renal tubular transport disease

Literature (38)

Literature for DOID 447: renal tubular transport disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability., Kahle KT,Rinehart J,de Los Heros P,Louvi A,Meade P,Vazquez N,Hebert SC,Gamba G,Gimenez I,Lifton RP, Proc Natl Acad Sci U S A. November 15, 2005; 102(46):1091-6490.
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization., Ludwig M,Doroszewicz J,Seyberth HW,Bökenkamp A,Balluch B,Nuutinen M,Utsch B,Waldegger S, Hum Genet. July 1, 2005; 117(2-3):1432-1203.
WNK kinases and the control of blood pressure., Cope G,Golbang A,O'Shaughnessy KM, Pharmacol Ther. May 1, 2005; 106(2):0163-7258.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia., Kahle KT,Gimenez I,Hassan H,Wilson FH,Wong RD,Forbush B,Aronson PS,Lifton RP, Proc Natl Acad Sci U S A. February 17, 2004; 101(7):1091-6490.
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells., Rungroj N,Devonald MA,Cuthbert AW,Reimann F,Akkarapatumwong V,Yenchitsomanus PT,Bennett WM,Karet FE, J Biol Chem. April 2, 2004; 279(14):1083-351X.
Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., De Jong JC,Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Knoers NV,Bindels RJ, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity., Hansson JH,Schild L,Lu Y,Wilson TA,Gautschi I,Shimkets R,Nelson-Williams C,Rossier BC,Lifton RP, Proc Natl Acad Sci U S A. December 5, 1995; 92(25):1091-6490.
Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel., McDonald FJ,Price MP,Snyder PM,Welsh MJ, Am J Physiol. May 1, 1995; 268(5 Pt 1):0002-9513.
The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.
A novel protein kinase signaling pathway essential for blood pressure regulation in humans., Kahle KT,Rinehart J,Giebisch G,Gamba G,Hebert SC,Lifton RP, Trends Endocrinol Metab. April 1, 2008; 19(3):1043-2760.
Small molecule activator of the human epithelial sodium channel., Lu M,Echeverri F,Kalabat D,Laita B,Dahan DS,Smith RD,Xu H,Staszewski L,Yamamoto J,Ling J,Hwang N,Kimmich R,Li P,Patron E,Keung W,Patron A,Moyer BD, J Biol Chem. May 2, 2008; 283(18):1083-351X.
Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.
Single-channel analysis of functional epithelial sodium channel (ENaC) stability at the apical membrane of A6 distal kidney cells., Yu L,Helms MN,Yue Q,Eaton DC, Am J Physiol Renal Physiol. November 1, 2008; 295(5):1522-1466.
A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels., Gradogna A,Babini E,Picollo A,Pusch M, J Gen Physiol. September 1, 2010; 136(3):1540-7748.
Proton block of the CLC-5 Cl-/H+ exchanger., Picollo A,Malvezzi M,Accardi A, J Gen Physiol. June 1, 2010; 135(6):1540-7748.
ATP induces conformational changes in the carboxyl-terminal region of ClC-5., Wellhauser L,Luna-Chavez C,D'Antonio C,Tainer J,Bear CE, J Biol Chem. February 25, 2011; 286(8):1083-351X.
Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC)., Krumm P,Giraldez T,Alvarez de la Rosa D,Clauss WG,Fronius M,Althaus M, Bioorg Med Chem. July 1, 2012; 20(13):1464-3391.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity., Srivastava S,Li D,Edwards N,Hynes AM,Wood K,Al-Hamed M,Wroe AC,Reaich D,Moochhala SH,Welling PA,Sayer JA, Physiol Rep. November 1, 2013; 1(6):2051-817X.
Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3., McCormick JA,Yang CL,Zhang C,Davidge B,Blankenstein KI,Terker AS,Yarbrough B,Meermeier NP,Park HJ,McCully B,West M,Borschewski A,Himmerkus N,Bleich M,Bachmann S,Mutig K,Argaiz ER,Gamba G,Singer JD,Ellison DH, J Clin Invest. November 1, 2014; 124(11):1558-8238.
State-dependent network connectivity determines gating in a K+ channel., Bollepalli MK,Fowler PW,Rapedius M,Shang L,Sansom MS,Tucker SJ,Baukrowitz T, Structure. July 8, 2014; 22(7):1878-4186.
Feedback inhibition of ENaC: acute and chronic mechanisms., Patel AB,Yang L,Deng S,Palmer LG, Channels (Austin). January 1, 2014; 8(5):1933-6969.
The Effect of WNK4 on the Na+-Cl- Cotransporter Is Modulated by Intracellular Chloride., Bazúa-Valenti S,Chávez-Canales M,Rojas-Vega L,González-Rodríguez X,Vázquez N,Rodríguez-Gama A,Argaiz ER,Melo Z,Plata C,Ellison DH,García-Valdés J,Hadchouel J,Gamba G, J Am Soc Nephrol. August 1, 2015; 26(8):1533-3450.
A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation., Satoh N,Yamada H,Yamazaki O,Suzuki M,Suzuki M,Nakamura M,Suzuki A,Ashida A,Yamamoto D,Kaku Y,Sekine T,Seki G,Horita S, Pflugers Arch. July 1, 2016; 468(7):1432-2013.
A novel mutant Na + /HCO3 - cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis., Myers EJ,Yuan L,Felmlee MA,Lin YY,Jiang Y,Pei Y,Wang O,Li M,Xing XP,Marshall A,Xia WB,Parker MD, J Physiol. November 1, 2016; 594(21):0022-3751.
ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation., Murthy M,Kurz T,O'Shaughnessy KM, Physiol Rep. July 1, 2016; 4(13):2051-817X.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y,Alekov A,Frachon N,Lahuna O,Jean-Baptiste Doh-Egueli C,Deschênes G,Vargas-Poussou R,Lourdel S, Hum Mutat. August 1, 2018; 39(8):1098-1004.
Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC., Argaiz ER,Chavez-Canales M,Ostrosky-Frid M,Rodríguez-Gama A,Vázquez N,Gonzalez-Rodriguez X,Garcia-Valdes J,Hadchouel J,Ellison D,Gamba G, Am J Physiol Renal Physiol. September 1, 2018; 315(3):1522-1466.
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. April 1, 2020; 41(4):1098-1004.
A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W,Huang X,Liu Y,Lv Q,Li T,Song Y,Zhang X,Chen X,Shi Y,Shi Y, J Endocrinol Invest. March 1, 2021; 44(3):0391-4097.
A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., Yamazaki O,Yamashita M,Li J,Ochiai-Homma F,Yoshida T,Hirahashi J,Furukawa T,Kozuma K,Fujigaki Y,Seki G,Hayashi M,Shibata S, Am J Physiol Renal Physiol. December 1, 2021; 321(6):1522-1466.
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L,Peng X,Zhao B,Zhang L,Xu L,Li X,Nie M,Chen L, Endocr Connect. January 27, 2022; 11(1):2049-3614.
Multistep mechanism of G-quadruplex resolution during DNA replication., Sato K,Martin-Pintado N,Post H,Altelaar M,Knipscheer P, Sci Adv. September 24, 2021; 7(39):2375-2548.
XPR1: a regulator of cellular phosphate homeostasis rather than a Pi exporter., Burns D,Berlinguer-Palmini R,Werner A, Pflugers Arch. March 20, 2024; :1432-2013.

