Associated Papers
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I et al.
Journal of the Endocrine Society, 2022
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K et al.
Frontiers in Endocrinology, 2019
[Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome].
Delmas O et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.
Hirsch A et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
Aza-Carmona M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF et al.
Hormone Research, 2008
Adrenocorticotropin resistance syndromes.
Cooray SN et al.
Endocrine Development, 2008
Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.
Chen M et al.
Biochemistry, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
Selva KA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.
Flück CE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.
Penhoat A et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.
Ishii T et al.
Clinical Endocrinology, 2000
Molecular characterization of the melanin-concentrating hormone/receptor complex: identification of critical residues involved in binding and activation.
Macdonald D et al.
Molecular Pharmacology, 2000
ACTH receptor mutation in a girl with familial glucocorticoid deficiency.
Slavotinek AM et al.
Clinical Genetics, 1998
Familial glucocorticoid deficiency: one syndrome, but more than one gene.
Clark AJ et al.
Journal of Molecular Medicine (berlin, Germany), 1997
Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase.
Naville D et al.
Molecular and Cellular Endocrinology, 1997
Characterization of the human ACTH receptor gene and in vitro expression.
Naville D et al.
Endocrine Research, 1996
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.
Naville D et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency].
Naville D et al.
Annales D'endocrinologie, 1996
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Archives of Medical Research, 0