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Items: 1 to 50 of 288

1.

Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking and activity of the nonselective cation channel TRPC6.

Talbot BE, Vandorpe DH, Stotter BR, Alper SL, Schlondorff JS.

J Biol Chem. 2019 Jul 2. pii: jbc.RA119.008299. doi: 10.1074/jbc.RA119.008299. [Epub ahead of print]

2.

The Peritoneal Surface Proteome in a Model of Chronic Peritoneal Dialysis Reveals Mechanisms of Membrane Damage and Preservation.

Boehm M, Herzog R, Klinglmüller F, Lichtenauer AM, Wagner A, Unterwurzacher M, Beelen RHJ, Alper SL, Aufricht C, Kratochwill K.

Front Physiol. 2019 May 14;10:472. doi: 10.3389/fphys.2019.00472. eCollection 2019.

3.

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) 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.

Am J Physiol Cell Physiol. 2019 May 15. doi: 10.1152/ajpcell.00074.2019. [Epub ahead of print]

PMID:
31091145
4.

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M.

Gnanasambandam R, Rivera A, Vandorpe DH, Shmukler BE, Brugnara C, Snyder LM, Andolfo I, Iolascon A, Silveira PA, Hamerschlak N, Gottlieb P, Alper SL.

Hemasphere. 2018 Oct;2(5):e55. doi: 10.1097/HS9.0000000000000055. Epub 2018 Oct 2.

5.

Cellular and Immunohistochemical Changes in Anaphylactic Shock Induced in the Ovalbumin-Sensitized Wistar Rat Model.

Al-Salam S, Aburawi EH, Al-Hammadi S, Dhanasekaran S, Shafiuallah M, Yasin J, Sudhadevi M, Awwad A, Alper SL, Kazzam EE, Bellou A.

Biomolecules. 2019 Mar 13;9(3). pii: E101. doi: 10.3390/biom9030101.

6.

Study of Cathepsin B inhibition in VEGFR TKI treated human renal cell carcinoma xenografts.

Chen CH, Bhasin S, Khanna P, Joshi M, Joslin PM, Saxena R, Amin S, Liu S, Sindhu S, Walker SR, Catalano P, Frank DA, Alper SL, Bhasin M, Bhatt RS.

Oncogenesis. 2019 Feb 22;8(3):15. doi: 10.1038/s41389-019-0121-7.

7.

Recruitment of APOL1 kidney disease risk variants to lipid droplets attenuates cell toxicity.

Chun J, Zhang JY, Wilkins MS, Subramanian B, Riella C, Magraner JM, Alper SL, Friedman DJ, Pollak MR.

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3712-3721. doi: 10.1073/pnas.1820414116. Epub 2019 Feb 7.

PMID:
30733285
8.

Targeted Metabolomic Profiling of Peritoneal Dialysis Effluents Shows Anti-oxidative Capacity of Alanyl-Glutamine.

Wiesenhofer FM, Herzog R, Boehm M, Wagner A, Unterwurzacher M, Kasper DC, Alper SL, Vychytil A, Aufricht C, Kratochwill K.

Front Physiol. 2019 Jan 21;9:1961. doi: 10.3389/fphys.2018.01961. eCollection 2018.

9.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT.

Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18.

PMID:
30578106
10.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.

PMID:
29983323
11.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

PMID:
29967284
12.

UBD modifies APOL1-induced kidney disease risk.

Zhang JY, Wang M, Tian L, Genovese G, Yan P, Wilson JG, Thadhani R, Mottl AK, Appel GB, Bick AG, Sampson MG, Alper SL, Friedman DJ, Pollak MR.

Proc Natl Acad Sci U S A. 2018 Mar 27;115(13):3446-3451. doi: 10.1073/pnas.1716113115. Epub 2018 Mar 12.

13.

Modulation of tubular solute reuptake in UMOD knockout mice.

Friedman DJ, Alper SL.

