Search Results - "Shmukler, Boris"

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 by Andolfo, Immacolata, Alper, Seth L., De Franceschi, Lucia, Auriemma, Carla, Russo, Roberta, De Falco, Luigia, Vallefuoco, Fara, Esposito, Maria Rosaria, Vandorpe, David H., Shmukler, Boris E., Narayan, Rupa, Montanaro, Donatella, D'Armiento, Maria, Vetro, Annalisa, Limongelli, Ivan, Zuffardi, Orsetta, Glader, Bertil E., Schrier, Stanley L., Brugnara, Carlo, Stewart, Gordon W., Delaunay, Jean, Iolascon, Achille

“…Autosomal dominant dehydrated hereditary stomatocytosis (DHSt) usually presents as a compensated hemolytic anemia with macrocytosis and abnormally shaped red…”
Get full text

Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke by Begum, Gulnaz, Yuan, Hui, Kahle, Kristopher T, Li, Liaoliao, Wang, Shaoxia, Shi, Yejie, Shmukler, Boris E, Yang, Sung-Sen, Lin, Shih-Hua, Alper, Seth L, Sun, Dandan

“…BACKGROUND AND PURPOSE—WNK kinases, including WNK3, and the associated downstream Ste20/SPS1-related proline-alanine–rich protein kinase (SPAK) and oxidative…”
Get full text

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) by Andolfo, Immacolata, Russo, Roberta, Manna, Francesco, Shmukler, Boris E., Gambale, Antonella, Vitiello, Giuseppina, De Rosa, Gianluca, Brugnara, Carlo, Alper, Seth L., Snyder, L. Michael, Iolascon, Achille

“…Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis…”
Get full text

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis by Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F, Majmundar, Amar J, Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E, Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F, Fathy, Hanan M, Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A, Mane, Shrikant, Lifton, Richard P, Kane, Patricia M, Alper, Seth L, Hildebrandt, Friedhelm

“…Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations…”
Get more information

A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies by Vandorpe, David H., Shmukler, Boris E., Ilboudo, Yann, Bhasin, Swati, Thomas, Beena, Rivera, Alicia, Wohlgemuth, Jay G., Dlott, Jeffrey S., Snyder, L. Michael, Sieff, Colin, Bhasin, Manoj, Lettre, Guillaume, Brugnara, Carlo, Alper, Seth L.

Get full text

Functional kinomics establishes a critical node of volume-sensitive cation-Cl− cotransporter regulation in the mammalian brain by Zhang, Jinwei, Gao, Geng, Begum, Gulnaz, Wang, Jinhua, Khanna, Arjun R., Shmukler, Boris E., Daubner, Gerrit M., de los Heros, Paola, Davies, Paul, Varghese, Joby, Bhuiyan, Mohammad Iqbal H., Duan, Jinjing, Zhang, Jin, Duran, Daniel, Alper, Seth L., Sun, Dandan, Elledge, Stephen J., Alessi, Dario R., Kahle, Kristopher T.

“…Cell volume homeostasis requires the dynamically regulated transport of ions across the plasmalemma. While the ensemble of ion transport proteins involved in…”
Get full text

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells by Rivera, Alicia, Vandorpe, David H, Shmukler, Boris E, Andolfo, Immacolata, Iolascon, Achille, Archer, Natasha M, Shabani, Estela, Auerbach, Michael, Hamerschlak, Nelson, Morton, James, Wohlgemuth, Jay G, Brugnara, Carlo, Snyder, L Michael, Alper, Seth L

“…Hereditary xerocytosis (HX) is caused by missense mutations in either the mechanosensitive cation channel PIEZO1 or the Ca -activated K channel KCNN4. All…”
Get more information

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia by Andolfo, Immacolata, Alper, Seth L., Delaunay, Jean, Auriemma, Carla, Russo, Roberta, Asci, Roberta, Esposito, Maria Rosaria, Sharma, Alok K., Shmukler, Boris E., Brugnara, Carlo, De Franceschi, Lucia, Iolascon, Achille

“…Familial Pseudohyperkalemia (FP) is a dominant red cell trait characterized by increased serum [K+] in whole blood stored at or below room temperature, without…”
Get full text

Trpv1 and Trpa1 are not essential for Psickle-like activity in red cells of the SAD mouse model of sickle cell disease by Vandorpe, David H., Rivera, Alicia, Shmukler, Boris E., Wohlgemuth, Jay G., Dlott, Jeffrey S., Snyder, L. Michael, Trudel, Marie, Brugnara, Carlo, Alper, Seth L.

