Associated Papers
Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.
Bardhan M et al.
Diseases (basel, Switzerland), 2025
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.
Maleknejad S et al.
International Journal of Endocrinology, 2024
[Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene].
Gao J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I et al.
Journal of the Endocrine Society, 2022
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
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
Familial glucocorticoid deficiency type 2: a case report.
Akın L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2010
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
Kim CJ et al.
Journal of Korean Medical Science, 2009
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
Functional expression of the human ACTH receptor gene.
Penhoat A et al.
Endocrine Research, 2000
Tall stature in familial glucocorticoid deficiency.
Elias LL et al.
Clinical Endocrinology, 2000
Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.
Ishii T et al.
Clinical Endocrinology, 2000
Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.
Elias LL et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Archives of Medical Research, 0
Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients.
Berberoğlu M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0