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

por Vichot, Alfred A., Zsengellér, Zsuzsanna K., Shmukler, Boris E., Adams, Nancy D., Dahl, Neera K., Alper, Seth L.
Publicado 2017

Erythroid‐specific inactivation of Slc12a6/Kcc3 by EpoR promoter‐driven Cre expression reduces K‐Cl cotransport activity in mouse erythrocytes

por Shmukler, Boris E., Rivera, Alicia, Nishimura, Katherine, Hsu, Ann, Wohlgemuth, Jay G., Dlott, Jeffrey S., Michael Snyder, L., Brugnara, Carlo, Alper, Seth L.
Publicado 2022

Hypoxia Activates a Ca(2+)-Permeable Cation Conductance Sensitive to Carbon Monoxide and to GsMTx-4 in Human and Mouse Sickle Erythrocytes

por Vandorpe, David H., Xu, Chang, Shmukler, Boris E., Otterbein, Leo E., Trudel, Marie, Sachs, Frederick, Gottlieb, Philip A., Brugnara, Carlo, Alper, Seth L.
Publicado 2010

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

por Gnanasambandam, Radhakrishnan, Rivera, Alicia, Vandorpe, David H., Shmukler, Boris E., Brugnara, Carlo, Snyder, L. Michael, Andolfo, Immacolata, Iolascon, Achille, Silveira, Paulo A., Hamerschlak, Nelson, Gottlieb, Philip, Alper, Seth L.
Publicado 2018

A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies

por 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.
Publicado 2021

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

por Reimold, Fabian R., Balasubramanian, Savithri, Doroquez, David B., Shmukler, Boris E., Zsengeller, Zsuzsanna K., Saslowsky, David, Thiagarajah, Jay R., Stillman, Isaac E., Lencer, Wayne I., Wu, Bai-Lin, Villalpando-Carrion, Salvador, Alper, Seth L.
Publicado 2015

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

por 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.
Publicado 2016