Concepedia

Sitosterolemia Genetics

Sitosterolemia Genetics is a genetic research framework that investigates the inherited metabolic disorder characterized by excessive accumulation of plant sterols due to mutations in the ABCG5 or ABCG8 genes, distinguishing it from other lipid metabolism disorders by its specific molecular transport defect and autosomal recessive inheritance pattern.

75

Publications

7.2K

Citations

411

Authors

179

Institutions

Publications per year

2017–2026

15

Parents

Publications

75

Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters

Knut Erik Berge, Hui Tian, Gregory A. Graf et al. · Science · 2000 · 1.6K citations

, , +17

Regulation of ATP-binding Cassette Sterol Transporters ABCG5 and ABCG8 by the Liver X Receptors α and β

Joyce J. Repa, Knut Erik Berge, Chris Pomajzl et al. · Journal of Biological Chemistry · 2002 · 844 citations · Full text

, , +17

Disruption of <i>Abcg5</i> and <i>Abcg8</i> in mice reveals their crucial role in biliary cholesterol secretion

Liqing Yu, Robert E. Hammer, Jia Li-Hawkins et al. · Proceedings of the National Academy of Sciences · 2002 · 715 citations

, , +17

Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

Kangmo Lu, Mi-Hye Lee, E. Starr Hazard et al. · The American Journal of Human Genetics · 2001 · 358 citations · Full text

, , +15

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Knut Erik Berge, Klaus von Bergmann, Dieter Lütjohann et al. · Journal of Lipid Research · 2002 · 231 citations · Full text

, , +17

1–5 of 75

Authors

411

  1. SB
    Shailendra B. Patel

    Medical University of South Carolina, United States

    10 publications · 955 citations

    10

    h-index

  2. HH
    Helen H. Hobbs

    The University of Texas Southwestern Medical Center, United States

    9 publications · 4K citations

    9

    h-index

  3. GS
    Gerald Salen

    Veterans Biomedical Research Institute, United States

    8 publications · 423 citations

    8

    h-index

  4. JC
    Jonathan C. Cohen

    The University of Texas Southwestern Medical Center, United States

    7 publications · 1.5K citations

    7

    h-index

  5. SS
    Sarah Shefer

    Rutgers New Jersey Medical School, United States

    7 publications · 382 citations

    7

    h-index

1–5 of 411

Institutions

179

  1. The University of Texas Southwestern Medical Center

    Dallas, United States

    11 h-index

    43 publications

    21.9K citations

  2. Rutgers, The State University of New Jersey

    New Brunswick, United States

    9 h-index

    36 publications

    1.8K citations

  3. Medical University of South Carolina

    Charleston, United States

    8 h-index

    37 publications

    3.4K citations

  4. Kanazawa University

    Kanazawa, Japan

    7 h-index

    41 publications

    1.4K citations

  5. Rutgers New Jersey Medical School

    Newark, United States

    7 h-index

    22 publications

    1.1K citations

  6. Veterans Biomedical Research Institute

    East Orange, United States

    7 h-index

    25 publications

    811 citations

  7. University of Bonn

    Bonn, Germany

    7 h-index

    23 publications

    6.3K citations

  8. University Hospital, Newark

    Newark, United States

    6 h-index

    17 publications

    967 citations

1–8 of 179

Venues

  1. Journal of Lipid Research

    JLR · 14 publications · 1.2K citations

    14

    h-index

  2. Metabolism

    5 publications · 162 citations

    5

    h-index

  3. Journal of Biological Chemistry

    JBC · 4 publications · 1K citations

    4

    h-index

  4. PubMed

    Repository · 3 publications · 151 citations

    3

    h-index

  5. Journal of clinical lipidology

    3 publications · 128 citations

    3

    h-index

1–5