User profiles for Roberto Ravazzolo

R Ravazzolo

Professore di Genetica, Universitą di Genova, Istituto G. Gaslini
Verified email at unige.it
Cited by 12133

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

…, C Barsanti, E Sondo, U Pfeffer, R Ravazzolo… - Science, 2008 - science.org
Calcium-dependent chloride channels are required for normal electrolyte and fluid secretion,
olfactory perception, and neuronal and smooth muscle excitability. The molecular identity …

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable …

…, JR Soriano, A Renieri, GM Ghiggeri, R Ravazzolo… - Medicine, 2003 - journals.lww.com
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are
autosomal dominant macrothrombocytopenias distinguished by different combinations of …

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus

…, G Paolo Ramelli, A Rauch, R Ravazzolo… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

[HTML][HTML] Regulation of TMEM16A chloride channel properties by alternative splicing

…, E Bussani, O Zegarra-Moran, R Ravazzolo… - Journal of biological …, 2009 - ASBMB
Expression of TMEM16A protein is associated with the activity of Ca 2+ -activated Cl −
channels. TMEM16A primary transcript undergoes alternative splicing. thus resulting in the …

Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia

…, N Pedemonte, F Rea, R Ravazzolo… - The Journal of …, 2012 - Wiley Online Library
Key Points • Chloride channels are important for proper hydration of the airway surface. •
TMEM16A protein is an important component of calcium‐activated chloride channels. • …

Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels

…, M Di Candia, R Bandettini, R Ravazzolo… - The Journal of …, 2007 - journals.aai.org
SCN−(thiocyanate) is an important physiological anion involved in innate defense of
mucosal surfaces. SCN− is oxidized by H 2 O 2, a reaction catalyzed by lactoperoxidase, to …

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

…, P Picco, M Baldi, A Plebani, R Ravazzolo… - Arthritis & …, 2006 - Wiley Online Library
Objective To explore tumor necrosis factor (TNF)–induced apoptosis in neutrophils from
patients with TNF receptor–associated periodic syndrome (TRAPS) and to correlate the results …

IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro

…, G Cabrini, M Goossens, R Ravazzolo… - The Journal of …, 2002 - journals.aai.org
Recent data show that proinflammatory stimuli may modify significantly ion transport in the
airway epithelium and therefore the properties of the airway surface fluid. We have studied the …

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences

M Musso, R Bocciardi, S Parodi, R Ravazzolo… - The Journal of Molecular …, 2006 - Elsevier
Currently, polymerase chain reaction is the most used technique in many laboratories for
either diagnostic or molecular biology purposes. Despite the large number of DNA sequences …

Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t (2; 7) translocation

…, M Lerone, O Zuffardi, M Bader, R Ravazzolo… - Human …, 2007 - Wiley Online Library
Longitudinal bone growth is determined by the process of endochondral ossification in the
cartilaginous growth plate, which is located at both ends of vertebrae and long bones and …