Concepedia

Rab23 Variants

RAB23 Variants is a genetic construct representing specific allelic alterations in the RAB23 gene, a member of the RAS oncogene family, that disrupt normal GTPase-mediated signaling in cranial suture development and are causally associated with Carpenter syndrome, a rare autosomal recessive form of craniosynostosis characterized by multisuture fusion and limb anomalies.

3

Publications

389

Citations

36

Authors

27

Institutions

Publications per year

2017–2026

0

Parents

Publications

3

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee et al. · The American Journal of Human Genetics · 2007 · 270 citations · Full text

, , +17

A genome-wide association study reveals evidence of association with sarcoidosis at<i>6p12.1</i>

Sylvia Hofmann, Annegret Fischer, Andreas Till et al. · European Respiratory Journal · 2011 · 60 citations · Full text

, , +17

<i>RAB23</i> mutation in a large family from Comoros Islands with Carpenter syndrome

Jean‐Luc Alessandri, Nathalie Dagoneau, J.-M. Laville et al. · American Journal of Medical Genetics Part A · 2010 · 59 citations

, , +17

1–3 of 3

Authors

36

  1. DF
    Daniela Franco Bueno

    Universidade de São Paulo, Brazil

    1 publications · 270 citations

    1

    h-index

  2. AT
    Andreas Till

    Christian-Albrechts-Universität zu Kiel, Germany

    1 publications · 60 citations

    1

    h-index

  3. IM
    Irene M.J. Mathijssen

    Erasmus MC, Netherlands

    1 publications · 270 citations

    1

    h-index

  4. ES
    Elizabeth Sweeney

    University of Washington, United States

    1 publications · 270 citations

    1

    h-index

  5. SA
    Steven A. Wall

    University of Oxford, United Kingdom

    1 publications · 270 citations

    1

    h-index

1–5 of 36

Institutions

27

  1. John Radcliffe Hospital

    Oxford, United Kingdom

    1 h-index

    1 publications

    270 citations

  2. Liverpool Women's Hospital

    Liverpool, United Kingdom

    1 h-index

    1 publications

    270 citations

  3. Fédération Hospitalière de France

    Paris, France

    1 h-index

    1 publications

    59 citations

  4. Inserm

    Paris, France

    1 h-index

    2 publications

    118 citations

  5. MRC Weatherall Institute of Molecular Medicine

    Oxford, United Kingdom

    1 h-index

    3 publications

    810 citations

  6. Guy's Hospital

    London, United Kingdom

    1 h-index

    2 publications

    540 citations

  7. Centre Hospitalier Universitaire de La Réunion

    Saint-Denis, France

    1 h-index

    3 publications

    177 citations

  8. University of Oxford

    Oxford, United Kingdom

    1 h-index

    3 publications

    810 citations

1–8 of 27

Venues

  1. The American Journal of Human Genetics

    AJHG · 1 publications · 270 citations

    1

    h-index

  2. European Respiratory Journal

    1 publications · 60 citations

    1

    h-index

  3. American Journal of Medical Genetics Part A

    1 publications · 59 citations

    1

    h-index

1–3