Search Results - "MANTOVANI, Giovanna"
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Pseudohypoparathyroidism: Diagnosis and Treatment
Published in The journal of clinical endocrinology and metabolism (01-10-2011)“…Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of…”
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Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
Published in Endocrine (01-06-2021)“…Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G…”
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Adrenal Insufficiency at the Time of COVID-19: A Retrospective Study in Patients Referring to a Tertiary Center
Published in The journal of clinical endocrinology and metabolism (08-03-2021)“…Abstract Context Coronavirus disease 2019 (COVID-19) represents a global health emergency, and infected patients with chronic diseases often present with a…”
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Drug resistance in pituitary tumours: from cell membrane to intracellular signalling
Published in Nature reviews. Endocrinology (01-09-2021)“…The pharmacological treatment of pituitary tumours is based on the use of stable analogues of somatostatin and dopamine. The analogues bind to somatostatin…”
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The macrophage tetraspan MS4A4A enhances dectin-1-dependent NK cell–mediated resistance to metastasis
Published in Nature immunology (01-08-2019)“…The plasma membrane tetraspan molecule MS4A4A is selectively expressed by macrophage-lineage cells, but its function is unknown. Here we report that MS4A4A was…”
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The association of hypogonadism with depression and its treatments
Published in Frontiers in endocrinology (Lausanne) (10-08-2023)“…According to World Health Organization estimates, 5% of the adult population worldwide suffers from depression. In addition to the affective, psychomotor and…”
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Bone health in functional hypothalamic amenorrhea: What the endocrinologist needs to know
Published in Frontiers in endocrinology (Lausanne) (11-10-2022)“…In the original definition by Klinefelter, Albright and Griswold, the expression “hypothalamic hypoestrogenism” was used to describe functional hypothalamic…”
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Multiple hormone resistance and alterations of G-protein-coupled receptors signaling
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01-04-2018)“…Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone…”
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The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
Published in The journal of clinical endocrinology and metabolism (01-10-2016)“…Context: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH),…”
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Filamin A organizes γ‑aminobutyric acid type B receptors at the plasma membrane
Published in Nature communications (03-01-2023)“…The γ-aminobutyric acid type B (GABA B ) receptor is a prototypical family C G protein-coupled receptor (GPCR) that plays a key role in the regulation of…”
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A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
Published in Orphanet journal of rare diseases (23-02-2022)“…GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding…”
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Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas
Published in European journal of endocrinology (02-08-2023)“…Abstract Objective We aimed to evaluate the prevalence of armadillo repeat-containing 5 (ARMC5) genetic defects in our cohort of bilateral adrenal…”
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Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01-12-2018)“…Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of…”
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Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas
Published in European journal of endocrinology (01-03-2016)“…ContextAlterations in the cAMP signaling pathway are common in hormonally active endocrine tumors. Somatic mutations at GNAS are causative in 30–40% of…”
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USP8 inhibitor RA-9 reduces ACTH release and cell growth in tumor corticotrophs
Published in Endocrine-related cancer (01-08-2021)“…Cushing’s disease (CD) is a rare endocrine disorder caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Pasireotide is the only…”
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DXA-derived lumbar bone strain index corrected for kyphosis is associated with vertebral fractures and trabecular bone score in acromegaly
Published in Endocrine (01-09-2024)“…Purpose The bone strain index (BSI) is a marker of bone deformation based on a finite element analysis inferred from dual X-ray absorptiometry (DXA) scans,…”
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SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Published in Orphanet journal of rare diseases (19-06-2023)“…Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease…”
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Mutations in the Gs alpha gene causing hormone resistance
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01-12-2006)“…G-protein-coupled receptors (GPCRs) and G proteins mediate the effects of a number of hormones of relevance to endocrinology. Genes encoding these molecules…”
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The Novel SSTR3 Agonist ITF2984 Exerts Antimitotic and Proapoptotic Effects in Human Non-Functioning Pituitary Neuroendocrine Tumor (NF-PitNET) Cells
Published in International journal of molecular sciences (01-04-2024)“…Somatostatin receptor ligands (SRLs) with high affinity for somatostatin receptors 2 and 5 (SSTR2 and SSTR5) are poorly efficacious in NF-PitNETs, expressing…”
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cAMP in the pituitary: an old messenger for multiple signals
Published in Journal of molecular endocrinology (01-02-2014)“…The cyclic nucleotide cAMP is a universal regulator of a variety of cell functions in response to activated G-protein coupled receptors. In particular, cAMP…”
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