Post-COVID-19 sequelae are associated with sustained SARS-CoV-2-specific CD4+ immune responses

Authors: Venegoni, Chiara ^{a, b}, Raineri, Davide ^{a, b}, Mazzucca, Camilla Barbero ^{a, b}, Ghazanfar, Ali ^{a, b}, Cappellano, Giuseppe ^{a, b}, Baricich, Alessio ^c, Patrucco, Filippo ^{c, d}, Zeppegno, Patrizia ^{c, d}, Gramaglia, Carla ^{c, d}, Balbo, Piero Emilio ^d, Cantaluppi, Vincenzo ^{c, d}, Patti, Giuseppe ^{c, d}, Giordano, Mara ^{a, d}, Manfredi, Marcello ^{b, c}, Rolla, Roberta ^{a, c}, Sainaghi, Pier Paolo ^{b, c, d}, Pirisi, Mario ^{b, c}, Bellan, Mattia ^{b, c, d}, Chiocchetti, Annalisa ^{a, b, ⁎}

Source: In International Immunopharmacology 20 February 2025 148

Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A

Authors: Famà, Rosella, Borroni, Ester, Zanolini, Diego, Merlin, Simone, Bruscaggin, Valentina, Walker, Gillian E., Olgasi, Cristina, Babu, Deepak, Agnelli Giacchello, Jacopo, Valeri, Federica, Giordano, Mara, Borchiellini, Alessandra, Follenzi, Antonia ^*

Source: In Journal of Thrombosis and Haemostasis May 2020 18(5):1050-1064

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Authors: Rapini, Novella, Delvecchio, Maurizio, Mucciolo, Mafalda, Ruta, Rosario, Rabbone, Ivana, Cherubini, Valentino, Zucchini, Stefano, Cianfarani, Stefano, Prandi, Elena, Schiaffini, Riccardo, Bizzarri, Carla, Piccini, Barbara, Maltoni, Giulio, Predieri, Barbara, Minuto, Nicola, Paola, Rossella Di, Giordano, Mara, Tinto, Nadia, Grasso, Valeria, Russo, Lucia

Source: Journal of Clinical Endocrinology & Metabolism; Sep2024, Vol. 109 Issue 9, p2349-2357, 9p

Subject Terms: PANCREATIC enzymes, MOLECULAR genetics, INSULIN resistance, DIABETES, NUCLEOTIDE sequencing

Genetic causes of isolated and combined pituitary hormone deficiency

Authors: Giordano, Mara

Source: In Best Practice & Research Clinical Endocrinology & Metabolism December 2016 30(6):679-691

Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation.

Authors: Cumitini, Luca, Renda, Giulia, Giordano, Mara, Rolla, Roberta, Shail, Tarek, Sacchetti, Sara, Iezzi, Lorena, Giacomini, Luca, Zanotti, Valentina, Auciello, Raffaella, Angilletta, Ilaria, Foglietta, Melissa, Zucchelli, Mirco, Antonucci, Ivana, Stuppia, Liborio, Gallina, Sabina, Dianzani, Umberto, Patti, Giuseppe

Source: Journal of Clinical Medicine; May2024, Vol. 13 Issue 9, p2545, 14p

Subject Terms: DABIGATRAN, ATRIAL fibrillation, GENETIC polymorphisms, P-glycoprotein, SINGLE nucleotide polymorphisms, THROMBIN time, DOSE-response relationship (Radiation)

Research into New Molecular Mechanisms in Thrombotic Diseases Paves the Way for Innovative Therapeutic Approaches.

Authors: Sacchetti, Sara, Puricelli, Chiara, Mennuni, Marco, Zanotti, Valentina, Giacomini, Luca, Giordano, Mara, Dianzani, Umberto, Patti, Giuseppe, Rolla, Roberta

Source: International Journal of Molecular Sciences; Mar2024, Vol. 25 Issue 5, p2523, 25p

Subject Terms: THERAPEUTICS, BLOOD platelet activation, ENDOTHELIAL cells, INFLAMMATORY mediators, CELLULAR signal transduction, BLOOD coagulation factors, BLOOD platelet aggregation

Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients.

