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.
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ACTH AntagonistsG protein-coupled receptors: what a difference a 'partner' makesThe cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutantsA single nucleotide polymorphism in the corticotropin receptor gene is associated with a blunted cortisol response during pediatric critical illness.Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2The year in G protein-coupled receptor research.An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).Adrenocorticotropic Hormone (ACTH) Responses Require Actions of the Melanocortin-2 Receptor Accessory Protein on the Extracellular Surface of the Plasma Membrane.The cAMP pathway and the control of adrenocortical development and growthHomozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiencyObservations on the evolution of the melanocortin receptor gene family: distinctive features of the melanocortin-2 receptorIntracellular signaling mechanisms of the melanocortin receptors: current state of the art.ACTH Receptor (MC2R) Specificity: What Do We Know About Underlying Molecular Mechanisms?Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutationsUse of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein."patients can have as many gene variants as they damn well please": why contemporary genetics presents us daily with a version of Hickam's dictum.Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.
P2860
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P2860
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.
description
2008 nî lūn-bûn
@nan
2008年の論文
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2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
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2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
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2008年论文
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name
The majority of adrenocorticot ...... receptor to the cell surface.
@en
The majority of adrenocorticotropin receptor
@nl
type
label
The majority of adrenocorticot ...... receptor to the cell surface.
@en
The majority of adrenocorticotropin receptor
@nl
prefLabel
The majority of adrenocorticot ...... receptor to the cell surface.
@en
The majority of adrenocorticotropin receptor
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P2093
P2860
P50
P356
P1476
The majority of adrenocorticot ...... e receptor to the cell surface
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P2093
P2860
P304
P356
10.1210/JC.2008-1744
P407
P577
2008-10-07T00:00:00Z