Concepedia

Cohesin Defects

Cohesin Defects is a molecular pathology characterized by impaired function or regulation of the cohesin complex, a ring-shaped protein assembly that mediates sister chromatid cohesion and chromatin loop organization, leading to aberrant chromosome segregation and genomic instability.

79

Publications

7.2K

Citations

746

Authors

305

Institutions

Publications per year

2017–2026

23

Parents

Publications

79

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 576 citations · Full text

, , +8

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 522 citations · Full text

, , +6

Mutational Inactivation of <i>STAG2</i> Causes Aneuploidy in Human Cancer

David A. Solomon, Taeyeon Kim, Laura A. Díaz-Martínez et al. · Science · 2011 · 428 citations · Full text

, , +17

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

Ayana Kon, Lee‐Yung Shih, Masashi Minamino et al. · Nature Genetics · 2013 · 394 citations

, , +17

SMC1β-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction

Craig A. Hodges, Ekaterina Revenkova, Rolf Jessberger et al. · Nature Genetics · 2005 · 320 citations

, , +11

1–5 of 79

Authors

746

  1. MA
    Matthew A. Deardorff

    Children's Hospital of Philadelphia, United States

    8 publications · 1.1K citations

    8

    h-index

  2. DD
    Dale Dorsett

    Saint Louis University, United States

    7 publications · 855 citations

    7

    h-index

  3. KS
    Katsuhiko Shirahige

    The University of Tokyo, Japan

    6 publications · 1.2K citations

    6

    h-index

  4. ID
    Ian D. Krantz

    Children's Hospital of Philadelphia, United States

    6 publications · 1.4K citations

    6

    h-index

  5. ID
    Ian D. Krantz

    Children's Hospital of Philadelphia, United States

    6 publications · 666 citations

    6

    h-index

1–5 of 746

Institutions

305

  1. Children's Hospital of Philadelphia

    Philadelphia, United States

    12 h-index

    55 publications

    12.3K citations

  2. University of Pennsylvania

    Philadelphia, United States

    10 h-index

    25 publications

    5.8K citations

  3. Saint Louis University

    St Louis, United States

    7 h-index

    11 publications

    1.5K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    7 h-index

    45 publications

    6.5K citations

  5. The University of Tokyo

    Tokyo, Japan

    6 h-index

    43 publications

    16K citations

  6. Icahn School of Medicine at Mount Sinai

    New York, United States

    5 h-index

    10 publications

    1.5K citations

  7. Stowers Institute for Medical Research

    Kansas City, United States

    5 h-index

    28 publications

    2.1K citations

  8. University of Otago

    Dunedin, New Zealand

    5 h-index

    13 publications

    1.2K citations

1–8 of 305

Venues

  1. PLoS ONE

    6 publications · 285 citations

    6

    h-index

  2. PLoS Genetics

    4 publications · 374 citations

    4

    h-index

  3. Nature Genetics

    4 publications · 881 citations

    4

    h-index

  4. Human Molecular Genetics

    4 publications · 314 citations

    4

    h-index

  5. Blood

    3 publications · 525 citations

    3

    h-index

1–5