Am J Physiol Renal Physiol. 2018 Aug 1;315(2):F238-F240. doi: 10.1152/ajprenal.00080.2018. Epub 2018 Mar 7. No abstract available.

PMID:
29513073
14.

Effects of Alanyl-Glutamine Treatment on the Peritoneal Dialysis Effluent Proteome Reveal Pathomechanism-Associated Molecular Signatures.

Herzog R, Boehm M, Unterwurzacher M, Wagner A, Parapatics K, Májek P, Mueller AC, Lichtenauer A, Bennett KL, Alper SL, Vychytil A, Aufricht C, Kratochwill K.

Mol Cell Proteomics. 2018 Mar;17(3):516-532. doi: 10.1074/mcp.RA117.000186. Epub 2017 Dec 4.

15.

Revised prevalence estimate of possible Hereditary Xerocytosis as derived from a large U.S. Laboratory database.

Kaufman HW, Niles JK, Gallagher DR, Rivera A, Alper SL, Brugnara C, Snyder LM.

Am J Hematol. 2018 Jan;93(1):E9-E12. doi: 10.1002/ajh.24923. Epub 2017 Nov 23. No abstract available.

16.

Human SLC26A4/Pendrin STAS domain is a nucleotide-binding protein: Refolding and characterization for structural studies.

Sharma AK, Krieger T, Rigby AC, Zelikovic I, Alper SL.

Biochem Biophys Rep. 2016 Aug 26;8:184-191. doi: 10.1016/j.bbrep.2016.08.022. eCollection 2016 Dec.

17.

Functional and Transcriptomic Characterization of Peritoneal Immune-Modulation by Addition of Alanyl-Glutamine to Dialysis Fluid.

Herzog R, Kuster L, Becker J, Gluexam T, Pils D, Spittler A, Bhasin MK, Alper SL, Vychytil A, Aufricht C, Kratochwill K.

Sci Rep. 2017 Jul 24;7(1):6229. doi: 10.1038/s41598-017-05872-2.

18.

Genetic Diseases of PIEZO1 and PIEZO2 Dysfunction.

Alper SL.

Curr Top Membr. 2017;79:97-134. doi: 10.1016/bs.ctm.2017.01.001. Epub 2017 Feb 28. Review.

PMID:
28728825
19.

Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus.

Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT.

Nat Med. 2017 Aug;23(8):997-1003. doi: 10.1038/nm.4361. Epub 2017 Jul 10.

PMID:
28692063
20.

Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.

Vichot AA, Zsengellér ZK, Shmukler BE, Adams ND, Dahl NK, Alper SL.

Clin Kidney J. 2017 Feb;10(1):135-140. doi: 10.1093/ckj/sfw074. Epub 2016 Aug 31.

21.

Genome-wide association study of erythrocyte density in sickle cell disease patients.

Ilboudo Y, Bartolucci P, Rivera A, Sedzro JC, Beaudoin M, Trudel M, Alper SL, Brugnara C, Galactéros F, Lettre G.

Blood Cells Mol Dis. 2017 Jun;65:60-65. doi: 10.1016/j.bcmd.2017.05.005. Epub 2017 May 13.

PMID:
28552477
22.

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.

Skorecki KL, Lee JH, Langefeld CD, Rosset S, Tzur S, Wasser WG, Shemer R, Hawkins GA, Divers J, Parekh RS, Li M, Sampson MG, Kretzler M, Pollak MR, Shah S, Blackler D, Nichols B, Wilmot M, Alper SL, Freedman BI, Friedman DJ.

Nephrol Dial Transplant. 2018 Feb 1;33(2):323-330. doi: 10.1093/ndt/gfw451.

23.

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.

Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716. Epub 2017 Apr 29. No abstract available.

24.

NMR insight into myosin-binding subunit coiled-coil structure reveals binding interface with protein kinase G-Iα leucine zipper in vascular function.

Sharma AK, Birrane G, Anklin C, Rigby AC, Alper SL.

J Biol Chem. 2017 Apr 28;292(17):7052-7065. doi: 10.1074/jbc.M117.781260. Epub 2017 Mar 9.

