Cargando…

Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant

SIMPLE SUMMARY: Cushing’s Disease (CD) is a rare but severe endocrine disorder due to an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor, and pathogenetics remained a puzzling issue for a long time. The recent identification of somatic mutations in the 14-3-3 protein binding motif of ub...

Descripción completa

Detalles Bibliográficos
Autores principales:	Treppiedi, Donatella, Barbieri, Anna Maria, Di Muro, Genesio, Marra, Giusy, Mangili, Federica, Catalano, Rosa, Esposito, Emanuela, Ferrante, Emanuele, Serban, Andreea Liliana, Locatelli, Marco, Lania, Andrea Gerardo, Spada, Anna, Arosio, Maura, Peverelli, Erika, Mantovani, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392476/ https://www.ncbi.nlm.nih.gov/pubmed/34439178 http://dx.doi.org/10.3390/cancers13164022

Ejemplares similares

P720R USP8 Mutation Is Associated with a Better Responsiveness to Pasireotide in ACTH-Secreting PitNETs
por: Treppiedi, Donatella, et al.
Publicado: (2022)

A Novel Mechanism Regulating Dopamine Receptor Type 2 Signal Transduction in Pituitary Tumoral Cells: The Role of cAMP/PKA-Induced Filamin A Phosphorylation
por: Mangili, Federica, et al.
Publicado: (2021)

DRD2 Agonist Cabergoline Abolished the Escape Mechanism Induced by mTOR Inhibitor Everolimus in Tumoral Pituitary Cells
por: Mangili, Federica, et al.
Publicado: (2022)

PMON171 DRD2 Agonist Cabergoline Abolished the Escape Mechanism Induced by mTOR Inhibitor Everolimus in Pituitary Neuroendocrine Tumoral Cells
por: Mangili, Federica, et al.
Publicado: (2022)

A β-Arrestin 2-Biased Dopamine Receptor Type 2 (DRD2) Agonist Is More Efficacious Than Cabergoline in Reducing Cell Proliferation in PRL-Secreting but Not in Non-Functioning Pituitary Tumor Cells
por: Di Muro, Genesio, et al.
Publicado: (2023)

TMPRSS2 Expression and Activity Modulation by Sex-Related Hormones in Lung Calu-3 Cells: Impact on Gender-Specific SARS-CoV-2 Infection
por: Treppiedi, Donatella, et al.
Publicado: (2022)

SAT-312 Beta-Arrestin 2 Is Required for Dopamine Receptor Type 2 Inhibitory Effects on Akt Phosphorylation and Cell Proliferation in Pituitary Tumors
por: Mangili, Federica, et al.
Publicado: (2020)

Dimerization of GPCRs: Novel insight into the role of FLNA and SSAs regulating SST(2) and SST(5) homo- and hetero-dimer formation
por: Treppiedi, Donatella, et al.
Publicado: (2022)

Stem Cells in Pituitary Tumors: Experimental Evidence Supporting Their Existence and Their Role in Tumor Clinical Behavior
por: Mantovani, Giovanna, et al.
Publicado: (2019)

SAT-566 Cofilin Is a Mediator of RET-Promoted Medullary Thyroid Carcinoma Cell Migration, Invasion and Proliferation
por: Peverelli, Erika, et al.
Publicado: (2019)

MON-465 SST2 Trafficking Through The Cytoskeleton: Role Of Scaffolding Proteins Filamin A And β-arrestin 2
por: Treppiedi, Donatella, et al.
Publicado: (2019)

SUN-213 The Role of Filamin A (FLNA) in the Regulation of Insulin-Like Growth Factor System in Adrenocortical Carcinomas
por: Peverelli, Erika, et al.
Publicado: (2020)

Role of filamin A in the pathogenesis of neuroendocrine tumors and adrenal cancer
por: Treppiedi, Donatella, et al.
Publicado: (2022)

Molecular mechanisms involved in somatostatin receptor regulation in corticotroph tumors: the role of cytoskeleton and USP8 mutations
por: Peverelli, Erika, et al.
Publicado: (2022)

