Associated Papers
Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.
Bardhan M et al.
Diseases (basel, Switzerland), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
Duan Y et al.
Journal of Medical Genetics, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
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
The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review).
Christophersen MK et al.
International Journal of Molecular Medicine, 2019
ACTH signalling and adrenal development: lessons from mouse models.
Novoselova TV et al.
Endocrine Connections, 2019
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
Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Permuth JB et al.
Human Molecular Genetics, 2016
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Tsai SL et al.
Hormone Research in Paediatrics, 2016
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
ACTH resistance: genes and mechanisms.
Meimaridou E et al.
Endocrine Development, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Short stature in a patient with familial glucocorticoid deficiency.
Mathew RP et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
Chan LF et al.
Clinical 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
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Lin L et al.
Clinical Endocrinology, 2007
The genetics of ACTH resistance syndromes.
Metherell LA et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.
Clark AJ et al.
Trends in Endocrinology and Metabolism: Tem, 2005
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
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.
Génin E et al.
Human Genetics, 2002
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
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
Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.
Wu SM et al.
Molecular Genetics and Metabolism, 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
Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency.
Weber A et al.
Biochemical and Biophysical Research Communications, 1993
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C
Archives of Medical Research, 0