Concepedia

Xeroderma Pigmentosum

Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defects in nucleotide excision repair, leading to extreme sensitivity to ultraviolet radiation and a markedly increased risk of skin cancer.

1.9K

Publications

114.7K

Citations

6K

Authors

1.5K

Institutions

Publications per year

2017–2026

125

Parents

Publications

1.9K

Defective Repair Replication of DNA in Xeroderma Pigmentosum

James E. Cleaver · Nature · 1968 · 1.7K citations

, , +13

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η

Chikahide Masutani, Rika Kusumoto, Ayumi Yamada et al. · Nature · 1999 · 1.3K citations

, , +6

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases

Kenneth H. Kraemer · Archives of Dermatology · 1987 · 1.1K citations

, , +13

Xeroderma Pigmentosum Group C Protein Complex Is the Initiator of Global Genome Nucleotide Excision Repair

Kaoru Sugasawa, Jessica M.Y. Ng, Chikahide Masutani et al. · Molecular Cell · 1998 · 888 citations · Full text

, , +12

Xeroderma Pigmentosum

Kenneth H. Kraemer · Archives of Dermatology · 1987 · 803 citations

, , +6

1–5 of 1.9K

Authors

6K

  1. KH
    Kenneth H. Kraemer

    National Cancer Institute, United States

    77 publications · 8.7K citations

    42

    h-index

  2. JH
    Jan H.J. Hoeijmakers

    Erasmus University Rotterdam, Netherlands

    55 publications · 6K citations

    38

    h-index

  3. AS
    Alain Sarasin

    Centre National de la Recherche Scientifique, France

    66 publications · 3.9K citations

    36

    h-index

  4. JE
    James E. Cleaver

    University of California, San Francisco, United States

    65 publications · 6.1K citations

    35

    h-index

  5. AR
    Alan R. Lehmann

    University of Sussex, United Kingdom

    42 publications · 4.8K citations

    33

    h-index

1–5 of 6K

Institutions

1.5K

  1. National Cancer Institute

    Bethesda, United States

    53 h-index

    415 publications

    37K citations

  2. The University of Osaka

    Osaka, Japan

    44 h-index

    276 publications

    38.5K citations

  3. National Institutes of Health

    Bethesda, United States

    43 h-index

    249 publications

    20.5K citations

  4. University of Sussex

    Brighton, United Kingdom

    41 h-index

    174 publications

    25.5K citations

  5. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    41 h-index

    255 publications

    30.6K citations

  6. Centre National de la Recherche Scientifique

    Paris, France

    39 h-index

    249 publications

    13.8K citations

  7. University of California, San Francisco

    San Francisco, United States

    34 h-index

    161 publications

    8.7K citations

  8. Inserm

    Paris, France

    34 h-index

    251 publications

    15.1K citations

1–8 of 1.5K

Venues

  1. Proceedings of the National Academy of Sciences

    PNAS · 103 publications · 12.9K citations

    67

    h-index

  2. PubMed

    Repository · 196 publications · 10.5K citations

    60

    h-index

  3. Molecular and Cellular Biology

    MCB · 63 publications · 5.1K citations

    43

    h-index

  4. Journal of Biological Chemistry

    JBC · 56 publications · 6.1K citations

    42

    h-index

  5. Nucleic Acids Research

    66 publications · 3.8K citations

    38

    h-index

1–5