Concepedia

Fibrillin Deficiency

Fibrillin Deficiency is a genetic connective tissue disorder characterized by reduced production or impaired function of fibrillin-1, a glycoprotein essential for the formation of elastic fibers in the extracellular matrix, leading to structural weaknesses in connective tissues.

119

Publications

12.6K

Citations

679

Authors

249

Institutions

Publications per year

2017–2026

11

Parents

Publications

119

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

, , +10

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

Brendan Lee, Maurice Godfrey, Emilia Vitale et al. · Nature · 1991 · 675 citations

, , +12

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

Lygia V. Pereira, Sui Ying Lee, Barbara Gayraud-Morel et al. · Proceedings of the National Academy of Sciences · 1999 · 549 citations

, , +17

TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

Connie M. Ng, Alan Cheng, Loretha Myers et al. · Journal of Clinical Investigation · 2004 · 519 citations · Full text

, , +16

TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

Connie M. Ng, Alan Cheng, Loretha Myers et al. · Journal of Clinical Investigation · 2004 · 479 citations · Full text

, , +16

1–5 of 119

Authors

679

  1. HC
    Harry C. Dietz

    Johns Hopkins University, United States

    15 publications · 4.7K citations

    14

    h-index

  2. FR
    Francesco Ramirez

    Icahn School of Medicine at Mount Sinai, United States

    15 publications · 3.5K citations

    14

    h-index

  3. LY
    Lynn Y. Sakai

    Shriners Hospitals for Children - Portland, United States

    14 publications · 4.6K citations

    14

    h-index

  4. RP
    Robert P. Mecham

    Washington University in St. Louis, United States

    7 publications · 1.3K citations

    7

    h-index

  5. DP
    Dieter P. Reinhardt

    McGill University, Canada

    7 publications · 669 citations

    7

    h-index

1–5 of 679

Institutions

249

  1. Johns Hopkins University

    Baltimore, United States

    15 h-index

    66 publications

    28.3K citations

  2. Icahn School of Medicine at Mount Sinai

    New York, United States

    15 h-index

    52 publications

    8.2K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    13 h-index

    28 publications

    4.2K citations

  4. Johns Hopkins Medicine

    Baltimore, United States

    13 h-index

    49 publications

    26.4K citations

  5. Shriners Hospitals for Children - Portland

    Portland, United States

    12 h-index

    26 publications

    11.2K citations

  6. McGill University

    Montreal, Canada

    8 h-index

    13 publications

    773 citations

  7. Washington University in St. Louis

    St Louis, United States

    7 h-index

    9 publications

    2.4K citations

  8. University of Nebraska Medical Center

    Omaha, United States

    6 h-index

    12 publications

    2.3K citations

1–8 of 249

Venues

  1. PubMed

    Repository · 15 publications · 522 citations

    14

    h-index

  2. Journal of Clinical Investigation

    JCI · 5 publications · 1.5K citations

    5

    h-index

  3. Human Molecular Genetics

    5 publications · 803 citations

    5

    h-index

  4. Journal of Biological Chemistry

    JBC · 4 publications · 450 citations

    4

    h-index

  5. Nature Genetics

    3 publications · 956 citations

    3

    h-index

1–5