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, Khoo, Bernard, Nürnberg, Peter, Huebner, Angela, Cheetham, Michael E, Clark, Adrian J L·2005·Nature Genetics
DOI 10.1038/ng1501
Cited by (436)
Items 301–400 of 436
- Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromesCatherine E. Keegan, Janna Hutz, Andrea S. Krause, Katrin Koehler, Louise Metherell, Sosipatros Alexandros Boikos, Sotirios G. Stergiopoulos, Adrian J. L. Clark, Constantine A. Stratakis, Angela Huebner et al. · 2007 · Clinical Endocrinology
- Are Melanocortin Receptors Present in Extant Protochordates?Renlei Ji, Shan-Shan Jiang, Gunnar Kleinau, Patrick Scheerer, Ya‐Xiong Tao · 2024 · Biomolecules
- Characteristics and Challenges of Primary Adrenal Insufficiency in Africa: A Review of the LiteratureThabiso Rafaki Petrus Mofokeng, Salem Beshyah, Ian Louis Ross · 2022 · International Journal of Endocrinology
- Chapter 5 The Molecular Basis of Adrenocorticotrophin Resistance SyndromeLucila Leico Kagohara Elias, AdrianJ.L. Clark · 2009 · Progress in molecular biology and translational science
- How does stress possibly affect cardiac remodeling?Dejana Popović, Bosiljka Plećaš‐Solarović, Vesna Pešić, Milan Petrovic, Bosiljka D. Vujisic-Tesic, Bojana M. Popovic, Svetlana Ignjatović, Arsen D. Ristić, Svetozar S Damjanovic · 2014 · Peptides
- Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case reportChun Chen, Rui Zhou, Yanlan Fang, Liqiong Jiang, Li Liang, Chunlin Wang · 2016 · Molecular Genetics and Metabolism Reports
- Neuroendocrine GPCR SignalingRobert Peter Millar, Claire L. Newton, Antonia Kathryn Roseweir · 2012 · Elsevier eBooks
- Modulation of Canine Melanocortin-3 and -4 Receptors by Melanocortin-2 Receptor Accessory Protein 1 and 2Renlei Ji, Shan-Shan Jiang, Ya‐Xiong Tao · 2022 · Biomolecules
- Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case reportKotb Abbass Metwalley, Hekma Saad Farghaly · 2012 · Journal of Medical Case Reports
- siRNA-mediated knockdown of the melanocortin 2 receptor accessory protein 2 (MRAP2) gene confers resistance to methylmercury on HEK293 cellsGi‐Wook Hwang, Seong-Eun Oh, Tsutomu Takahashi · 2010 · The Journal of Toxicological Sciences
- Polymorphism of Melanocortin Receptor Genes—Association with Inflammatory Traits and DiseasesMainak Bardhan, Ayush Anand, Amaan Javed, Maria Andrea Chilo, Nida Khan, Tulika Garg, ARIHANT SURANA, Helen Ye Rim Huang, Mahammad Samim Mondal, Vinay Suresh et al. · 2025 · Diseases
- Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary CellsPerry V. Davis, Ciarán A. Shaughnessy, Robert M. Dores · 2022 · Biomolecules
- ACTH Resistance Syndrome: An Experience of Three CasesAlpesh Goyal, Hiya Boro, Deepak Khandelwal, Rajesh Khadgawat · 2018 · Indian Journal of Endocrinology and Metabolism
- AdrenocorticotropinOulu Wang, Joseph A. Majzoub · 2010 · Elsevier eBooks
- Adrenocorticotropic HormoneErika Harno, Anne E. White · 2015 · Elsevier eBooks
- Intracellular Trafficking of G Protein-Coupled Receptors to the Cell Surface Plasma Membrane in Health and DiseaseAlfredo Ulloa‐Aguirre, Jo Ann Janovick, Teresa Zariñán, Aylin Carla Hanyaloglu · 2021 · Elsevier eBooks
- Functional Characterization of the Internal Symmetry of MRAP2 Antiparallel HomodimerMeng Wang, Linyu Pi, Xiaowei Lei, Lei Li, Jing Xu, Zhe Kuang, Cong Zhang, Liang Li, Chao Zhang · 2021 · Frontiers in Endocrinology
