Concepedia

Lep Mutations

LEP Mutations is a genetic aberration characterized by pathogenic variants in the LEP gene that disrupt the synthesis or function of leptin, a hormone critical for regulating energy balance and pubertal development, thereby leading to congenital leptin deficiency and associated puberty disorders.

85

Publications

4.8K

Citations

775

Authors

375

Institutions

Publications per year

2017–2026

20

Variants

Lep Gene Mutations

Parents

Publications

85

Leptin Mediates the Increase in Blood Pressure Associated with Obesity

Stephanie E. Simonds, Jack T. Pryor, Éric Ravussin et al. · Cell · 2014 · 346 citations · Full text

, , +13

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity

Barbara Paolini, Paolo Enrico Maltese, Irene Del Ciondolo et al. · Genetics and Molecular Research · 2016 · 308 citations · Full text

, , +12

Phenotype of the Obese Koletsky (<i>f</i>) Rat Due to Tyr763Stop Mutation in the Extracellular Domain of the Leptin Receptor (Lepr): Evidence for Deficient Plasma-to-CSF Transport of Leptin in Both the Zucker and Koletsky Obese Rat

X. Sharon Wu-Peng, Streamson C. Chua, Norichika A. Okada et al. · Diabetes · 1997 · 219 citations · Full text

, , +12

Biologically Inactive Leptin and Early-Onset Extreme Obesity

Martin Wabitsch, Jan‐Bernd Funcke, Belinda Lennerz et al. · New England Journal of Medicine · 2014 · 217 citations · Full text

, , +17

Association of the G-2548A polymorphism in the 5′ region of the LEP gene with overweight

Olivier Mammes, D. Betoulle, R. Aubert et al. · Annals of Human Genetics · 2000 · 201 citations

, , +13

1–5 of 85

Authors

775

  1. RL
    Rudolph L. Leibel

    Columbia University, United States

    8 publications · 871 citations

    8

    h-index

  2. SC
    Streamson C. Chua

    Albert Einstein College of Medicine, United States

    4 publications · 405 citations

    4

    h-index

  3. PG
    Peter Gierschik

    Universität Ulm, Germany

    3 publications · 370 citations

    3

    h-index

  4. NG
    Niels Grarup

    University of Copenhagen, Denmark

    3 publications · 259 citations

    3

    h-index

  5. AG
    André G. Uitterlinden

    Erasmus MC, Netherlands

    3 publications · 293 citations

    3

    h-index

1–5 of 775

Institutions

375

  1. Columbia University

    New York, United States

    7 h-index

    20 publications

    1.9K citations

  2. University of Turku

    Turku, Finland

    4 h-index

    9 publications

    926 citations

  3. Universität Ulm

    Ulm, Germany

    4 h-index

    31 publications

    3.9K citations

  4. Erasmus MC

    Rotterdam, The Netherlands

    3 h-index

    16 publications

    1.8K citations

  5. University of Copenhagen

    Copenhagen, Denmark

    3 h-index

    23 publications

    1.9K citations

  6. Leiden University Medical Center

    Leiden, The Netherlands

    3 h-index

    27 publications

    3.9K citations

  7. Wellcome Trust

    London, United Kingdom

    3 h-index

    7 publications

    1.8K citations

  8. University of Helsinki

    Helsinki, Finland

    3 h-index

    10 publications

    1.6K citations

1–8 of 375

Venues

  1. Diabetes

    5 publications · 553 citations

    5

    h-index

  2. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 5 publications · 377 citations

    5

    h-index

  3. Journal of Animal Breeding and Genetics

    3 publications · 92 citations

    3

    h-index

  4. PubMed

    Repository · 3 publications · 51 citations

    3

    h-index

  5. Endocrinology

    3 publications · 93 citations

    3

    h-index

1–5