Concepedia

Col1a1 Mutations

COL1A1 Mutations is a genetic alteration in the COL1A1 gene, which encodes the pro-α1 chain of type I collagen, distinguished by its role in disrupting collagen synthesis and leading to the clinical manifestations of Osteogenesis Imperfecta.

487

Publications

26.4K

Citations

2.6K

Authors

896

Institutions

Publications per year

2017–2026

119

Parents

Publications

487

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis.

Billy G. Hudson, Stephen T. Reeders, Karl Tryggvason · Journal of Biological Chemistry · 1993 · 621 citations · Full text

, , +13

Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma

Marie‐Pierre Simon, Florence Pédeutour, Nicolas Sirvent et al. · Nature Genetics · 1997 · 528 citations

, , +14

A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality

Val Mann, Emma E. Hobson, Baohua Li et al. · Journal of Clinical Investigation · 2001 · 470 citations · Full text

, , +17

The human type I collagen mutation database

Raymond Dalgleish · Nucleic Acids Research · 1997 · 311 citations · Full text

, , +17

The <i>COL5A1</i> gene and Achilles tendon pathology

Gaonyadiwe George Mokone, Martin Schwellnus, Timothy D. Noakes et al. · Scandinavian Journal of Medicine and Science in Sports · 2005 · 288 citations · Full text

, , +11

1–5 of 487

Authors

2.6K

  1. PH
    Peter H. Byers

    University of Washington, United States

    33 publications · 2.8K citations

    27

    h-index

  2. JC
    Joan C. Marini

    Eunice Kennedy Shriver National Institute of Child Health and Human Development, United States

    22 publications · 1.3K citations

    20

    h-index

  3. DJ
    Darwin J. Prockop

    Jefferson Institute, United States

    17 publications · 968 citations

    17

    h-index

  4. AF
    Antonella Forlino

    University of Pavia, Italy

    15 publications · 676 citations

    13

    h-index

  5. AD
    Anne De Paepe

    Ghent University Hospital, Belgium

    12 publications · 807 citations

    12

    h-index

1–5 of 2.6K

Institutions

896

  1. University of Washington

    Seattle, United States

    26 h-index

    122 publications

    10.8K citations

  2. Eunice Kennedy Shriver National Institute of Child Health and Human Development

    Bethesda, United States

    21 h-index

    78 publications

    4.3K citations

  3. Ghent University Hospital

    Ghent, Belgium

    18 h-index

    89 publications

    5.6K citations

  4. Thomas Jefferson University

    Philadelphia, United States

    17 h-index

    52 publications

    2.8K citations

  5. Harvard University

    Cambridge, United States

    17 h-index

    48 publications

    2K citations

  6. McGill University

    Montreal, Canada

    16 h-index

    77 publications

    4.4K citations

  7. Jefferson Institute

    Washington, United States

    13 h-index

    47 publications

    2.8K citations

  8. Inserm

    Paris, France

    12 h-index

    50 publications

    3.7K citations

1–8 of 896

Venues

  1. Journal of Biological Chemistry

    JBC · 23 publications · 2.3K citations

    21

    h-index

  2. Journal of Bone and Mineral Research

    JBMR · 20 publications · 1.6K citations

    20

    h-index

  3. PubMed

    Repository · 26 publications · 1.9K citations

    18

    h-index

  4. Human Mutation

    17 publications · 1.2K citations

    15

    h-index

  5. Human Genetics

    12 publications · 410 citations

    11

    h-index

1–5