Concepedia

Col7a1 Mutations

COL7A1 Mutations is a genetic alteration in the COL7A1 gene, which encodes type VII collagen and, when pathogenic, is distinguished by its causal role in the dermal-epidermal junction instability characteristic of dystrophic epidermolysis bullosa.

231

Publications

12.4K

Citations

1.1K

Authors

360

Institutions

Publications per year

2017–2026

55

Parents

Publications

231

Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

John E. Wagner, Akemi Ishida‐Yamamoto, John A. McGrath et al. · New England Journal of Medicine · 2010 · 374 citations · Full text

, , +17

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

Roslyn Varki, Sara Sadowski, Jouni Uitto et al. · Journal of Medical Genetics · 2006 · 279 citations · Full text

, , +13

TALEN-based Gene Correction for Epidermolysis Bullosa

Mark J. Osborn, Colby G. Starker, Amber McElroy et al. · Molecular Therapy · 2013 · 257 citations · Full text

, , +15

Collagen VII plays a dual role in wound healing

Alexander Nyström, Daniela Velati, Venugopal R. Mittapalli et al. · Journal of Clinical Investigation · 2013 · 241 citations · Full text

, , +17

Generation of 3D Skin Equivalents Fully Reconstituted from Human Induced Pluripotent Stem Cells (iPSCs)

Munenari Itoh, Noriko Umegaki‐Arao, Zongyou Guo et al. · PLoS ONE · 2013 · 235 citations · Full text

, , +17

1–5 of 231

Authors

1.1K

  1. JA
    John A. McGrath

    St Thomas' Hospital, United Kingdom

    40 publications · 2.1K citations

    24

    h-index

  2. JU
    Jouni Uitto

    Thomas Jefferson University, United States

    31 publications · 2.3K citations

    23

    h-index

  3. AM
    Angela M. Christiano

    Columbia University, United States

    27 publications · 1.7K citations

    22

    h-index

  4. LB
    Leena Bruckner‐Tuderman

    University Medical Center Freiburg, Germany

    20 publications · 1.2K citations

    18

    h-index

  5. JB
    Johann Bauer

    Paracelsus Medical University, Austria

    15 publications · 777 citations

    15

    h-index

1–5 of 1.1K

Institutions

360

  1. Thomas Jefferson University

    Philadelphia, United States

    25 h-index

    109 publications

    9.6K citations

  2. Jefferson Institute

    Washington, United States

    23 h-index

    94 publications

    7.8K citations

  3. Jefferson College

    Hillsboro, United States

    20 h-index

    34 publications

    2.4K citations

  4. University Medical Center Freiburg

    Freiburg im Breisgau, Germany

    16 h-index

    59 publications

    4.4K citations

  5. King's College London

    London, United Kingdom

    16 h-index

    80 publications

    5K citations

  6. St Thomas' Hospital

    London, United Kingdom

    15 h-index

    89 publications

    3.6K citations

  7. Hospital Universitario Fundación Jiménez Díaz

    Madrid, Spain

    15 h-index

    78 publications

    3.7K citations

  8. EB House Austria

    Salzburg, Austria

    15 h-index

    88 publications

    3.8K citations

1–8 of 360

Venues

  1. Journal of Investigative Dermatology

    JID · 29 publications · 1.5K citations

    25

    h-index

  2. British Journal of Dermatology

    22 publications · 768 citations

    16

    h-index

  3. Molecular Therapy

    11 publications · 1.1K citations

    11

    h-index

  4. Human Mutation

    10 publications · 604 citations

    10

    h-index

  5. Clinical and Experimental Dermatology

    10 publications · 169 citations

    10

    h-index

1–5