“…The molecular identity of Psickle, the deoxygenation-activated cation conductance of the human sickle erythrocyte, remains unknown. We observed in human sickle…”
Get full text

Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease by Shmukler, Boris E., Rivera, Alicia, Bhargava, Parul, Nishimura, Katherine, Hsu, Ann, Kim, Edward H., Trudel, Marie, Rust, Marco B., Hubner, Christian A., Brugnara, Carlo, Alper, Seth L.

“…Excessive red cell dehydration contributes to the pathophysiology of sickle cell disease (SCD). The densest fraction of sickle red cells (with the highest…”
Get full text

Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes by Vandorpe, David H, Xu, Chang, Shmukler, Boris E, Otterbein, Leo E, Trudel, Marie, Sachs, Frederick, Gottlieb, Philip A, Brugnara, Carlo, Alper, Seth L

“…Deoxygenation of sickle erythrocytes activates a cation permeability of unknown molecular identity (Psickle), leading to elevated intracellular [Ca(2+)]…”
Get full text

SLC26 anion exchangers of guinea pig pancreatic duct: molecular cloning and functional characterization by Stewart, Andrew K, Shmukler, Boris E, Vandorpe, David H, Reimold, Fabian, Heneghan, John F, Nakakuki, M, Akhavein, Arash, Ko, Shigeru, Ishiguro, Hiroshi, Alper, Seth L

“…The secretin-stimulated human pancreatic duct secretes HCO(3)(-)-rich fluid essential for normal digestion. Optimal stimulation of pancreatic HCO(3)(-)…”
Get more information

Hereditary xerocytosis revisited by Archer, Natasha M., Shmukler, Boris E., Andolfo, Immacolata, Vandorpe, David H., Gnanasambandam, Radhakrishnan, Higgins, John M., Rivera, Alicia, Fleming, Mark D., Sachs, Frederick, Gottlieb, Philip A., Iolascon, Achille, Brugnara, Carlo, Alper, Seth L., Nathan, David G.

“…A 21 year old male student presented in 1980 as an Olympic athlete with a 12 year history of jaundice, pallor, and darkened urine induced by the atraumatic…”
Get full text

Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel‐like activity inhibited by senicapoc by Rivera, Alicia, Vandorpe, David H., Shmukler, Boris E., Gallagher, Denis R., Fikry, Christopher C., Kuypers, Frans A., Brugnara, Carlo, Snyder, L. Michael, Alper, Seth L.

Get full text

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia by Shmukler, Boris E., Rivera, Alicia, Bhargava, Parul, Nishimura, Katherine, Kim, Edward H., Hsu, Ann, Wohlgemuth, Jay G., Morton, James, Snyder, L. Michael, De Franceschi, Lucia, Rust, Marco B., Hubner, Christian A., Brugnara, Carlo, Alper, Seth L.

“…β-thalassemia (β-Thal) is caused by defective β-globin production leading to globin chain imbalance, aggregation of free alpha chain in developing…”
Get full text

Distal renal tubular acidosis in mice lacking the AE1 (Band3) Cl- /HCO3- exchanger (slc4al) by STEHBERGER, Paul A, SHMUKLER, Boris E, STUART-TILLEY, Alan K, PETERS, Luanne L, ALPER, Seth L, WAGNER, Carsten A

“…Mutations in the human gene that encodes the AE1 Cl(-)/HCO(3)(-) exchanger (SLC4A1) cause autosomal recessive and dominant forms of distal renal tubular…”
Get full text

Regulated transport of sulfate and oxalate by SLC26A2/DTDST by Heneghan, John F, Akhavein, Arash, Salas, Maria J, Shmukler, Boris E, Karniski, Lawrence P, Vandorpe, David H, Alper, Seth L

“…Nephrolithiasis in the Slc26a6(-/-) mouse is accompanied by 50-75% reduction in intestinal oxalate secretion with unchanged intestinal oxalate absorption. The…”
Get more information

Erythroid‐specific inactivation of Slc12a6/Kcc3 by EpoR promoter‐driven Cre expression reduces K‐Cl cotransport activity in mouse erythrocytes by Shmukler, Boris E., Rivera, Alicia, Nishimura, Katherine, Hsu, Ann, Wohlgemuth, Jay G., Dlott, Jeffrey S., Michael Snyder, L., Brugnara, Carlo, Alper, Seth L.

“…Investigation of erythrocytes from spontaneous or engineered germ‐line mutant mice has been instrumental in characterizing the physiological functions of…”
Get full text

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report by Shmukler, Boris E., Vandorpe, David H., Rivera, Alicia, Auerbach, Michael, Brugnara, Carlo, Alper, Seth L.

Get full text

Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia by Shmukler, Boris E, Huston, Nicholas C, Thon, Jonathan N, Ni, Chih-Wen, Kourkoulis, George, Lawson, Nathan D, Paw, Barry H, Alper, Seth L

Get full text