Francesca Puppo

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Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of(More)
The pseudo tyrosine kinase receptor 7 (PTK7) is an orphan tyrosine kinase receptor assigned to the planar cell polarity pathway. It plays a major role during embryogenesis and epithelial tissue organization. Here we found that PTK7 is also expressed in normal myeloid progenitors and CD34(+) CD38(-) bone marrow cells in humans. We performed an(More)
Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts. Constitutive inactivation of the protocadherin gene Fat1 uncoupled individual myoblast polarity within chains, altering the shape of selective groups of muscles in(More)
OBJECTIVE We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and could not thus far be correlated with disease presence or severity. METHODS To investigate the link between clinical signs of FSHD and DNA methylation, we(More)
—We present a novel circuit for the automated and quick characterization of an array of experimental memristive nanowires that are functionalized as biosensors. Successfully functionalized nanowires will express the concentration of target molecules by hysteretic gaps of the zero crossing of their mem-ristive I/V characteristics as the voltage across them(More)
— In this paper, a complete study is carried out investigating the relationship between the biosensing and the electrical characteristics of freestanding two-terminal Schottky-barrier silicon nanowires. This paper successfully reproduces computationally the electrical behavior obtained experimentally from the nanowire devices before and after the surface(More)
RET gene expression is characterized by high tissue and stage specificity during the development of neural crest derivatives and in the pathogenesis of inherited cancer syndromes and Hirschsprung disease. Identifying all elements contributing to its transcriptional regulation might provide new clues to clarify both developmental and pathogenic mechanisms.(More)
OBJECTIVE Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. Because we have(More)
—In this paper we propose CMOS-compatible Memristive-Biosensors as label-free, highly sensitive sensors for in-air detection of Vascular Endothelial Growth Factor (VEGF) molecules. The memristive behavior of the fabricated devices is strongly affected by molecules in proximity of the wire surface. In this paper, we demonstrate the reproducibility of the(More)