Authors: Gironi, Laura Cristina, Esposto, Elia, Zottarelli, Francesca, Giorgione, Roberto, Farinelli, Pamela, Zavattaro, Elisa, Cammarata, Edoardo, Di Cristo, Nunzia, Ogliarad, Paola, Camillo, Lara, Giordano, Mara, Mellone, Simona, Pasini, Barbara, Ambrosi, Alessandro, Savoia, Paola

Source: Melanoma Research; Oct2023, Vol. 33 Issue 5, p425-430, 6p

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

Authors: Mancioppi, Valentina, Daffara, Tommaso, Romanisio, Martina, Ceccarini, Giovanni, Pelosini, Caterina, Santini, Ferruccio, Bellone, Simonetta, Mellone, Simona, Baricich, Alessio, Rabbone, Ivana, Aimaretti, Gianluca, Akinci, Baris, Giordano, Mara, Prodam, Flavia

Source: Frontiers in Endocrinology; 2023, p1-11, 11p

Subject Terms: LIPODYSTROPHY, ADIPOSE tissues, GENETIC mutation, SUPRAVENTRICULAR tachycardia, FACIOSCAPULOHUMERAL muscular dystrophy, FAT, NEMALINE myopathy, LEPTIN

Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination

Authors: Cugno, Massimo, Macor, Paolo, Giordano, Mara, Manfredi, Marcello, Griffini, Samantha, Grovetti, Elena, De Maso, Luca, Mellone, Simona, Valenti, Luca, Prati, Daniele, Bonato, Sara, Comi, Giacomo, Artoni, Andrea, Meroni, Pier Luigi, Peyvandi, Flora

Source: In Journal of Autoimmunity November 2021 124

Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants.

Authors: Mancioppi, Valentina, Pozzi, Erica, Zanetta, Sara, Missineo, Anna, Savastio, Silvia, Barbetti, Fabrizio, Mellone, Simona, Giordano, Mara, Rabbone, Ivana

Source: Frontiers in Endocrinology; 2023, p1-7, 7p

Subject Terms: INSULIN pumps, HYPOGLYCEMIC sulfonylureas, SULFONYLUREAS, PEOPLE with diabetes, GLYCOSYLATED hemoglobin, HYPERGLYCEMIA

Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors.

Authors: Apostolo, Daria, D'Onghia, Davide, Tonello, Stelvio, Minisini, Rosalba, Baricich, Alessio, Gramaglia, Carla, Patrucco, Filippo, Zeppegno, Patrizia, Acquaviva, Antonio, Balbo, Piero Emilio, Castello, Luigi Mario, Cappellano, Giuseppe, Chiocchetti, Annalisa, Gerevini, Chiara, Giordano, Mara, Laaguid, Fatiha, Manfredi, Marcello, Raineri, Davide, Rigamonti, Cristina, Rolla, Roberta

Source: International Journal of Molecular Sciences; Apr2023, Vol. 24 Issue 7, p6257, 10p

Subject Terms: BALDNESS, COVID-19, LOGISTIC regression analysis, HOSPITAL admission & discharge, CARBOXYHEMOGLOBIN, LUNG volume measurements

Genes and Microbiota Interaction in Monogenic Autoimmune Disorders.

Authors: Costa, Federica, Beltrami, Eleonora, Mellone, Simona, Sacchetti, Sara, Boggio, Elena, Gigliotti, Casimiro Luca, Stoppa, Ian, Dianzani, Umberto, Rolla, Roberta, Giordano, Mara

Source: Biomedicines; Apr2023, Vol. 11 Issue 4, p1127, 24p

Subject Terms: IMMUNOLOGICAL tolerance, AUTOIMMUNE diseases, SYMPTOMS, RARE diseases, GENES, PREVENTIVE medicine

Platelets, Protean Cells with All-Around Functions and Multifaceted Pharmacological Applications.

