Concepedia

Mrap Mutations

MRAP Mutations is a genetic aberration characterized by pathogenic variants in the Melanocortin 2 Receptor Accessory Protein (MRAP) gene, which disrupts adrenal steroidogenesis and is primarily associated with familial glucocorticoid deficiency type 2.

34

Publications

2.3K

Citations

264

Authors

118

Institutions

Publications per year

2017–2026

11

Parents

Publications

34

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics · 2005 · 446 citations

, , +13

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity

Masato Asai, Shwetha Ramachandrappa, Maria Joachim et al. · Science · 2013 · 306 citations · Full text

, , +14

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

Li F. Chan, Tom R. Webb, Teng‐Teng Chung et al. · Proceedings of the National Academy of Sciences · 2009 · 244 citations · Full text

, , +13

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Louise Metherell, Danielle Naville, G Halaby et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 159 citations · Full text

, , +17

Regions of Melanocortin 2 (MC2) Receptor Accessory Protein Necessary for Dual Topology and MC2 Receptor Trafficking and Signaling

Julien A. Sebag, Patricia M. Hinkle · Journal of Biological Chemistry · 2008 · 130 citations · Full text

, , +15

1–5 of 34

Authors

264

  1. AC
    Adrian Clark

    Queen Mary University of London, United Kingdom

    13 publications · 1.4K citations

    11

    h-index

  2. LF
    Li F. Chan

    Queen Mary University of London, United Kingdom

    10 publications · 1K citations

    10

    h-index

  3. LM
    Louise Metherell

    Queen Mary University of London, United Kingdom

    11 publications · 1.2K citations

    10

    h-index

  4. SN
    Sadani N. Cooray

    Queen Mary University of London, United Kingdom

    4 publications · 842 citations

    4

    h-index

  5. JP
    J. Paul Chapple

    Queen Mary University of London, United Kingdom

    4 publications · 842 citations

    4

    h-index

1–5 of 264

Institutions

118

  1. William Harvey Research Institute

    London, United Kingdom

    13 h-index

    52 publications

    5.8K citations

  2. Queen Mary University of London

    London, United Kingdom

    12 h-index

    56 publications

    7.7K citations

  3. Inserm

    Paris, France

    3 h-index

    12 publications

    2K citations

  4. University College London

    London, United Kingdom

    3 h-index

    5 publications

    1.5K citations

  5. Erciyes University

    Kayseri, Türkiye

    2 h-index

    4 publications

    67 citations

  6. Boston Children's Hospital

    Boston, United States

    2 h-index

    12 publications

    3.5K citations

  7. University of Birmingham

    Birmingham, United Kingdom

    2 h-index

    3 publications

    477 citations

  8. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    2 h-index

    5 publications

    698 citations

1–8 of 118

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 7 publications · 354 citations

    7

    h-index

  2. European Journal of Endocrinology

    EJE · 4 publications · 79 citations

    4

    h-index

  3. Frontiers in Endocrinology

    2 publications · 100 citations

    2

    h-index

  4. Cell Research

    1 publications · 33 citations

    1

    h-index

  5. Clinical and Translational Medicine

    CTM · 1 publications · 24 citations

    1

    h-index

1–5