Harvard Catalyst Profiles

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Seth Leo Alper, M.D., Ph.D.

Co-Author

This page shows the publications co-authored by Seth Alper and Boris Shmukler.
Connection Strength

13.854
  1. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346. Blood Cells Mol Dis. 2020 Mar; 81:102390.
    View in: PubMed
    Score: 0.968
  2. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Kim EH, Hsu A, Wohlgemuth JG, Morton J, Snyder LM, De Franceschi L, Rust MB, Hubner CA, Brugnara C, Alper SL. Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia. Blood Cells Mol Dis. 2020 03; 81:102389.
    View in: PubMed
    Score: 0.960
  3. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease. Blood Cells Mol Dis. 2019 11; 79:102346.
    View in: PubMed
    Score: 0.936
  4. Shmukler BE, Lawson ND, Paw BH, Alper SL. Authors' response to "Comment on: 'Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia'". Haematologica. 2016 Jan; 101(1):e39.
    View in: PubMed
    Score: 0.732
  5. Shmukler BE, Huston NC, Thon JN, Ni CW, Kourkoulis G, Lawson ND, Paw BH, Alper SL. Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia. Haematologica. 2015 Dec; 100(12):e483-5.
    View in: PubMed
    Score: 0.714
  6. Shmukler BE, Reimold FR, Heneghan JF, Chen C, Zhao T, Paw BH, Alper SL. Molecular cloning and functional characterization of zebrafish Slc4a3/Ae3 anion exchanger. Pflugers Arch. 2014 Aug; 466(8):1605-18.
    View in: PubMed
    Score: 0.648
  7. Shmukler BE, Vandorpe DH, Rivera A, Auerbach M, Brugnara C, Alper SL. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. Blood Cells Mol Dis. 2014 Jan; 52(1):53-4.
    View in: PubMed
    Score: 0.622
  8. Shmukler BE, Hsu A, Alves J, Trudel M, Rust MB, Hubner CA, Rivera A, Alper SL. N-ethylmaleimide activates a Cl(-)-independent component of K(+) flux in mouse erythrocytes. Blood Cells Mol Dis. 2013 Jun; 51(1):9-16.
    View in: PubMed
    Score: 0.602
  9. Shmukler BE, Mukodzi S, Andres O, Eber S, Alper SL. Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout. Br J Haematol. 2013 May; 161(4):602-4.
    View in: PubMed
    Score: 0.600
  10. Shmukler BE, Rivera A, Vandorpe DH, Alves J, Bonfanti U, Paltrinieri S, Alper SL. Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease. Blood Cells Mol Dis. 2012 Apr 15; 48(4):219-25.
    View in: PubMed
    Score: 0.562
  11. Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, Colah RB, Alper SL. Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D. Am J Hematol. 2010 Oct; 85(10):824-8.
    View in: PubMed
    Score: 0.509
  12. Shmukler BE, Clark JS, Hsu A, Vandorpe DH, Stewart AK, Kurschat CE, Choe SK, Zhou Y, Amigo J, Paw BH, Alper SL. Zebrafish ae2.2 encodes a second slc4a2 anion exchanger. Am J Physiol Regul Integr Comp Physiol. 2008 Mar; 294(3):R1081-91.
    View in: PubMed
    Score: 0.418
  13. Shmukler BE, Kurschat CE, Ackermann GE, Jiang L, Zhou Y, Barut B, Stuart-Tilley AK, Zhao J, Zon LI, Drummond IA, Vandorpe DH, Paw BH, Alper SL. Zebrafish slc4a2/ae2 anion exchanger: cDNA cloning, mapping, functional characterization, and localization. Am J Physiol Renal Physiol. 2005 Oct; 289(4):F835-49.
    View in: PubMed
    Score: 0.351
  14. Shmukler BE, Bond CT, Wilhelm S, Bruening-Wright A, Maylie J, Adelman JP, Alper SL. Structure and complex transcription pattern of the mouse SK1 K(Ca) channel gene, KCNN1. Biochim Biophys Acta. 2001 Mar 19; 1518(1-2):36-46.
    View in: PubMed
    Score: 0.263
  15. Shmukler BE, Brugnara C, Alper SL. Structure and genetic polymorphism of the mouse KCC1 gene. Biochim Biophys Acta. 2000 Jul 24; 1492(2-3):353-61.
    View in: PubMed
    Score: 0.251
  16. Shmukler BE, Wilhelm S, Alper SL. Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1 Cl-/HCO3-exchanger. DNA Seq. 2000; 11(5):447-50.
