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Seth L. Alper, MD, PhD

Publications

  • Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Nat Genet. 2013 Mar;45(3):299-303.
    23396133
  • 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.
    23180570
  • Alper SL, Stewart AK, Vandorpe DH, Clark JS, Horack RZ, Simpson JE, Walker NM, Clarke LL.Native and recombinant Slc26a3 (downregulated in adenoma, Dra) do not exhibit properties of 2Cl-/1HCO3- exchange.Am J Physiol Cell Physiol. 2011 Feb;300(2):C276-86.
    21068358
  • Heneghan JF, Akhavein A, Salas M, 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.
    20219950
  • Gawenis LR, Bradford EM, Alper SL, Prasad V, Shull GE.AE2 Cl-/HCO3- Exchanger is Required for Normal cAMP-stimulated Anion Secretion in Murine Proximal Colon.Am J Physiol Gastrointest Liver Physiol. 2010 Apr;298(4):G493-503.
    20110461
  • Stewart AK, Vandorpe DH, Heneghan JF, Chebib F, Stolpe K, Akhavein A, Edelman EJ, Maksimova Y, Gallagher PG, Alper SL.The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.Am J Physiol Cell Physiol. 2010 Feb;298(2):C283-97.
    19907019
  • 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;5(1):e8732.
    20090940
  • Xu J, Song P, Nakamura S, Miller M, Barone S, Alper SL, Riederer B, Bonhagen J, Arend LJ, Amlal H, Seidler U, Soleimani M.Deletion of the chloride transporter slc26a7 causes distal renal tubular acidosis and impairs gastric acid secretion.J Biol Chem. 2009 Oct 23;284(43):29470-9.
    19723628
  • Zhou C, Tiberi M, Liang B, Alper SL, Baltz JM.HCO3(-)/Cl(-) exchange inactivation and reactivation during mouse oocyte meiosis correlates with MEK/MAPK-regulated Ae2 plasma membrane localization.PLoS ONE. 2009;4(10):e7417.
    19823673
  • Choi BY, Stewart AK, Nishimura KK, Cha WJ, Seong MW, Park SS, Kim SW, Chun YS, Chung JW, Park SN, Chang SO, Kim CS, Alper SL, Griffith AJ, Oh SH.Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Genet Test Mol Biomarkers. 2009 Oct;13(5):679-87.
    19645628
  • Sharma AK, Ye L, Zolotarev AS, Alper SL, Rigby AC.NMR assignment and secondary structure of the STAS domain of Rv1739c, a putative sulfate transporter of Mycobacterium tuberculosis.Biomol NMR Assign. 2009 Jun;3(1):99-102.
    19636956
  • Alper SL.Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.J Exp Biol. 2009 Jun;212(Pt 11):1672-83. Review.
    19448077
  • 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.
    19380103
  • 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.
    19244404
  • Stewart AK,Kurschat CE,Vaughan-Jones RD,Alper SL.Putative re-entrant loop 1 of AE2 transmembrane domain has a major role in acute regulation of anion exchange by pH.J Biol Chem. 2009 Mar 6;284(10):6126-39.
    19103596
  • Xu J,Song P,Miller ML,Borgese F,Barone S,Riederer B,Wang Z,Alper SL,Forte JG,Shull GE,Ehrenfeld J,Seidler U,Soleimani M.Deletion of the chloride transporter Slc26a9 causes loss of tubulovesicles in parietal cells and impairs acid secretion in the stomach.Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17955-60.
    19004773
  • Alper SL.Let's look at cysts from both sides now.Kidney Int. 2008 Sep;74(6):699-702.
    18756294
  • Alper SL, Vandorpe DH, Peters LL, Brugnara C.Reduced DIDS-sensitive chloride conductance in Ae1(-/-) mouse erythrocytes.Blood Cells Mol Dis.;41(1):22-34.
    18329299
  • Chernova MN,Stewart AK,Barry PN,Jennings ML,Alper SL.Mouse Ae1 E699Q mediates SO42-i/anion-o exchange with [SO42-]i-dependent reversal of wild-type pHo sensitivity.Am J Physiol Cell Physiol. 2008 Aug;295(2):C302-12.
    18480299
  • 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.
    18192337
  • De Franceschi L, Ronzoni L, Cappellini MD, Cimmino F, Siciliano A, Alper SL, Servedio V, Pozzobon C, Iolascon A.K-CL co-transport plays an important role in normal and beta thalassemic erythropoiesis.Haematologica. 2007 Oct;92(10):1319-26.
    18024369
  • Gonzalez-Begne M, Nakamoto T, Nguyen HV, Stewart AK, Alper SL, Melvin JE.Enhanced formation of a HCO3- transport metabolon in exocrine cells of Nhe1-/- mice.J Biol Chem. 2007 Nov 30;282(48):35125-32.
    17890222
  • 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 1;584(Pt 1):59-73.
    17690150
  • Morgan PE, Pastorekov S, Stuart-Tilley AK, Alper SL, Casey JR.Interactions of transmembrane carbonic anhydrase, CAIX, with bicarbonate transporters.Am J Physiol Cell Physiol. 2007 Aug;293(2):C738-48.
    17652430
  • Kanaan A, Douglas RM, Alper SL, Boron WF, Haddad GG.Effect of chronic elevated carbon dioxide on the expression of acid-base transporters in the neonatal and adult mouse.Am J Physiol Regul Integr Comp Physiol. 2007 Sep;293(3):R1294-302.
    17652362
  • Rust MB, Alper SL, Rudhard Y, Shmukler BE, Vicente R, Brugnara C, Trudel M, Jentsch TJ, Hubner 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.
    17510708
  • Chernova MN, Jiang L, Friedman DJ, Darman RB, Lohi H, Kere J, Vandorpe DH, Alper SL.Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity.J Biol Chem. 2005 Feb;280:xxx-yyy.
  • Begenisich T, Nakamoto T, Ovitt C, Nehrke K, Brugnara C, Alper SL, Melvin JE.Physiological roles of the intermediate conductance, Ca2+-activated K channel, Kcnn4.J Biol Chem. 2004 Nov 12;279(46):47681-7.
    15347667
  • Shen MR, Chang TJ, Hsu YM, Lin AC, Tang MJ, Alper SL, Ellory JC, Chou CY.Insulin-like growth factor 1 stimulates KCl cotransport which is necessary for invasion and proliferation of cervical, ovarian, and breast cancer cells.J Biol Chem. 2004 Sept 17;279(38):40017-40025.
  • Gawenis LR, Ledoussal C, Judd LM, Prasad V, Alper SL, Stuart-Tilley A, Woo AL, Grisham C, Sanford LP, Doetschman T, Miller ML, Shull GE.Mice with a targeted disruption of the AE2 Cl-/HCO3- exchanger are achlorhydric.J Biol Chem. 2004 Jul 16;279(29):30531-9.
    15123620
  • Shen MR, Chou CY, Hsu KF, Hsu YM, Chiu WT, Tang MJ, Alper SL, Ellory JC.KCl cotransport is an important modulator of human cervical cancer growth and invasion.J Biol Chem. 2003 Oct 10;278(41):39941-50.
    12902337
  • Karumanchi SA, Jiang L, Knebelmann B, Stuart-Tilley AK, Alper SL, Sukhatme VP.VHL tumor suppressor regulates Cl-/HCO3- exchange and Na+/H+ exchange activities in renal carcinoma cells.Physiol Genomics. 2001 Apr 2;5(3):119-28.
    11285365