Authors: Puricelli, Chiara, Boggio, Elena, Gigliotti, Casimiro Luca, Stoppa, Ian, Sutti, Salvatore, Giordano, Mara, Dianzani, Umberto, Rolla, Roberta

Source: International Journal of Molecular Sciences; Mar2023, Vol. 24 Issue 5, p4565, 31p

Subject Terms: CELL physiology, BLOOD platelets, ERYTHROCYTES, BLOOD coagulation factors, DRUG delivery systems, REGENERATIVE medicine, THROMBOEMBOLISM, EXTRACELLULAR vesicles, PLATELET-rich plasma

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.

Authors: Mellone, Simona, Bertelli, Enrica, Roviglione, Barbara, Vurchio, Denise, Ronzani, Sara, Secco, Andrea, Felici, Enrico, Strozzi, Mariachiara Martina, Schena, Federico, Giordano, Mara

Source: Genes; Dec2022, Vol. 13 Issue 12, p2190, 10p

Subject Terms: ADRENOGENITAL syndrome, SEX differentiation disorders, VULVA, NEWBORN infants, ADRENAL glands, ADRENAL cortex, MALE reproductive organs

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution

Authors: Castelli, Luca, Comi, Cristoforo, Chiocchetti, Annalisa, Nicola, Stefania, Mesturini, Riccardo, Giordano, Mara, D'Alfonso, Sandra, Cerutti, Elisa, Galimberti, Daniela, Fenoglio, Chiara, Tesser, Fabiana, Yagi, Junji, Rojo, José Maria, Perla, Franco, Leone, Maurizio, Scarpini, Elio, Monaco, Francesco, Dianzani, Umberto

Source: In Journal of Neuroimmunology 2007 186(1):193-198

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity

Authors: Giordano, Mara, Godi, Michela, Giacopelli, Francesca, Lessi, Monica, Mellone, Simona, Paracchini, Roberta, Petri, Antonella, Bellone, Jaele, Ravazzolo, Roberto, Bona, Gianni, Momigliano-Richiardi, Patricia

Source: In Molecular and Cellular Endocrinology 25 April 2006 249(1-2):51-57

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood

Authors: Caputo, Marina, Mele, Chiara, Zavattaro, Marco, Samà, Maria Teresa, Giordano, Mara, Umari, Paolo, Volpe, Alessandro, Aimaretti, Gianluca, Prodam, Flavia

Source: In Urology July 2019 129:68-70

Osteopontin gene haplotypes correlate with multiple sclerosis development and progression

Authors: Chiocchetti, Annalisa, Comi, Cristoforo, Indelicato, Manuela, Castelli, Luca, Mesturini, Riccardo, Bensi, Thea, Mazzarino, Maria C., Giordano, Mara, D'Alfonso, Sandra, Momigliano-Richiardi, Patricia, Liguori, Maria, Zorzon, Marino, Amoroso, Antonio, Trojano, Maria, Monaco, Francesco, Leone, Maurizio, Magnani, Corrado, Dianzani, Umberto

Source: In Journal of Neuroimmunology 2005 163(1):172-178

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Authors: Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara

Source: Frontiers in Genetics; 8/11/2022, Vol. 13, p1-11, 11p

Subject Terms: MOLECULAR diagnosis, AUTISM spectrum disorders, MOVEMENT disorders, NEURAL development, CHILDREN with autism spectrum disorders, LANGUAGE disorders

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

Authors: Giordano, Mara¹, Muratore, Valentina², Babu, Deepak¹, Meazza, Cristina², Bozzola, Mauro² mauro.bozzola@unipv.it

Source: Molecular Cytogenetics (17558166). 12/3/2016, Vol. 9, p1-6. 6p.

Subject Terms: *COACH syndrome, *PITUITARY dwarfism, *BOYS, *GENETICS, *DISEASES