    View in: PubMed
    Score: 0.242
  17. 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. Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells. Am J Physiol Cell Physiol. 2019 08 01; 317(2):C287-C302.
    View in: PubMed
    Score: 0.231
  18. Gnanasambandam R, Rivera A, Vandorpe DH, Shmukler BE, Brugnara C, Snyder LM, Andolfo I, Iolascon A, Silveira PA, Hamerschlak N, Gottlieb P, Alper SL. Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M. Hemasphere. 2018 Oct; 2(5):e55.
    View in: PubMed
    Score: 0.222
  19. Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL. Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc. Am J Hematol. 2017 06; 92(6):E108-E110.
    View in: PubMed
    Score: 0.201
  20. Shmukler B, Sun T, Brugnara C, Alper SL. Reinterpretation of the RACTK1 K+ channel. Am J Physiol. 1997 Jan; 272(1 Pt 1):C350-4.
    View in: PubMed
    Score: 0.196
  21. Vichot AA, Zsengellér ZK, Shmukler BE, Adams ND, Dahl NK, Alper SL. Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. Clin Kidney J. 2017 Feb; 10(1):135-140.
    View in: PubMed
    Score: 0.192
  22. Heneghan JF, Vandorpe DH, Shmukler BE, Giovinazzo JA, Giovinnazo JA, Raper J, Friedman DJ, Pollak MR, Alper SL. BH3 domain-independent apolipoprotein L1 toxicity rescued by BCL2 prosurvival proteins. Am J Physiol Cell Physiol. 2015 Sep 01; 309(5):C332-47.
    View in: PubMed
    Score: 0.177
  23. Reimold FR, Balasubramanian S, Doroquez DB, Shmukler BE, Zsengeller ZK, Saslowsky D, Thiagarajah JR, Stillman IE, Lencer WI, Wu BL, Villalpando-Carrion S, Alper SL. Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W. Front Physiol. 2015; 6:179.
    View in: PubMed
    Score: 0.177
  24. Reimold FR, Stewart AK, Stolpe K, Heneghan JF, Shmukler BE, Alper SL. Substitution of transmembrane domain Cys residues alters pH(o)-sensitive anion transport by AE2/SLC4A2 anion exchanger. Pflugers Arch. 2013 Jun; 465(6):839-51.
    View in: PubMed
    Score: 0.149
  25. Reimold FR, Heneghan JF, Stewart AK, Zelikovic I, Vandorpe DH, Shmukler BE, Alper SL. Pendrin function and regulation in Xenopus oocytes. Cell Physiol Biochem. 2011; 28(3):435-50.
    View in: PubMed
    Score: 0.138
  26. 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. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. Am J Physiol Cell Physiol. 2011 Dec; 301(6):C1325-43.
    View in: PubMed
    Score: 0.135
  27. Stewart AK, Shmukler BE, Vandorpe DH, Reimold F, Heneghan JF, Nakakuki M, Akhavein A, Ko S, Ishiguro H, Alper SL. SLC26 anion exchangers of guinea pig pancreatic duct: molecular cloning and functional characterization. Am J Physiol Cell Physiol. 2011 Aug; 301(2):C289-303.
    View in: PubMed
    Score: 0.133
  28. Stewart AK, Chebib FT, Akbar SW, Salas MJ, Sonik RA, Shmukler BE, Alper SL. Interactions of mouse glycophorin A with the dRTA-related mutant G719D of the mouse Cl-/HCO3- exchanger Ae1. Biochem Cell Biol. 2011 Apr; 89(2):224-35.
    View in: PubMed
    Score: 0.132
  29. Stewart AK, Kedar PS, Shmukler BE, Vandorpe DH, Hsu A, Glader B, Rivera A, Brugnara C, Alper SL. Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis. Am J Physiol Cell Physiol. 2011 May; 300(5):C1034-46.
    View in: PubMed
    Score: 0.130
  30. Heneghan JF, Akhavein A, Salas MJ, Shmukler BE, Karniski LP, Vandorpe DH, Alper SL. Regulated transport of sulfate and oxalate by SLC26A2/DTDST. Am J Physiol Cell Physiol. 2010 Jun; 298(6):C1363-75.
    View in: PubMed
    Score: 0.122
  31. Vandorpe DH, Xu C, Shmukler BE, Otterbein LE, Trudel M, Sachs F, Gottlieb PA, Brugnara C, Alper SL. Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes. PLoS One. 2010 Jan 15; 5(1):e8732.