Dopamine and Somatostatin Analogues Resistance of Pituitary Tumors: Focus on Cytoskeleton Involvement
por: Peverelli, Erika, et al.
Publicado: (2015)

Case Report: A Challenging Localization of a Pulmonary Ectopic ACTH-Secreting Tumor in a Patient With Severe Cushing’s Syndrome
por: Serban, Andreea Liliana, et al.
Publicado: (2021)

Reevaluation of Acromegalic Patients in Long-Term Remission according to Newly Proposed Consensus Criteria for Control of Disease
por: Verrua, Elisa, et al.
Publicado: (2014)

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases
por: Elli, Francesca Marta, et al.
Publicado: (2018)

Tolvaptan in the Management of Acute Euvolemic Hyponatremia After Transsphenoidal Surgery: A Retrospective Single-Center Analysis
por: Indirli, Rita, et al.
Publicado: (2021)

ACTH Secreting Pituitary Tumours
por: Nabarro, J. D. N.
Publicado: (1977)

Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report
por: Bao, Xu-dong, et al.
Publicado: (2022)

OR24-06 USP8 Genetic Variants May Contribute to the Development of Bilateral Adrenal Hyperplasia and ACTH-Independent Cushing Syndrome
por: Settas, Nikolaos, et al.
Publicado: (2020)

Procoagulant Imbalance in Klinefelter Syndrome Assessed by Thrombin Generation Assay and Whole-Blood Thromboelastometry
por: Indirli, Rita, et al.
Publicado: (2020)

Pancreatic ACTH Hypersecretion and Pituitary Macroadenoma
por: Bettale, Chiara M, et al.
Publicado: (2023)

Bone health in functional hypothalamic amenorrhea: What the endocrinologist needs to know
por: Indirli, Rita, et al.
Publicado: (2022)

The association of hypogonadism with depression and its treatments
por: Indirli, Rita, et al.
Publicado: (2023)

Cabergoline Withdrawal Before and After Menopause: Outcomes in Microprolactinomas
por: Indirli, Rita, et al.
Publicado: (2019)

ACTH Stimulation Test for the Diagnosis of Secondary Adrenal Insufficiency: Light and Shadow
por: Birtolo, Maria Francesca, et al.
Publicado: (2023)

COVID-19 in Cushing disease: experience of a single tertiary centre in Lombardy
por: Serban, A. L., et al.
Publicado: (2020)

Perioperative serum cortisol levels in ACTH sufficient and ACTH deficient patients during transsphenoidal surgery of pituitary adenoma
por: Borg, Henrik, et al.
Publicado: (2018)

Progression of an Invasive ACTH Pituitary Macroadenoma with Cushing's Disease to Pituitary Carcinoma
por: Borba, Clarissa Groberio, et al.
Publicado: (2015)

Pituitary vascularity and ACTH release in rats with hypothalamic lesions.
por: Upton, G. V., et al.
Publicado: (1968)

Anterior Pituitary Transcriptome Suggests Differences in ACTH Release in Tame and Aggressive Foxes
por: Hekman, Jessica P., et al.
Publicado: (2018)

Evaluation of procoagulant imbalance in Cushing’s syndrome after short- and long-term remission of disease
por: Ferrante, E., et al.
Publicado: (2021)

MON-409 Ectopic ACTH Syndrome with a Pituitary Mass
por: Lake, Julia, et al.
Publicado: (2019)

From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective
por: Ghaddhab, Chiraz, et al.
Publicado: (2017)

ACTH Antagonists
por: Clark, Adrian John, et al.
Publicado: (2016)

ODP618 The profile of patients with ACTH-secreting pituitary adenomas and subclinical pituitary apoplexy
por: Tatsi, Christina, et al.
Publicado: (2022)

A Rare SPRY4 Gene Mutation Is Associated With Anosmia and Adult-Onset Isolated Hypogonadotropic Hypogonadism
por: Indirli, Rita, et al.
Publicado: (2019)

ICA Occlusion by an ACTH-secreting pituitary adenoma post-TSS and irradiation
por: El-Zammar, Diala, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_lmua3nott6541r4eu5sbo4s6k7