- Pharmacological Evaluation of Melanocortin 2 Receptor Accessory Protein 2 on Axolotl Neural Melanocortin SignalingXiaozhu Wang, Song Xue, Xiaowei Lei, Wenqi Song, Lei Li, Xuan Li, Yanbin Fu, Cong Zhang, Hailin Zhang, Yao Luo et al. · 2022 · Frontiers in Endocrinology
- Pharmacological properties of whale shark (Rhincodon typus) melanocortin-2 receptor and melancortin-5 receptor: Interaction with MRAP1 and MRAP2Brianne E. Hoglin, Marin V. Miner, Robert M. Dores · 2021 · General and Comparative Endocrinology
- Receptor transduction pathways mediating hormone actionBassil M. Kublaoui, Michael A. Levine · 2014 · Elsevier eBooks
- Elucidation of the dimeric interplay of dual MRAP2 proteins in the zebrafishMeng Wang, Yue Zhai, Liumei Lu, Cong Zhang, Na Li, Song Xue, Daofu Cheng, Shaliu Fu, Qi Liu, Chao Zhang · 2021 · Journal of Cellular Physiology
- 3. Principles of the Crosstalk between Brain and Body – Glandotropy, Ergotropy, and TrophotropyDirk Helmut Hellhammer · 2008 · KARGER eBooks
- Deorphanization of G-Protein-Coupled ReceptorsMarc Parmentier, Michel Detheux · 2007 · Ernst Schering Research Foundation workshop/Ernst Schering Foundation Symposium proceedings
- A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiencyIsabelle Benoit, D. Drui, Lucy Chaillous, Benoît Dupas, Jean‐François Mosnier, Bernard H. Charbonnel, Bertrand Cariou · 2009 · European Journal of Endocrinology
- A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid DeficiencyYing Duan, Yu Xia, Zhuwen Gong, Huili Liu, Lili Liang, Kaichuang Zhang, Yi Yang, Ruifang Wang, Bing Xiao, Wenjuan Qiu · 2022 · Molecular Syndromology
- Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case ReportNaseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise Metherell · 2022 · Frontiers in Endocrinology
- Analyzing the Hypothalamus/Pituitary/Interrenal axis of the neopterygian fish, Lepisosteus oculatus: Co-localization of MC2R, MC5R, MRAP1, and MRAP2 in interrenal cellsMarty Kwok‐Shing Wong, Robert M. Dores · 2022 · General and Comparative Endocrinology
- Molecular and pharmacological analysis of the melanocortin-2 receptor and its accessory proteins Mrap1 and Mrap2 in a Squalomorph shark, the Pacific spiny dogfishIan A. Bouyoucos, Ciarán A. Shaughnessy, W. Gary Anderson, Robert M. Dores · 2023 · General and Comparative Endocrinology
- Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiencySalwa Abdelbagi Musa, Mohamed Ahmed Abdullah, Samar Sabir Hassan, Luqman Safwan Fauzi, Omer Babiker, Amna I. Ahmed, Marwa Mohammedali, Claire E. Hutchison, Ghassan Mohamadsalih, Charlotte Louise Hall et al. · 2025 · European Journal of Endocrinology
- The melanocortin-2 receptor of the rainbow trout: Identifying a role for critical positions in transmembrane domain 4, extracellular loop 2, and transmembrane domain 5 in the activation of rainbow trout MC2RLiang Liang, Perry V. Davis, Michael Robert Dores, Robert M. Dores · 2017 · General and Comparative Endocrinology
- Hipercrecimientos con y sin obesidad: fundamentos clínicos y molecularesJesús Argente, J.F. Sotos · 2011 · Anales de Pediatría
- Evidence for diversity in the activation of the melanocortin 2 receptor: A study on gar, elephant shark and stingray MC2RsBrianne E. Hoglin, Amanda Ferguson, Sheila Pahlavan, Robert M. Dores · 2019 · Peptides
- Endocrinology research—reflecting on the past decade and looking to the nextKevan C. Herold, Joseph A. Majzoub, Shlomo K. Melmed, Merri Pendergrass, Martin Jean Schlumberger · 2015 · Nature Reviews Endocrinology
- Genetics of ACTH insensitivity syndromesJ.L.A. Clark, Louise Metherell, Danielle Naville, Martine Bégeot, Angela Huebner · 2005 · Annales d Endocrinologie
