TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity A Caputo, E Caci, L Ferrera, N Pedemonte, C Barsanti, E Sondo, U Pfeffer, ... Science 322 (5901), 590-594, 2008 | 1460 | 2008 |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 550 | 2011 |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single … M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ... Medicine 82 (3), 203-215, 2003 | 416 | 2003 |
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ... Nature genetics 26 (1), 103-105, 2000 | 404 | 2000 |
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease … H Azzedine, A Bolino, T Taieb, N Birouk, M Di Duca, A Bouhouche, ... The American Journal of Human Genetics 72 (5), 1141-1153, 2003 | 338 | 2003 |
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central … I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, GM Casiraghi, ... Journal of medical genetics 41 (5), 373-380, 2004 | 322 | 2004 |
Regulation of TMEM16A chloride channel properties by alternative splicing L Ferrera, A Caputo, I Ubby, E Bussani, O Zegarra-Moran, R Ravazzolo, ... Journal of Biological Chemistry 284 (48), 33360-33368, 2009 | 252 | 2009 |
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia P Scudieri, E Caci, S Bruno, L Ferrera, M Schiavon, E Sondo, V Tomati, ... The Journal of physiology 590 (23), 6141-6155, 2012 | 183 | 2012 |
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro LJV Galietta, P Pagesy, C Folli, E Caci, L Romio, B Costes, E Nicolis, ... The Journal of Immunology 168 (2), 839-845, 2002 | 177 | 2002 |
Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels N Pedemonte, E Caci, E Sondo, A Caputo, K Rhoden, U Pfeffer, ... The Journal of Immunology 178 (8), 5144-5153, 2007 | 173 | 2007 |
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, I Ceccherini The Journal of Molecular Diagnostics 8 (5), 544-550, 2006 | 171 | 2006 |
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications A D'Osualdo, F Ferlito, I Prigione, L Obici, A Meini, F Zulian, A Pontillo, ... Arthritis & Rheumatism 54 (3), 998-1008, 2006 | 165 | 2006 |
Polymorphisms in the osteopontin promoter affect its transcriptional activity F Giacopelli, R Marciano, A Pistorio, P Catarsi, S Canini, G Karsenty, ... Physiological genomics 20 (1), 87-96, 2004 | 163 | 2004 |
Lysyl oxidase activates the transcription activity of human collagene III promoter: Possible involvement of Ku antigen M Giampuzzi, G Botti, M Di Duca, L Arata, GM Ghiggeri, R Gusmano, ... Journal of Biological Chemistry 275 (46), 36341-36349, 2000 | 160 | 2000 |
Mutations in DSTYK and Dominant Urinary Tract Malformations S Sanna-Cherchi, RV Sampogna, N Papeta, KE Burgess, SN Nees, ... New England Journal of Medicine 369 (7), 621-629, 2013 | 154 | 2013 |
Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension R Pontremoli, M Ravera, F Viazzi, C Nicolella, V Berruti, G Leoncini, ... Kidney international 57 (2), 561-569, 2000 | 148 | 2000 |
Ectodermal dysplasias: not only ‘skin’deep M Priolo, M Silengo, M Lerone, R Ravazzolo Clinical genetics 58 (6), 415-430, 2000 | 145 | 2000 |
Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t (2; 7) translocation R Bocciardi, R Giorda, J Buttgereit, S Gimelli, MT Divizia, S Beri, ... Human mutation 28 (7), 724-731, 2007 | 143 | 2007 |
The deletion polymorphism of the angiotensin I-converting enzyme gene is associated with target organ damage in essential hypertension. R Pontremoli, A Sofia, A Tirotta, M Ravera, C Nicolella, F Viazzi, ... Journal of the American Society of Nephrology 7 (12), 2550-2558, 1996 | 142 | 1996 |
Evidence for direct CFTR inhibition by CFTRinh-172 based on Arg347 mutagenesis E Caci, A Caputo, A Hinzpeter, N Arous, P Fanen, N Sonawane, ... Biochemical Journal 413 (1), 135-142, 2008 | 131 | 2008 |