethesda, United States

    10 h-index

    36 publications

    2.8K citations

  5. Stanford University

    Stanford, United States

    10 h-index

    42 publications

    3.1K citations

  6. The University of Texas Southwestern Medical Center

    Dallas, United States

    9 h-index

    14 publications

    1.9K citations

  7. Assistance Publique – Hôpitaux de Paris

    Paris, France

    9 h-index

    24 publications

    1.6K citations

  8. University College London

    London, United Kingdom

    9 h-index

    28 publications

    1.2K citations

1–8 of 643

Venues

  1. Human Molecular Genetics

    20 publications · 1.5K citations

    19

    h-index

  2. Scientific Reports

    10 publications · 354 citations

    10

    h-index

  3. Journal of the American Society of Nephrology

    10 publications · 1.6K citations

    10

    h-index

  4. PLoS Genetics

    8 publications · 608 citations

    8

    h-index

  5. Nature Communications

    8 publications · 534 citations

    8

    h-index

1–5