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

Metherell, Louise A, Chapple, J Paul, Cooray, Sadani, David, Alessia, Becker, Christian, Rüschendorf, Franz, Naville, Danielle, Begeot, Martine +5 more·2005·Nature Genetics

Cited by (439)

Items 401–439 of 439

  1. Genetic Disorders of Adrenocortical Function
    Fady Hannah‐Shmouni, Constantine A. Stratakis · 2018 · Endocrinology
  2. Familial glucocorticoid deficiency
    Claire H. Hughes, Louise Metherell, Adrian Clark · 2011
  3. Adrenals
    Bruno Ferraz‐de‐Souza, Lin Lin, John C. Achermann · 2009 · Yearbook of pediatric endocrinology
  4. O papel da enzima nicotinamide nucleotide transidrogenase na esteroidogênese adrenal e testicular
    Aline Faccioli Bodoni · 2022
  5. Buckle up! How the nano-seatbelt MRAP1 fastens ACTH in its orthosteric seat
    Daniel Hilger · 2023 · Cell Research
  6. Investigating the genetics of equine endocrine dysfunction
    Christina M. Cash · 2023 · Queensland University of Technology
  7. Unravelling the Environmental Variance of Litter Size Through the Genome and Gut Microbiome
    Cristina Casto‐Rebollo · 2023
  8. Animal models of adrenal genetic disorders
    Felix Beuschlein · 2023 · Elsevier eBooks
  9. Adrenal development
    Yewei Xing, John C. Achermann, Gary Douglas Hammer · 2023 · Elsevier eBooks
  10. Disorders of the Adrenal Gland in Children and Adolescents
    Harshini Katugampola, Nils Peter Krone · 2023 · Endocrinology
  11. Disorders of the Adrenal Gland in Children and Adolescents
    Harshini Katugampola, Nils Peter Krone · 2024 · Endocrinology
  12. Synthesis and Pharmacological Characterization of Adrenocorticotropic Hormone (ACTH 1–24) and C-Terminal Truncated Analogues Identifies the Minimal ACTH N-Terminal Fragment Required for Melanocorton-2 Receptor Activation
    Aleksandar Todorović, Mark D. Ericson, Kelly E. Gridley, Nicholas B. Sorenson, Carrie Haskell‐Luevano · 2024 · International Journal of Peptide Research and Therapeutics
  13. Distribution and sequence analysis of the melanocortin 2 receptor in horses and ponies
    Christina M. Cash, Melody Anne de Laat · 2024 · Domestic Animal Endocrinology
  14. ACTH, melanocortin receptors, and MRAP accessory proteins
    Robert M. Dores · 2024 · Elsevier eBooks
  15. 10.1016/s1155-1941(13)39551-1
    2000 · Time to knit
  16. 10.1016/b978-1-4160-2911-3.50016-9
    2000 · Time to knit
  17. Disorders of the Adrenal Cortex in the Fetus and Neonate
    Christa E. Flück, Therina du Toit, Walter L. Miller · 2025 · Elsevier eBooks
  18. Assemblage oligomérique des récepteurs couplés aux protéines G avec les RAMPs
    Madeleine Héroux · 2009
  19. Chronic psychosocial stress and HPA axis functionality in male C57BL/6 mice - a closer look at the adrenal level
    Schmidt, Nicole Maria · 2014 · University of Regensburg Publication Server (University of Regensburg)
  20. Additional file 4 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  21. Additional file 3 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  22. Additional file 1 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  23. Additional file 7 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  24. Additional file 6 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  25. Additional file 2 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  26. Additional file 5 of Genetic aetiology of primary adrenal insufficiency in Chinese children
    Zhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
  27. The Hypothalamic–Pituitary–Adrenal Axis Orchestrates Energy Homeostasis during Cold Exposure
    Mireia Llerins Perez, Xinran Gao, Laura Heimerl, Yuanyuan Wang, Katharina Schnabl, Uwe Firzlaff, Harald Luksch, Martin Klingenspor, N. Henriette Uhlenhaut, Dehua Wang et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  28. Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
    Ibrahim A. Al Alwan, Raja Hussain Ali, Muhammad Umair, Imran Ali Khan, Nada Alotaibi, Essra Aloyouni, Deemah Alwadaani, Latifah Alayyar, Shahad Haddad, Shahad Alawaji et al. · 2026 · Journal of Clinical & Translational Endocrinology
  29. The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study
    Emrullah Arslan, Aslı Ece Solmaz, Deniz Özalp Kızılay, Haluk Akın, Hanife Gül Balkı, Arzu Jalilova, Damla Gökşen, Şükran Darcan, Samim Özen · 2026 · Endocrine
  30. An unusual presentation of familial glucocorticoid deficiency type 2 with tall stature: A case report
    Richa Arora, Seema Thakur, Nishant Mittal · 2026 · Journal of Pediatric Endocrinology and Diabetes
  31. Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling
    Alejandra Virginia Rodriguez Rondon, Karina Prins, Femke Volker · 2026 · Human Molecular Genetics
  32. Progression tumorale dans un modèle murin de carcinogénèse surrénalienne ciblée induite par antigène T de SV 40 : Recherche de cibles thérapeutiques pour le corticosurrénalome.
    Marie Batisse‐Lignier · 2016 · theses.fr (ABES)
  33. Génomique intégrée des tumeurs bénignes corticosurrénaliennes
    Simon Faillot · 2017 · theses.fr (ABES)
  34. Rôle de la signalisation PKA dans la zonation de la glande surrénale : modèles génétiques murins et mécanismes post-traductionnels
    Typhanie Dumontet · 2017 · theses.fr (ABES)
  35. Étiologies moléculaires des insuffisances surrénales primaires congénitales : développements statistiques pour la validation du séquençage parallèle massif
    Florence Roucher‐Boulez · 2018 · theses.fr (ABES)
  36. Rôle des voies de signalisation AMPc/PKA et Wnt/bêta-caténine dans la formation des systèmes de régulation aberrants au sein de la corticosurrénale
    Julie Le Mestre · 2018 · theses.fr (ABES)
  37. Identification de voies neuroendocriniennes du contrôle de la physiologie chez l'huître Crassostrea gigas par la caractérisation fonctionnelle de couples ligands/récepteurs
    Julie Schwartz · 2019
  38. Des toxines animales comme ligands innovants des récepteurs aux mélanocortines
    Steve Reynaud · 2019
  39. Neural Melanocortin Receptors in Fish: Insights into Growth Regulation and Aquaculture Advancement
    Renlei Ji, Ya‐Xiong Tao · 2026 · Biomolecules