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Page 1
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Stewart AK, et al. Among authors: brugnara c. Am J Physiol Cell Physiol. 2011 Dec;301(6):C1325-43. doi: 10.1152/ajpcell.00054.2011. Epub 2011 Aug 17. Am J Physiol Cell Physiol. 2011. PMID: 21849667 Free PMC article.
Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.
Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL. Rivera A, et al. Among authors: brugnara c. Am J Physiol Cell Physiol. 2019 Aug 1;317(2):C287-C302. doi: 10.1152/ajpcell.00074.2019. Epub 2019 May 15. Am J Physiol Cell Physiol. 2019. PMID: 31091145 Free article.
Chemical crosslinking studies with the mouse Kcc1 K-Cl cotransporter.
Casula S, Zolotarev AS, Stuart-Tilley AK, Wilhelm S, Shmukler BE, Brugnara C, Alper SL. Casula S, et al. Among authors: brugnara c. Blood Cells Mol Dis. 2009 May-Jun;42(3):233-40. doi: 10.1016/j.bcmd.2009.01.021. Blood Cells Mol Dis. 2009. PMID: 19380103 Free PMC article.
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Andolfo I, et al. Among authors: brugnara c. Blood. 2013 May 9;121(19):3925-35, S1-12. doi: 10.1182/blood-2013-02-482489. Epub 2013 Mar 11. Blood. 2013. PMID: 23479567 Free article.
Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.
Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL. Rivera A, et al. Among authors: brugnara c. Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716. Epub 2017 Apr 29. Am J Hematol. 2017. PMID: 28295477 Free article. No abstract available.
291 results