    View in: PubMed
    Score: 0.121
  32. Casula S, Zolotarev AS, Stuart-Tilley AK, Wilhelm S, Shmukler BE, Brugnara C, Alper SL. Chemical crosslinking studies with the mouse Kcc1 K-Cl cotransporter. Blood Cells Mol Dis. 2009 May-Jun; 42(3):233-40.
    View in: PubMed
    Score: 0.115
  33. Xu C, Shmukler BE, Nishimura K, Kaczmarek E, Rossetti S, Harris PC, Wandinger-Ness A, Bacallao RL, Alper SL. Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells. Am J Physiol Renal Physiol. 2009 Jun; 296(6):F1464-76.
    View in: PubMed
    Score: 0.114
  34. Stewart AK, Shmukler BE, Vandorpe DH, Alper SL. Molecular characterization of Slc26a3 and Slc26a6 anion transporters in guinea pig pancreatic duct. J Med Invest. 2009; 56 Suppl:329-31.
    View in: PubMed
    Score: 0.113
  35. Kurschat CE, Shmukler BE, Jiang L, Hevi S, Kim EH, Stewart AK, Alper SL. Mouse strain-specific coding polymorphism in the Slc4a2/Ae2 gene encodes Ae2c2 variants differing in isoform-specific dominant negative activity. Exp Physiol. 2008 Apr; 93(4):458-67.
    View in: PubMed
    Score: 0.105
  36. Zolotarev AS, Unnikrishnan M, Shmukler BE, Clark JS, Vandorpe DH, Grigorieff N, Rubin EJ, Alper SL. Increased sulfate uptake by E. coli overexpressing the SLC26-related SulP protein Rv1739c from Mycobacterium tuberculosis. Comp Biochem Physiol A Mol Integr Physiol. 2008 Mar; 149(3):255-66.
    View in: PubMed
    Score: 0.105
  37. Stewart AK, Kurschat CE, Vaughan-Jones RD, Shmukler BE, Alper SL. Acute regulation of mouse AE2 anion exchanger requires isoform-specific amino acid residues from most of the transmembrane domain. J Physiol. 2007 Oct 01; 584(Pt 1):59-73.
    View in: PubMed
    Score: 0.102
  38. Kurschat CE, Shmukler BE, Jiang L, Wilhelm S, Kim EH, Chernova MN, Kinne RK, Stewart AK, Alper SL. Alkaline-shifted pHo sensitivity of AE2c1-mediated anion exchange reveals novel regulatory determinants in the AE2 N-terminal cytoplasmic domain. J Biol Chem. 2006 Jan 27; 281(4):1885-96.
    View in: PubMed
    Score: 0.091
  39. Dahl NK, Jiang L, Chernova MN, Stuart-Tilley AK, Shmukler BE, Alper SL. Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer. J Biol Chem. 2003 Nov 07; 278(45):44949-58.
    View in: PubMed
    Score: 0.078
  40. Chernova MN, Jiang L, Shmukler BE, Schweinfest CW, Blanco P, Freedman SD, Stewart AK, Alper SL. Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes. J Physiol. 2003 May 15; 549(Pt 1):3-19.
    View in: PubMed
    Score: 0.075
  41. Stewart AK, Chernova MN, Shmukler BE, Wilhelm S, Alper SL. Regulation of AE2-mediated Cl- transport by intracellular or by extracellular pH requires highly conserved amino acid residues of the AE2 NH2-terminal cytoplasmic domain. J Gen Physiol. 2002 Nov; 120(5):707-22.
    View in: PubMed
    Score: 0.074
  42. Roussa E, Shmukler BE, Wilhelm S, Casula S, Stuart-Tilley AK, Thévenod F, Alper SL. Immunolocalization of potassium-chloride cotransporter polypeptides in rat exocrine glands. Histochem Cell Biol. 2002 Apr; 117(4):335-44.
    View in: PubMed
    Score: 0.070
  43. Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL. A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 09; 276(45):41870-8.
    View in: PubMed
    Score: 0.068
  44. Papageorgiou P, Shmukler BE, Stuart-Tilley AK, Jiang L, Alper SL. AE anion exchangers in atrial tumor cells. Am J Physiol Heart Circ Physiol. 2001 Mar; 280(3):H937-45.
    View in: PubMed
    Score: 0.065
  45. Su W, Shmukler BE, Chernova MN, Stuart-Tilley AK, de Franceschi L, Brugnara C, Alper SL. Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. Am J Physiol. 1999 11; 277(5):C899-912.
    View in: PubMed
    Score: 0.060
  46. Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL, Hildebrandt F. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int. 2020 Mar; 97(3):567-579.
