Concepedia

Darier Disease

Darier Disease is a rare autosomal dominant genodermatosis characterized by abnormal keratinization and defective desmosomal adhesion, leading to chronic mucocutaneous lesions, palmar pits, nail abnormalities, and distinctive histopathological findings of focal acantholysis and dyskeratosis.

335

Publications

11.9K

Citations

1.2K

Authors

392

Institutions

Publications per year

2017–2026

33

Variants

Darier-white DiseaseKeratosis Follicularis

Parents

Publications

335

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter et al. · Nature Genetics · 1999 · 734 citations

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Acanthosis nigricans

Robert A. Schwartz · Journal of the American Academy of Dermatology · 1994 · 281 citations

, , +12

ACANTHOSIS NIGRICANS

J. Price Brown, R.K. Winkelmann · Medicine · 1968 · 248 citations

, , +12

Transient Acantholytic Dermatosis

Ralph W. Grover · Archives of Dermatology · 1970 · 206 citations

, , +13

Spectrum of novel ATP2A2 mutations in patients with Darier's disease

Anavaj Sakuntabhai, Susan Burge, S. Monk et al. · Human Molecular Genetics · 1999 · 166 citations · Full text

, , +14

1–5 of 335

Authors

1.2K

  1. SB
    Susan Burge

    Slade Hospital, United Kingdom

    17 publications · 1.9K citations

    16

    h-index

  2. AH
    Alain Hovnanian

    Inserm, France

    9 publications · 1.5K citations

    9

    h-index

  3. NC
    Nick Craddock

    Cardiff University, United Kingdom

    6 publications · 986 citations

    6

    h-index

  4. CM
    C.S. Munro

    Southern General Hospital, United Kingdom

    6 publications · 530 citations

    6

    h-index

  5. MC
    Martin Cederlöf

    Karolinska Institutet, Sweden

    6 publications · 161 citations

    6

    h-index

1–5 of 1.2K

Institutions

392

  1. University of Oxford

    Oxford, United Kingdom

    8 h-index

    22 publications

    5.3K citations

  2. Inserm

    Paris, France

    8 h-index

    14 publications

    946 citations

  3. Southern General Hospital

    Glasgow, United Kingdom

    8 h-index

    18 publications

    1.3K citations

  4. Karolinska Institutet

    Stockholm, Sweden

    8 h-index

    42 publications

    1.2K citations

  5. Churchill Hospital

    Oxford, United Kingdom

    8 h-index

    12 publications

    1.5K citations

  6. Centre for Human Genetics

    Oxford, United Kingdom

    7 h-index

    18 publications

    4.9K citations

  7. University of Wales

    Cardiff, United Kingdom

    7 h-index

    25 publications

    3.9K citations

  8. Karolinska University Hospital

    Stockholm, Sweden

    7 h-index

    13 publications

    321 citations

1–8 of 392

Venues

  1. Archives of Dermatology

    45 publications · 1.8K citations

    25

    h-index

  2. British Journal of Dermatology

    39 publications · 1.6K citations

    25

    h-index

  3. PubMed

    Repository · 29 publications · 759 citations

    17

    h-index

  4. Journal of Investigative Dermatology

    JID · 15 publications · 837 citations

    14

    h-index

  5. Journal of Cutaneous Pathology

    JCP · 15 publications · 386 citations

    13

    h-index

1–5