25.

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA.

J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8.

26.

WNK-Cab39-NKCC1 signaling increases the susceptibility to ischemic brain damage in hypertensive rats.

Bhuiyan MIH, Song S, Yuan H, Begum G, Kofler J, Kahle KT, Yang SS, Lin SH, Alper SL, Subramanya AR, Sun D.

J Cereb Blood Flow Metab. 2017 Aug;37(8):2780-2794. doi: 10.1177/0271678X16675368. Epub 2016 Jan 1.

27.

Functional kinomics establishes a critical node of volume-sensitive cation-Cl- cotransporter regulation in the mammalian brain.

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.

Sci Rep. 2016 Oct 26;6:35986. doi: 10.1038/srep35986.

28.

Addition of Alanyl-Glutamine to Dialysis Fluid Restores Peritoneal Cellular Stress Responses - A First-In-Man Trial.

Kratochwill K, Boehm M, Herzog R, Gruber K, Lichtenauer AM, Kuster L, Csaicsich D, Gleiss A, Alper SL, Aufricht C, Vychytil A.

PLoS One. 2016 Oct 21;11(10):e0165045. doi: 10.1371/journal.pone.0165045. eCollection 2016.

29.

A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.

Lupo F, Tibaldi E, Matte A, Sharma AK, Brunati AM, Alper SL, Zancanaro C, Benati D, Siciliano A, Bertoldi M, Zonta F, Storch A, Walker RH, Danek A, Bader B, Hermann A, De Franceschi L.

Blood. 2016 Dec 22;128(25):2976-2987. doi: 10.1182/blood-2016-07-727321. Epub 2016 Oct 14.

30.

4-Aminopyridine, A Blocker of Voltage-Dependent K+ Channels, Restores Blood Pressure and Improves Survival in the Wistar Rat Model of Anaphylactic Shock.

Bellou A, Al-Hammadi S, Aburawi EH, Dhanasekaran S, Nemmar A, Oulhaj A, Shafiuallah M, Zerrouki M, Yasin J, Bellou L, Alper SL, Bellou S, Kazzam E.

Crit Care Med. 2016 Nov;44(11):e1082-e1089.

PMID:
27270180
31.

Loss of Cystic Fibrosis Transmembrane Regulator Impairs Intestinal Oxalate Secretion.

Knauf F, Thomson RB, Heneghan JF, Jiang Z, Adebamiro A, Thomson CL, Barone C, Asplin JR, Egan ME, Alper SL, Aronson PS.

J Am Soc Nephrol. 2017 Jan;28(1):242-249. doi: 10.1681/ASN.2016030279. Epub 2016 Jun 16.

32.

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A.

Haematologica. 2016 Aug;101(8):909-17. doi: 10.3324/haematol.2016.142372. Epub 2016 May 5.

33.

Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.

Wu M, Heneghan JF, Vandorpe DH, Escobar LI, Wu BL, Alper SL.

Pflugers Arch. 2016 Aug;468(8):1311-32. doi: 10.1007/s00424-016-1823-8. Epub 2016 Apr 29.

34.

Structural characterization of the C-terminal coiled-coil domains of wild-type and kidney disease-associated mutants of apolipoprotein L1.

Sharma AK, Friedman DJ, Pollak MR, Alper SL.

FEBS J. 2016 May;283(10):1846-62. doi: 10.1111/febs.13706. Epub 2016 Apr 1.

35.

Deletion of the WNK3-SPAK kinase complex in mice improves radiographic and clinical outcomes in malignant cerebral edema after ischemic stroke.

Zhao H, Nepomuceno R, Gao X, Foley LM, Wang S, Begum G, Zhu W, Pigott VM, Falgoust LM, Kahle KT, Yang SS, Lin SH, Alper SL, Hitchens TK, Hu S, Zhang Z, Sun D.

