Concepedia

Mc2r Mutations

MC2R Mutations is a genetic alteration in the melanocortin 2 receptor gene that disrupts adrenal steroidogenesis and is associated with familial glucocorticoid deficiency type 1.

59

Publications

3K

Citations

332

Authors

147

Institutions

Publications per year

2017–2026

7

Parents

Publications

59

Human longevity: 25 genetic loci associated in 389,166 UK biobank participants

Luke C. Pilling, Chia‐Ling Kuo, Kamil Sicinski et al. · Aging · 2017 · 242 citations · Full text

, , +17

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children

Béatrice Dubern, Karine Clément, Véronique Pelloux et al. · The Journal of Pediatrics · 2001 · 196 citations

, , +13

Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations of<i>GNAS1</i>Gene

Maria Candida Barisson Villares Fragoso, Sorahia Domenice, Ana Cláudia Latronico et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 187 citations

, , +17

Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis

Dai Chida, Shinichi Nakagawa, So Nagai et al. · Proceedings of the National Academy of Sciences · 2007 · 163 citations · Full text

, , +17

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

1–5 of 59

Authors

332

  1. AC
    Adrian Clark

    Queen Mary University of London, United Kingdom

    18 publications · 1K citations

    16

    h-index

  2. LM
    Louise Metherell

    Queen Mary University of London, United Kingdom

    13 publications · 779 citations

    12

    h-index

  3. LF
    Li F. Chan

    Queen Mary University of London, United Kingdom

    8 publications · 442 citations

    8

    h-index

  4. DN
    Danielle Naville

    Inserm, France

    5 publications · 234 citations

    5

    h-index

  5. AH
    Angela Huebner

    Technische Universität Dresden, Germany

    5 publications · 409 citations

    5

    h-index

1–5 of 332

Institutions

147

  1. Queen Mary University of London

    London, United Kingdom

    15 h-index

    54 publications

    2.9K citations

  2. William Harvey Research Institute

    London, United Kingdom

    12 h-index

    46 publications

    2.6K citations

  3. Technische Universität Dresden

    Dresden, Germany

    7 h-index

    9 publications

    496 citations

  4. Inserm

    Paris, France

    5 h-index

    15 publications

    732 citations

  5. The University of Tokyo

    Tokyo, Japan

    3 h-index

    9 publications

    919 citations

  6. University College London

    London, United Kingdom

    3 h-index

    8 publications

    796 citations

  7. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    3 h-index

    5 publications

    153 citations

  8. Tokyo University of Science

    Tokyo, Japan

    3 h-index

    5 publications

    267 citations

1–8 of 147

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 15 publications · 864 citations

    14

    h-index

  2. European Journal of Endocrinology

    EJE · 4 publications · 79 citations

    4

    h-index

  3. Clinical Endocrinology

    4 publications · 316 citations

    4

    h-index

  4. Frontiers in Endocrinology

    3 publications · 116 citations

    3

    h-index

  5. Endocrinology

    3 publications · 126 citations

    3

    h-index

1–5