Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Silvia Borghini, Sara Tassi, Sabrina Chiesa, +16

Arthritis & Rheumatism

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Tiziana Bachetti, Ivana Matera, Silvia Borghini, +3

Human Molecular Genetics

GeneticsDistinct Pathogenetic MechanismsTranscriptional RegulationAbnormal DevelopmentNeurogenetics +16

The <i>TLX2</i> homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

Silvia Borghini, Tiziana Bachetti, Monica Fava, +5

Biochemical Journal

Transcriptional RegulationSystems BiologyDevelopmental BiologyPhox2b GenesBone Morphogenic Protein +13

PHOX2B-Mediated Regulation of ALK Expression: In Vitro Identification of a Functional Relationship between Two Genes Involved in Neuroblastoma

Tiziana Bachetti, Daniela Di Paolo, Simona Di Lascio, +13

PLoS ONE

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization

Denise Lasigliè, Anna Mensa‐Vilaró, Denise Ferrera, +24

The Journal of Rheumatology

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions

Tiziana Bachetti, Paola Bocca, Silvia Borghini, +4

The International Journal of Biochemistry & Cell Biology

Nuclear LocalisationBiochemistryNatural SciencesProtein BiosynthesisPolyalanine Expansions +5

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Monica Fava, Silvia Borghini, R. Cinti, +8

PubMed

GeneticsGastroenterologyPathologyDisease Gene IdentificationIntestinal Neuronal Dysplasia +14

An In Vitro Approach to Test the Possible Role of Candidate Factors in the Transcriptional Regulation of the &lt;I&gt;RET&lt;/I&gt; Proto-Oncogene

Tiziana Bachetti, Silvia Borghini, Roberto Ravazzolo, +1

Gene Expression

Neural Crest CellsGeneticsGene Regulatory NetworkGene TranscriptionCell Specialization +16

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes

Silvia Borghini, Marco Di Duca, Giuseppe Santamaria, +11

European Journal of Human Genetics

Transcriptional RegulationPhox2b GenesDevelopmental BiologySignal TransductionGene Regulation +9

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors

Arinna Bertoni, Sonia Carta, Chiara Baldovini, +17

Journal of Allergy and Clinical Immunology

Neurodegenerative DiseasesAlzheimer's DiseaseBiochemistryMedicineProton Pump Inhibitors +7