- Trafic cellulaire des récepteurs GABABvers la membrane : PRAF2, un nouveau point de contrôleStéphane Doly, Stéfano Marullo · 2015 · médecine/sciences
- Protein homeostasis and regulation of intracellular trafficking of G protein-coupled receptorsAlfredo Ulloa‐Aguirre, Aylin Carla Hanyaloglu, Teresa Zariñán, Jo Ann Janovick · 2020 · Elsevier eBooks
- G Protein-Coupled ReceptorsWilliam J. Thomsen, Dominic P. Behan · 2007 · Elsevier eBooks
- Pharmacological Chaperones: Potential for the Treatment of Hereditary Diseases Caused by Mutations in G Protein‐Coupled ReceptorsKenneth J. Valenzano, Elfrida R. Benjamin, Patricia René, Michel Bouvier · 2010 · Wiley eBooks
- Severe adrenal insufficiency in six neonates with normal newborn screening for CAHİlknur Kurt, Metin Eser, Ahmet Kahveci, Ahmet Uçar, Derya Buluş, Bahar Özcabı, Ömer Güran, Selen Karagözlü, Ayşenur Ersoy, Senol Demir et al. · 2024 · Clinical Endocrinology
- The Hypothalamic-Pituitary-Adrenal Axis and Its RegulationShengnan Li, Chao Zhu · 2025 · Springer eBooks
- Allosteric Sites and Allosteric Regulators of G Protein-Coupled Receptors: Gray Cardinals of Signal TransductionAlexander Olegovich Shpakov · 2023 · Journal of Evolutionary Biochemistry and Physiology
- Genetic Variation of Hypothalamic-Pituitary-Adrenal Axis Activity in Farm Animals and BeyondElena Mormede Terenina, Pierre Mormède · 2024 · Neuroendocrinology
- Hypoglycémie néonatale sévère et récidivante sans perte de sel révélatrice d’un syndrome de résistance à l’ACTHO. Delmas, Céline Marrec, Emilie Caietta, Gilbert Simonin, Yves Morel, Nadine J Girard, Florence Roucher‐Boulez, J. Sarles, B. Chabrol, Rachel Reynaud · 2014 · Archives de Pédiatrie
- Functional characterization of melanocortin 2 receptor (Mc2r) from a lobe-finned fish (Protopterus annectens) and insights into the molecular evolution of melanocortin receptorsCiarán A. Shaughnessy, Khoa M. Le, Valorie D. Myhre, Robert M. Dores · 2023 · General and Comparative Endocrinology
- High-throughput Screening for Cushing Disease: Therapeutic Potential of Thiostrepton via Cell Cycle RegulationTakuro Hakata, Ichiro Yamauchi, Daisuke Kosugi, Taku Sugawa, Haruka Fujita, Kentaro Okamoto, Yohei Ueda, Toshihito Fujii, Daisuke Taura, Nobuya Inagaki · 2024 · Endocrinology
- Genomics in Pediatric Endocrinology—Genetic Disorders and New TechniquesAlfred Tenore, Daniela Driul · 2011 · Pediatric Clinics of North America
- Neonatal Hyperpigmentation: Diagnosis of Familial Glucocorticoid Deficiency with a Novel Mutation in the Melanocortin‐2 Receptor GeneElad Jacoby, Aviv Barzilai, Joseph Laufer, Shai Pade, Yair Anikster, Orit Pinhas‐Hamiel, Shoshana Greenberger · 2013 · Pediatric Dermatology
- Adrenal InsufficiencyKathleen E. Bethin, Louis J. Muglia · 2013 · Humana Press eBooks
- Editorial: Neuropeptide GPCRs in neuroendocrinology, Volume IIHubert Vaudry, Liliane Schoofs, Olivier Civelli, Masayasu Kojima · 2023 · Frontiers in Endocrinology
- Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in childrenJan Windholz, Peter Louis Kovacs, Marina Schlicke, Christin Franke, Anubha Mahajan, Andrew P. Morris, Johannes R. Lemke, Jürgen Klammt, Wieland Kieß, Torsten Schöneberg et al. · 2017 · Journal of Pediatric Endocrinology and Metabolism
- Regulation of Adrenal SteroidogenesisMarjut Pihlajoki, Markku Heikinheimo, David Brown Wilson · 2017 · Contemporary Endocrinology
