Concepedia

Ptch1 Mutations

PTCH1 Mutations is a genetic alteration in the PTCH1 gene, a tumor suppressor within the Hedgehog signaling pathway, that disrupts normal cell cycle regulation and is causally associated with the development of basal cell carcinoma.

290

Publications

16.4K

Citations

2.1K

Authors

688

Institutions

Publications per year

2017–2026

90

Variants

Ptch1 Gene Mutations

Parents

Publications

290

Inhibition of the Hedgehog Pathway in Advanced Basal-Cell Carcinoma

Daniel D. Von Hoff, Patricia LoRusso, Charles M. Rudin et al. · New England Journal of Medicine · 2009 · 1.1K citations · Full text

, , +17

Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449

Charles M. Rudin, Christine L. Hann, John Laterra et al. · New England Journal of Medicine · 2009 · 1K citations · Full text

, , +17

Integrated Genomics Identifies Five Medulloblastoma Subtypes with Distinct Genetic Profiles, Pathway Signatures and Clinicopathological Features

Marcel Kool, Jan Köster, Jens Bunt et al. · PLoS ONE · 2008 · 727 citations · Full text

, , +17

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

Ximena Bonilla, Laurent Parmentier, Bryan H. King et al. · Nature Genetics · 2016 · 495 citations

, , +17

Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Mats E. Nilsson · Proceedings of the National Academy of Sciences · 2000 · 380 citations

, , +17

1–5 of 290

Authors

2.1K

  1. TL
    Tiejun Li

    Peking University, China

    11 publications · 525 citations

    11

    h-index

  2. HH
    Heidi Hahn

    University of Göttingen, Germany

    11 publications · 415 citations

    10

    h-index

  3. TM
    Toshiyuki Miyashita

    National Center For Child Health and Development, Japan

    10 publications · 237 citations

    10

    h-index

  4. KF
    Katsunori Fujii

    Chiba University, Japan

    9 publications · 156 citations

    9

    h-index

  5. BJ
    Brandon J. Wainwright

    The University of Queensland, Australia

    8 publications · 480 citations

    8

    h-index

1–5 of 2.1K

Institutions

688

  1. Inserm

    Paris, France

    13 h-index

    16 publications

    622 citations

  2. Peking University

    Beijing, China

    13 h-index

    16 publications

    623 citations

  3. The University of Queensland

    Brisbane, Australia

    10 h-index

    10 publications

    623 citations

  4. University of Göttingen

    Göttingen, Germany

    10 h-index

    10 publications

    376 citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    10 h-index

    10 publications

    424 citations

  6. University of California, San Francisco

    San Francisco, United States

    10 h-index

    10 publications

    533 citations

  7. German Cancer Research Center

    Heidelberg, Germany

    9 h-index

    9 publications

    327 citations

  8. Heidelberg University

    Heidelberg, Germany

    9 h-index

    9 publications

    300 citations

1–8 of 688

Venues

  1. PLoS ONE

    15 publications · 1.1K citations

    15

    h-index

  2. Cancer Research

    10 publications · 560 citations

    10

    h-index

  3. PubMed

    Repository · 11 publications · 588 citations

    10

    h-index

  4. Proceedings of the National Academy of Sciences

    PNAS · 9 publications · 1.5K citations

    9

    h-index

  5. American Journal of Medical Genetics Part A

    6 publications · 306 citations

    6

    h-index

1–5