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
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF et al.
European Journal of Endocrinology, 2009
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 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
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
[Familial glucocorticoid deficiency due to the ACTH receptor gene mutations].
Katsumata N
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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
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
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
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche.
Weber A et al.
Clinical Endocrinology, 1997
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.
Weber A et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.
Weber A et al.
Human Molecular Genetics, 1994
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Archives of Medical Research, 0