- Co-culture of vascular endothelial cells enhances corticosterone production in steroid hormone-producing cells generated from adipose-derived mesenchymal stromal cellsToshikazu Niimi, Tomoko Tanaka, Chikao Aoyagi, Yasuhiro Onda, Shinichiro Nagamitsu, Shohta Kodama · 2024 · Scientific Reports
- Melanocortin/melanocortin receptorsRobert M. Dores, Richard Lyle Londraville, Jeremy W. Prokop, Perry V. Davis, Nathan Dewey, Natalie Lesinski · 2014 · Journal of Molecular Endocrinology
- GPCR’s and EndocrinologyCaroline M. Gorvin · 2021 · Elsevier eBooks
- ALLOSTERIC SITES AND ALLOSTERIC REGULATORS OF G-PROTEIN-COUPLED RECEPTORS: GRAY CARDINALS OF SIGNAL TRANSDUCTIONAlexander Olegovich Shpakov · 2023 · Журнал эволюционной биохимии и физиологии
- Adrenal InsufficiencyKathleen E. Bethin, Indrajit Majumdar, Louis J. Muglia · 2024 · Springer eBooks
- Molecular Genetics of Inherited Glucocorticoid DeficiencyEirini Meimaridou, Julia Kowalczyk, Louise Metherell · 2014 · Wiley eBooks
- Mineralocorticoid DeficiencyPaul M. Stewart, Marcus O. Quinkler · 2015 · Elsevier eBooks
- Pharmacology of orange-spotted grouper (Epinephelus coioides) melanocortin-5 receptor and its modulation by Mrap2Liqin Ji, Ying-Zhu Rao, Yong Zhang · 2022 · General and Comparative Endocrinology
- Follow up of a rare case of adrenal insufficiency due to NNT mutationSavita Khadse, Karishma Bhade, Nikhil B. Shah, Radha Gulati Ghildiyal · 2024 · BMJ Case Reports
- Evolution of the Melanocortin SystemEsther Leal, Borja Muriach, José Miguel Cerdá‐Reverter · 2025 · Masterclass in neuroendocrinology
- Familial isolated glucocorticoid deficiency: three clinical cases and a brief overview of the current literatureElizaveta Orlova, Maria Kareva, Maria Melikian, Anatoly Nikolaevich Tiulpakov, Valentina Aleksandrovna Peterkova · 2013 · Problems of Endocrinology
- Melanocortin receptors in GtoPdb v.2023.1Vanni Caruso, Biaoxin Chai, Adrian Clark, Roger D. Cone, Alex N. Eberlé, I. Sadaf Farooqi, Tung Ming Fong, Ira Gantz, Carrie Haskell‐Luevano, Victor J. Hruby et al. · 2023 · IUPHAR/BPS Guide to Pharmacology CITE
- Adrenal DevelopmentYewei Xing, John C. Achermann, Gary Douglas Hammer · 2013 · Elsevier eBooks
- Mechanism of glucocorticoid action in immunology—Basic conceptsMadeleine Wood, Shannon Whirledge · 2021 · Elsevier eBooks
- Adrenal InsufficiencyKathleen E. Bethin, Indrajit Majumdar, Louis J. Muglia · 2018 · Springer eBooks
- Adrenocorticotropic hormoneAkiyoshi Takahashi · 2021 · Elsevier eBooks
- Mineralocorticoid DeficiencyPaul M. Stewart, Marcus O. Quinkler · 2010 · Elsevier eBooks
- AdrenocorticotrophinLindsey S. Gaston, Joseph A. Majzoub · 2022 · Elsevier eBooks
- Animal Models of Adrenal Genetic DisordersFelix Beuschlein · 2013 · Elsevier eBooks
- Genomics in Pediatric Endocrinology—Genetic Disorders and New TechniquesAlfred Tenore, Daniela Driul · 2009 · Endocrinology and Metabolism Clinics of North America
- Identifying G Protein-Coupled Receptor Escorts, Chaperones, and Intracellular Tethers Regulating Receptor Density at the Cell SurfaceStéfano Marullo, Liliana Pardo Lopez, Lamia Achour · 2011 · Neuromethods
- ACTH, Melanocortin Receptors, and MRAP Accessory ProteinsRobert M. Dores · 2017 · Elsevier eBooks
- Analyzing the Hpi Axis of the Neopterygian Fish, Lepisosteus Oculatus: Co-Localization of Mc2r, Mc5r, Mrap1, and Mrap2 in Interrenal CellsMarty Kwok‐Shing Wong, Robert M. Dores · 2022 · SSRN Electronic Journal
- Obesity and Weight RegulationMartin Wabitsch, Malaika Fuchs, Sina Horenburg, Christian Denzer, Julia von Puttkamer, Anja Moß, Georgia Lahr, Pamela Fischer‐Posovszky · 2008 · KARGER eBooks
