Search Results - "BONDIONI, Sara"

Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib by Mantovani, Giovanna, Bondioni, Sara, Linglart, Agnès, Maghnie, Mohamad, Cisternino, Mariangela, Corbetta, Sabrina, Lania, Andrea G., Beck-Peccoz, Paolo, Spada, Anna

“…Context: Pseudohypoparathyroidism (PHP) types Ia and Ib, are caused by mutations in GNAS exons 1–13 and GNAS methylation defects, respectively. PHP-Ia patients…”
Get full text

Proliferation of transformed somatotroph cells related to low or absent expression of protein kinase A regulatory subunit 1A protein by LANIA, Andrea G, MANTOVANI, Giovanna, BOSARI, Silvano, BECK-PECCOZ, Paolo, SPADA, Anna, FERRERO, Stefano, PELLEGRINI, Caterina, BONDIONI, Sara, PEVERELLI, Erika, BRAIDOTTI, Paola, LOCATELLI, Marco, ZAVANONE, Mario L, FERRANTE, Emanuela

“…The two regulatory subunits (R1 and R2) of protein kinase A (PKA) are differentially expressed in cancer cell lines and exert diverse roles in growth control…”
Get full text

Protein Kinase A Regulatory Subunits in Human Adipose Tissue by Mantovani, Giovanna, Bondioni, Sara, Alberti, Luisella, Gilardini, Luisa, Invitti, Cecilia, Corbetta, Sabrina, Zappa, Marco A., Ferrero, Stefano, Lania, Andrea G., Bosari, Silvano, Beck-Peccoz, Paolo, Spada, Anna

“…Protein Kinase A Regulatory Subunits in Human Adipose Tissue Decreased R2B Expression and Activity in Adipocytes From Obese Subjects Giovanna Mantovani 1 ,…”
Get full text

Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients by Mantovani, Giovanna, de Sanctis, Luisa, Barbieri, Anna Maria, Elli, Francesca M, Bollati, Valentina, Vaira, Valentina, Labarile, Pamela, Bondioni, Sara, Peverelli, Erika, Lania, Andrea G, Beck-Peccoz, Paolo, Spada, Anna

“…Context: The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the…”
Get full text

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling by VANTAGGIATO, Chiara, BONDIONI, Sara, AIROLDI, Giovanni, BOZZATO, Andrea, BORSANI, Giuseppe, RUGARLI, Elena I, BRESOLIN, Nereo, CLEMENTI, Emilio, BASSI, Maria Teresa

“…Senataxin is encoded by the SETX gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral…”
Get full text

novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function by Vantaggiato, Chiara, Redaelli, Francesca, Falcone, Sestina, Perrotta, Cristiana, Tonelli, Alessandra, Bondioni, Sara, Morbin, Michela, Riva, Daria, Saletti, Veronica, Bonaglia, Maria C, Giorda, Roberto, Bresolin, Nereo, Clementi, Emilio, Bassi, Maria T

“…The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal…”
Get full text

The Third Intracellular Loop of the Human Somatostatin Receptor 5 Is Crucial for Arrestin Binding and Receptor Internalization after Somatostatin Stimulation by Peverelli, Erika, Mantovani, Giovanna, Calebiro, Davide, Doni, Andrea, Bondioni, Sara, Lania, Andrea, Beck-Peccoz, Paolo, Spada, Anna

“…Somatostatin (SS) is a widely distributed polypeptide that exerts inhibitory effects on hormone secretion and cell proliferation by interacting with five…”
Get full text

Protein Kinase A Regulatory Subunits in Human Adipose Tissue : Decreased R2B Expression and Activity in Adipocytes From Obese Subjects by MANTOVANI, Giovanna, BONDIONI, Sara, BECK-PECCOZ, Paolo, SPADA, Anna, ALBERTI, Luisella, GILARDINI, Luisa, INVITTI, Cecilia, CORBETTA, Sabrina, ZAPPA, Marco A, FERRERO, Stefano, LANIA, Andrea G, BOSARI, Silvano

“…In human adipocytes, the cAMP-dependent pathway mediates signals originating from beta-adrenergic activation, thus playing a key role in the regulation of…”
Get full text

Biallelic Expression of the Gsα Gene in Human Bone and Adipose Tissue by Mantovani, Giovanna, Bondioni, Sara, Locatelli, Marco, Pedroni, Cecilia, Lania, Andrea G., Ferrante, Emanuele, Filopanti, Marcello, Beck-Peccoz, Paolo, Spada, Anna

