Familial glucocorticoid deficiency: New genes and mechanisms

60 YEARS OF POMC: Adrenal and extra-adrenal functions of ACTH

Gallo‐Payet1 2016Journal of Molecular Endocrinology892580Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…Mutations in the MC2R gene are responsible for 25% of familial glucocorticoid deficiency (FGD) and mutations in the MRAP gene, encoding the MC2R accessory protein MRAP, are responsible for 20% of FGD (Meimaridou et al 2013, Jackson et al 2015. FGD is an autosomal recessive disorder resulting in cortisol deficiency, due to resistance of the adrenal cortex to the action of ACTH. …”Section: Pathological Consequences Of Mc2r Deficiency For the Adrenalmentioningconfidence: 99%“…After the discovery of the causative role of MRAP1 in FDG, more recent studies also identified another protein from the same family, MRAP2, which seems to be linked to obesity (Meimaridou et al 2013, Jackson et al 2015. Finally, it is important to consider extrapituitary production of ACTH. …”Section: Adrenocortical Pathologies Associated With Defective Signalimentioningconfidence: 99%

60 YEARS OF POMC: Adrenal and extra-adrenal functions of ACTH

Gallo‐Payet1 2016Journal of Molecular Endocrinology892580Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD) VSports app下载. Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…In addition, patients suffer from failure to thrive, hypoglycemia, severe infections and fatigue. To date, the underlying genetic disorder is known in approximately 70% of patients with FGD [28]. The most common type is caused by a defect in the ACTH receptor MC2R, which is a 7-membrane G-protein coupled receptor located (almost) exclusively in the adrenocortical cells [29]. …”Section: Causes Of Paimentioningconfidence: 99%

Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency

Malíková1, Flück2 2014Horm Res Paediatr391390Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…Since the mutations in MC2R, MRAP, and STAR have been found in ca. 50% of patients with FGD, and the mutation of MCM4 is extremely rare [1], it is inferred that NNT mutations account for 5-10% of FGD patients, and that underlying factor(s) still remain to be clarified in a substantial fraction of FGD patients. …”Section: Disclosure Summarymentioningconfidence: 99%

VSports最新版本 - A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Yamaguchi1, Kato2, Hasegawa3 et al. 2013Endocr J242160Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Scite is an AI-powered research tool that helps researchers better discover and evaluate scientific literature through Smart Citations—a revolutionary system that shows whether articles support, contrast, or simply mention a given claim. Founded in 2018, and now part of Research Solutions, Scite has indexed over 1. 4 billion citations and partnered with more than 30 major publishers to provide researchers with unparalleled access to scientific literature. With its Scite Assistant, Smart Citation Index, and advanced search capabilities, the platform addresses critical challenges such as information overload and research reproducibility. Trusted by two million active users worldwide, Scite is reshaping how researchers interact with scholarly content—building ethical, transparent AI tools that support rigorous, copyright-compliant research.