Concepedia

Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum is a rare autosomal recessive connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system, resulting in cutaneous xanthoma-like lesions, angioid streaks, and increased risk of vascular complications.

602

Publications

24.7K

Citations

1.9K

Authors

598

Institutions

Publications per year

2017–2026

70

Parents

Publications

602

Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations

, , +3

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text

, , +5

Pseudoxanthoma elasticum: Mutations in the <i>MRP6</i> gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Franziska Ringpfeil, Mark Lebwohl, Angela M. Christiano et al. · Proceedings of the National Academy of Sciences · 2000 · 396 citations

, , +13

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

, , +13

ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report

Robert S. Jansen, Suzanne Duijst, Sunny Mahakena et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2014 · 301 citations · Full text

, , +16

1–5 of 602

Authors

1.9K

  1. JU
    Jouni Uitto

    Thomas Jefferson University, United States

    43 publications · 2.6K citations

    30

    h-index

  2. LM
    Ludovic Martin

    Université d'Angers, France

    24 publications · 1.5K citations

    22

    h-index

  3. DH
    Doris Hendig

    Heart and Diabetes Center North Rhine-Westphalia, Germany

    30 publications · 1.2K citations

    22

    h-index

  4. SF
    Sharon F. Terry

    Genetic Alliance, United States

    23 publications · 2.4K citations

    21

    h-index

  5. OL
    Olivier Le Saux

    University of Hawaiʻi at Mānoa, United States

    21 publications · 1.9K citations

    21

    h-index

1–5 of 1.9K

Institutions

598

  1. University of Modena and Reggio Emilia

    Modena, Italy

    26 h-index

    122 publications

    8.1K citations

  2. Thomas Jefferson University

    Philadelphia, United States

    26 h-index

    116 publications

    5.6K citations

  3. Heart and Diabetes Center North Rhine-Westphalia

    Bad Oeynhausen, Germany

    25 h-index

    123 publications

    4.5K citations

  4. Université d'Angers

    Angers, France

    23 h-index

    101 publications

    3.9K citations

  5. Ghent University Hospital

    Ghent, Belgium

    21 h-index

    107 publications

    5.9K citations

  6. Jefferson Institute

    Washington, United States

    20 h-index

    74 publications

    5.1K citations

  7. University of Hawaiʻi at Mānoa

    Honolulu, United States

    18 h-index

    56 publications

    6.2K citations

  8. Inserm

    Paris, France

    18 h-index

    121 publications

    4.4K citations

1–8 of 598

Venues

  1. PubMed

    Repository · 50 publications · 1.6K citations

    23

    h-index

  2. Journal of Investigative Dermatology

    JID · 30 publications · 1.8K citations

    22

    h-index

  3. British Journal of Dermatology

    21 publications · 657 citations

    16

    h-index

  4. Journal of the American Academy of Dermatology

    JAAD · 20 publications · 771 citations

    16

    h-index

  5. Archives of Dermatology

    19 publications · 597 citations

    14

    h-index

1–5