“…Mutations of the Gsα gene inherited from the mother lead to pseudohypoparathyroidism (PHP) type Ia (PHP Ia), in which Albright’s hereditary osteodistrophy is…”
Get full text

Parental Origin of Gsα Mutations in the McCune-Albright Syndrome and in Isolated Endocrine Tumors by Mantovani, Giovanna, Bondioni, Sara, Lania, Andrea G., Corbetta, Sabrina, de Sanctis, Luisa, Cappa, Marco, Di Battista, Eliana, Chanson, Philippe, Beck-Peccoz, Paolo, Spada, Anna

“…Activating mutations of the Gsα gene are detected in different endocrine tumors, such as GH-secreting adenomas and toxic thyroid adenomas, and in…”
Get full text

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients by Mantovani, Giovanna, De Menis, Ernesto, Borretta, Giorgio, Radetti, Giorgio, Bondioni, Sara, Spada, Anna, Persani, Luca, Beck-Peccoz, Paolo

“…Objective: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC). Affected boys usually present…”
Get full text

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin by Airoldi, Giovanni, Guidarelli, Andrea, Cantoni, Orazio, Panzeri, Chris, Vantaggiato, Chiara, Bonato, Sara, Grazia D’Angelo, Maria, Falcone, Sestina, De Palma, Clara, Tonelli, Alessandra, Crimella, Claudia, Bondioni, Sara, Bresolin, Nereo, Clementi, Emilio, Bassi, Maria Teresa

“…Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy, oculomotor apraxia, early loss…”
Get full text

Effect of 9-cis retinoic acid on dopamine D2 receptor expression in pituitary adenoma cells by Bondioni, Sara, Angioni, Anita R, Corbetta, Sabrina, Locatelli, Marco, Ferrero, Stefano, Ferrante, Emanuele, Mantovani, Giovanna, Olgiati, Luca, Beck-Peccoz, Paolo, Spada, Anna, Lania, Andrea G

“…The dopamine receptor subtype 2 (D2R) promoter contains a functional retinoic acid response element involved in the control of D2R expression. The aim of the…”
Get more information

Ghrelin and adiponectin in patients with Cushing's disease before and after successful transsphenoidal surgery by Libè, Rossella, Morpurgo, Paola Silvia, Cappiello, Vincenzo, Maffini, Antonia, Bondioni, Sara, Locatelli, Marco, Zavanone, Mario, Beck-Peccoz, Paolo, Spada, Anna

“…Summary background  Ghrelin, an endogenous ligand of the GH secretagogue receptor that exerts orexigenic activity, is negatively correlated with body mass…”
Get full text

Biallelic expression of the Gsalpha gene in human bone and adipose tissue by Mantovani, Giovanna, Bondioni, Sara, Locatelli, Marco, Pedroni, Cecilia, Lania, Andrea G, Ferrante, Emanuele, Filopanti, Marcello, Beck-Peccoz, Paolo, Spada, Anna

“…Mutations of the Gsalpha gene inherited from the mother lead to pseudohypoparathyroidism (PHP) type Ia (PHP Ia), in which Albright's hereditary osteodistrophy…”
Get full text

Parental Origin of G s α Mutations in the McCune-Albright Syndrome and in Isolated Endocrine Tumors by Mantovani, Giovanna, Bondioni, Sara, Lania, Andrea G., Corbetta, Sabrina, de Sanctis, Luisa, Cappa, Marco, Di Battista, Eliana, Chanson, Philippe, Beck-Peccoz, Paolo, Spada, Anna

Get full text

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors by Mantovani, Giovanna, Bondioni, Sara, Lania, Andrea G, Corbetta, Sabrina, de Sanctis, Luisa, Cappa, Marco, Di Battista, Eliana, Chanson, Philippe, Beck-Peccoz, Paolo, Spada, Anna

“…Activating mutations of the Gsalpha gene are detected in different endocrine tumors, such as GH-secreting adenomas and toxic thyroid adenomas, and in…”
Get full text

Expression of the two alternatively spliced PRKAR1A RNAs in human endocrine glands by Peverelli, Erika, Mantovani, Giovanna, Bondioni, Sara, Pellegrini, Caterina, Bosari, Silvano, Lania, Andrea G., Beck-Peccoz, Paolo, Spada, Anna

“…Heterozygous loss of function mutations in human PKAR1A gene ( PRKAR1A) have been identified in patients with Carney complex (CNC), an autosomal dominant…”
Get full text