J Cereb Blood Flow Metab. 2017 Feb;37(2):550-563. doi: 10.1177/0271678X16631561. Epub 2016 Jul 20.

36.

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.

Haematologica. 2016 Jan;101(1):e39. doi: 10.3324/haematol.2015.137810. No abstract available.

37.

APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases.

Olabisi OA, Zhang JY, VerPlank L, Zahler N, DiBartolo S 3rd, Heneghan JF, Schlöndorff JS, Suh JH, Yan P, Alper SL, Friedman DJ, Pollak MR.

Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):830-7. doi: 10.1073/pnas.1522913113. Epub 2015 Dec 23.

38.

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

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.

Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20.

39.

The Clinically Tested Gardos Channel Inhibitor Senicapoc Exhibits Antimalarial Activity.

Tubman VN, Mejia P, Shmukler BE, Bei AK, Alper SL, Mitchell JR, Brugnara C, Duraisingh MT.

Antimicrob Agents Chemother. 2015 Oct 12;60(1):613-6. doi: 10.1128/AAC.01668-15. Print 2016 Jan.

40.

Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia.

Shmukler BE, Huston NC, Thon JN, Ni CW, Kourkoulis G, Lawson ND, Paw BH, Alper SL.

Haematologica. 2015 Dec;100(12):e483-5. doi: 10.3324/haematol.2015.132449. Epub 2015 Aug 20. No abstract available.

41.

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.

Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.

42.

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.

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.

Front Physiol. 2015 Jun 23;6:179. doi: 10.3389/fphys.2015.00179. eCollection 2015.

43.

K-Cl cotransporters, cell volume homeostasis, and neurological disease.

Kahle KT, Khanna AR, Alper SL, Adragna NC, Lauf PK, Sun D, Delpire E.

Trends Mol Med. 2015 Aug;21(8):513-23. doi: 10.1016/j.molmed.2015.05.008. Epub 2015 Jul 1. Review.

44.

BH3 domain-independent apolipoprotein L1 toxicity rescued by BCL2 prosurvival proteins.

Heneghan JF, Vandorpe DH, Shmukler BE, Giovinazzo JA, Raper J, Friedman DJ, Pollak MR, Alper SL.

Am J Physiol Cell Physiol. 2015 Sep 1;309(5):C332-47. doi: 10.1152/ajpcell.00142.2015. Epub 2015 Jun 24. Erratum in: Am J Physiol Cell Physiol. 2015 Dec 15;309(12):C856. Giovinnazo, J A [corrected to Giovinazzo, J A].

45.

Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke.

Begum G, Yuan H, Kahle KT, Li L, Wang S, Shi Y, Shmukler BE, Yang SS, Lin SH, Alper SL, Sun D.

Stroke. 2015 Jul;46(7):1956-1965. doi: 10.1161/STROKEAHA.115.008939. Epub 2015 Jun 11.

46.

Cesium-associated hypokalemia successfully treated with amiloride.

Horn S, Naidus E, Alper SL, Danziger J.

Clin Kidney J. 2015 Jun;8(3):335-8. doi: 10.1093/ckj/sfv017. Epub 2015 Mar 31.

47.

Copy Number Variation at the APOL1 Locus.

Ruchi R, Genovese G, Lee J, Charoonratana VT, Bernhardy AJ, Alper SL, Kopp JB, Thadhani R, Friedman DJ, Pollak MR.

PLoS One. 2015 May 1;10(5):e0125410. doi: 10.1371/journal.pone.0125410. eCollection 2015.

48.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
49.

Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1.

Nichols B, Jog P, Lee JH, Blackler D, Wilmot M, D'Agati V, Markowitz G, Kopp JB, Alper SL, Pollak MR, Friedman DJ.

Kidney Int. 2015 Feb;87(2):332-42. doi: 10.1038/ki.2014.270. Epub 2014 Aug 6.

50.

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.

Am J Hematol. 2014 Dec;89(12):1142-6. doi: 10.1002/ajh.23799. Epub 2014 Jul 21. No abstract available.

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