Alper SL - Search Results

1

Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.

Shmukler BE, Mukodzi S, Andres O, Eber S, Alper SL. Shmukler BE, et al. Among authors: alper sl. Br J Haematol. 2013 May;161(4):602-4. doi: 10.1111/bjh.12261. Epub 2013 Feb 14. Br J Haematol. 2013. PMID: 23406318 Free article. No abstract available.

2

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: alper sl. 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.

3

Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.

Shmukler BE, Rivera A, Vandorpe DH, Alves J, Bonfanti U, Paltrinieri S, Alper SL. Shmukler BE, et al. Among authors: alper sl. Blood Cells Mol Dis. 2012 Apr 15;48(4):219-25. doi: 10.1016/j.bcmd.2012.02.003. Epub 2012 Mar 9. Blood Cells Mol Dis. 2012. PMID: 22406315 Free PMC article.

4

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

Shmukler BE, Vandorpe DH, Rivera A, Auerbach M, Brugnara C, Alper SL. Shmukler BE, et al. Among authors: alper sl. Blood Cells Mol Dis. 2014 Jan;52(1):53-4. doi: 10.1016/j.bcmd.2013.07.015. Epub 2013 Aug 23. Blood Cells Mol Dis. 2014. PMID: 23973043 No abstract available.

5

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

Stewart AK, Kedar PS, Shmukler BE, Vandorpe DH, Hsu A, Glader B, Rivera A, Brugnara C, Alper SL. Stewart AK, et al. Among authors: alper sl. Am J Physiol Cell Physiol. 2011 May;300(5):C1034-46. doi: 10.1152/ajpcell.00447.2010. Epub 2011 Jan 5. Am J Physiol Cell Physiol. 2011. PMID: 21209359 Free PMC article.

6

Authors' response to "Comment on: 'Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia'".

Shmukler BE, Lawson ND, Paw BH, Alper SL. Shmukler BE, et al. Among authors: alper sl. Haematologica. 2016 Jan;101(1):e39. doi: 10.3324/haematol.2015.137810. Haematologica. 2016. PMID: 26721803 Free PMC article. No abstract available.

7

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: alper sl. 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.

8

Hereditary xerocytosis revisited.

Archer NM, Shmukler BE, Andolfo I, Vandorpe DH, Gnanasambandam R, Higgins JM, Rivera A, Fleming MD, Sachs F, Gottlieb PA, Iolascon A, Brugnara C, Alper SL, Nathan DG. Archer NM, et al. Among authors: alper sl. Am J Hematol. 2014 Dec;89(12):1142-6. doi: 10.1002/ajh.23799. Epub 2014 Jul 21. Am J Hematol. 2014. PMID: 25044010 Free PMC article.

9

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A. Andolfo I, et al. Among authors: alper sl. Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117. Am J Hematol. 2015. PMID: 26178367 Free article. Clinical Trial.

10

Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.

Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, Colah RB, Alper SL. Shmukler BE, et al. Among authors: alper sl. Am J Hematol. 2010 Oct;85(10):824-8. doi: 10.1002/ajh.21836. Am J Hematol. 2010. PMID: 20799361 Free PMC article.

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