- Aspectos clínicos e moleculares da hiperplasia adrenal macronodular independente de ACTH em sua forma familialGuilherme Asmar Alencar · 2013
- Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid ResistanceMargarita J. Raygada, Constantine A. Stratakis · 2015 · Elsevier eBooks
- Local Control of Steroid Hormone BiosynthesisJohannes Hofland · 2012 · EUR Research Repository (Erasmus University Rotterdam)
- Role of oxidative stress in the pathogenesis of triple A syndrome and familial glucocorticoid deficiencyRathi Prasad · 2014
- Pathologie des corticosurrénalesM C Raux-Demay · 2010 · EMC - Pédiatrie - Maladies infectieuses
- Primary Adrenal Hypoplasia and ACTH Resistance SyndromesIoannis Kyrou, Constantine Tsigos · 2016 · Elsevier eBooks
- Functional activation of cartilaginous fish melanocortin receptorsChristina L. Reinick · 2011 · Digital Commons - DU (University of Denver)
- Glucocorticoid Deficiency Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as FamilialWiebke Arlt, Jane Green, Jeremy Tomlinson, Nils Peter Krone, Lin Lin, Michael S. Racine, Daniel Maurice Berney, A. Metherell, Danielle Naville, G Halaby et al. · 2009
- Genetic Disorders of Adrenocortical FunctionFady Hannah‐Shmouni, Constantine A. Stratakis · 2016 · Endocrinology
- Impact of Cadmium On The Hypothalamus-Pituitary-Interrenal Axis Function in Rainbow TroutNavdeep Sandhu · 2013 · UWSpace (University of Waterloo)
- Pharmacological characterization and functional rescue of the giant panda and human melanocortin-4 receptorsWei Wang · 2017
- Estresse oxidativo mitocondrial e deficiência familiar de glicocorticoide: caracterização fenotípica e funcional da nova variante p.G866D no gene Nicotinamide Nucleotide Transidrogenase (NNT)Aline Faccioli Bodoni · 2018
- Structure-function relationship of human melanocortin-4 receptor and characterization of fish neural melanocortin receptorsLikun Yang · 2019
- Anterior Pituitary and Pars Intermedia SpaceNicola Romanò, Michael J. Shipston · 2019 · Elsevier eBooks
- Disorders of the Adrenal Cortex in the Fetus and NeonateAhmed Khattab, Mithra L. Narasimhan, Anne Macdonald, Gertrude Costin, Maria I. New · 2019 · Elsevier eBooks
- Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid ResistanceConstantine A. Stratakis · 2010 · Elsevier eBooks
- Adrenocorticotropic HormoneAkiyoshi Takahashi · 2015 · Elsevier eBooks
- Melanocortin receptors in GtoPdb v.2021.3Vanni Caruso, Biaoxin Chai, Adrian Clark, Roger D. Cone, Alex N. Eberlé, I. Sadaf Farooqi, Tung Ming Fong, Ira Gantz, Carrie Haskell‐Luevano, Victor J. Hruby et al. · 2021 · IUPHAR/BPS Guide to Pharmacology CITE
- Faculty Opinions recommendation of Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers.William E. Rainey · 2008 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Adrenal DisordersJoseph Raine, FRCP Malcolm Donaldson, John W. Gregory MBChB, Martin Oswald Savage, Raymond Lauren Hintz · 2006
- Genetics of Adrenal InsufficiencyLi F. Chan, Shwetha Ramachandrappa · 2022
- Genetic Disorders of Adrenocortical FunctionFady Hannah‐Shmouni, Constantine A. Stratakis · 2017 · Endocrinology
- Genetic Disorders of Adrenocortical FunctionFady Hannah‐Shmouni, Constantine A. Stratakis · 2018 · Endocrinology
- Familial glucocorticoid deficiencyClaire H. Hughes, Louise Metherell, Adrian Clark · 2011
- AdrenalsBruno Ferraz‐de‐Souza, Lin Lin, John C. Achermann · 2009 · Yearbook of pediatric endocrinology