Associated Papers
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I et al.
Journal of the Endocrine Society, 2022
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
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
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
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