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Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Sperandeo MP, et al. Among authors: piccolo p. Am J Physiol Cell Physiol. 2007 Jul;293(1):C191-8. doi: 10.1152/ajpcell.00583.2006. Epub 2007 Mar 21. Am J Physiol Cell Physiol. 2007. PMID: 17376816 Free article.
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Brunetti-Pierri N, et al. Among authors: piccolo p. Clin Dysmorphol. 2011 Apr;20(2):77-81. doi: 10.1097/MCD.0b013e3283439676. Clin Dysmorphol. 2011. PMID: 21285876 Free PMC article.
Autosomal dominant Ménétrier-like disease.
Strisciuglio C, Corleto VD, Brunetti-Pierri N, Piccolo P, Sangermano R, Rindi G, Martini M, D'Armiento FP, Staiano A, Miele E. Strisciuglio C, et al. Among authors: piccolo p. J Pediatr Gastroenterol Nutr. 2012 Dec;55(6):717-20. doi: 10.1097/MPG.0b013e3182645c2f. J Pediatr Gastroenterol Nutr. 2012. PMID: 22711003
Supravalvular aortic stenosis: elastin arteriopathy.
Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN. Merla G, et al. Among authors: piccolo p. Circ Cardiovasc Genet. 2012 Dec;5(6):692-6. doi: 10.1161/CIRCGENETICS.112.962860. Circ Cardiovasc Genet. 2012. PMID: 23250899 Review.
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Pastore N, et al. Among authors: piccolo p. EMBO Mol Med. 2013 Mar;5(3):397-412. doi: 10.1002/emmm.201202046. Epub 2013 Feb 4. EMBO Mol Med. 2013. PMID: 23381957 Free PMC article.
104 results