    View in: PubMed
    Score: 0.060
  47. Alper SL, Rossmann H, Wilhelm S, Stuart-Tilley AK, Shmukler BE, Seidler U. Expression of AE2 anion exchanger in mouse intestine. Am J Physiol. 1999 08; 277(2):G321-32.
    View in: PubMed
    Score: 0.059
  48. Zolotarev AS, Shmukler BE, Alper SL. AE2 anion exchanger polypeptide is a homooligomer in pig gastric membranes: a chemical cross-linking study. Biochemistry. 1999 Jun 29; 38(26):8521-31.
    View in: PubMed
    Score: 0.058
  49. Vandorpe DH, Shmukler BE, Jiang L, Lim B, Maylie J, Adelman JP, de Franceschi L, Cappellini MD, Brugnara C, Alper SL. cDNA cloning and functional characterization of the mouse Ca2+-gated K+ channel, mIK1. Roles in regulatory volume decrease and erythroid differentiation. J Biol Chem. 1998 Aug 21; 273(34):21542-53.
    View in: PubMed
    Score: 0.055
  50. Stuart-Tilley AK, Shmukler BE, Brown D, Alper SL. Immunolocalization and tissue-specific splicing of AE2 anion exchanger in mouse kidney. J Am Soc Nephrol. 1998 Jun; 9(6):946-59.
    View in: PubMed
    Score: 0.054
  51. Alper SL, Stuart-Tilley AK, Biemesderfer D, Shmukler BE, Brown D. Immunolocalization of AE2 anion exchanger in rat kidney. Am J Physiol. 1997 10; 273(4):F601-14.
    View in: PubMed
    Score: 0.052
  52. Zhang J, Gao G, Begum G, Wang J, Khanna AR, Shmukler BE, Daubner GM, de Los Heros P, Davies P, Varghese J, Bhuiyan MI, Duan J, Zhang J, Duran D, Alper SL, Sun D, Elledge SJ, Alessi DR, Kahle KT. Functional kinomics establishes a critical node of volume-sensitive cation-Cl- cotransporter regulation in the mammalian brain. Sci Rep. 2016 10 26; 6:35986.
    View in: PubMed
    Score: 0.048
  53. Muskett JA, Chattaraj P, Heneghan JF, Reimold FR, Shmukler BE, Brewer CC, King KA, Zalewski CK, Shawker TH, Butman JA, Kenna MA, Chien WW, Alper SL, Griffith AJ. Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope. 2016 07; 126(7):E240-7.
    View in: PubMed
    Score: 0.045
  54. Tubman VN, Mejia P, Shmukler BE, Bei AK, Alper SL, Mitchell JR, Brugnara C, Duraisingh MT. The Clinically Tested Gardos Channel Inhibitor Senicapoc Exhibits Antimalarial Activity. Antimicrob Agents Chemother. 2016 01; 60(1):613-6.
    View in: PubMed
    Score: 0.045
  55. Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). Am J Hematol. 2015 Oct; 90(10):921-6.
    View in: PubMed
    Score: 0.045
  56. Begum G, Yuan H, Kahle KT, Li L, Wang S, Shi Y, Shmukler BE, Yang SS, Lin SH, Alper SL, Sun D. Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke. Stroke. 2015 Jul; 46(7):1956-1965.
    View in: PubMed
    Score: 0.044
  57. 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. Hereditary xerocytosis revisited. Am J Hematol. 2014 Dec; 89(12):1142-6.
    View in: PubMed
    Score: 0.041
  58. Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ. Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA Otolaryngol Head Neck Surg. 2013 Sep; 139(9):907-13.
    View in: PubMed
    Score: 0.039
  59. 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. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013 May 09; 121(19):3925-35, S1-12.
    View in: PubMed
    Score: 0.038
  60. Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan; 88(1):66-72.
    View in: PubMed
    Score: 0.037
  61. Rust MB, Alper SL, Rudhard Y, Shmukler BE, Vicente R, Brugnara C, Trudel M, Jentsch TJ, Hübner CA. Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice. J Clin Invest. 2007 Jun; 117(6):1708-17.
    View in: PubMed
    Score: 0.025
  62. Stehberger PA, Shmukler BE, Stuart-Tilley AK, Peters LL, Alper SL, Wagner CA. Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). J Am Soc Nephrol. 2007 May; 18(5):1408-18.
    View in: PubMed
    Score: 0.025
  63. Loffing J, Moyer BD, Reynolds D, Shmukler BE, Alper SL, Stanton BA. Functional and molecular characterization of an anion exchanger in airway serous epithelial cells. Am J Physiol Cell Physiol. 2000 Oct; 279(4):C1016-23.
    View in: PubMed
    Score: 0.016
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.