The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.

WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability., Kahle KT,Rinehart J,de Los Heros P,Louvi A,Meade P,Vazquez N,Hebert SC,Gamba G,Gimenez I,Lifton RP, Proc Natl Acad Sci U S A. November 15, 2005; 102(46):1091-6490.

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization., Ludwig M,Doroszewicz J,Seyberth HW,Bökenkamp A,Balluch B,Nuutinen M,Utsch B,Waldegger S, Hum Genet. July 1, 2005; 117(2-3):1432-1203.

WNK kinases and the control of blood pressure., Cope G,Golbang A,O'Shaughnessy KM, Pharmacol Ther. May 1, 2005; 106(2):0163-7258.

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.

WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia., Kahle KT,Gimenez I,Hassan H,Wilson FH,Wong RD,Forbush B,Aronson PS,Lifton RP, Proc Natl Acad Sci U S A. February 17, 2004; 101(7):1091-6490.

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells., Rungroj N,Devonald MA,Cuthbert AW,Reimann F,Akkarapatumwong V,Yenchitsomanus PT,Bennett WM,Karet FE, J Biol Chem. April 2, 2004; 279(14):1083-351X.

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., De Jong JC,Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Knoers NV,Bindels RJ, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity., Hansson JH,Schild L,Lu Y,Wilson TA,Gautschi I,Shimkets R,Nelson-Williams C,Rossier BC,Lifton RP, Proc Natl Acad Sci U S A. December 5, 1995; 92(25):1091-6490.

Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel., McDonald FJ,Price MP,Snyder PM,Welsh MJ, Am J Physiol. May 1, 1995; 268(5 Pt 1):0002-9513.

The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.

Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.

A novel protein kinase signaling pathway essential for blood pressure regulation in humans., Kahle KT,Rinehart J,Giebisch G,Gamba G,Hebert SC,Lifton RP, Trends Endocrinol Metab. April 1, 2008; 19(3):1043-2760.

Small molecule activator of the human epithelial sodium channel., Lu M,Echeverri F,Kalabat D,Laita B,Dahan DS,Smith RD,Xu H,Staszewski L,Yamamoto J,Ling J,Hwang N,Kimmich R,Li P,Patron E,Keung W,Patron A,Moyer BD, J Biol Chem. May 2, 2008; 283(18):1083-351X.

Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.

Single-channel analysis of functional epithelial sodium channel (ENaC) stability at the apical membrane of A6 distal kidney cells., Yu L,Helms MN,Yue Q,Eaton DC, Am J Physiol Renal Physiol. November 1, 2008; 295(5):1522-1466.

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels., Gradogna A,Babini E,Picollo A,Pusch M, J Gen Physiol. September 1, 2010; 136(3):1540-7748.

Proton block of the CLC-5 Cl-/H+ exchanger., Picollo A,Malvezzi M,Accardi A, J Gen Physiol. June 1, 2010; 135(6):1540-7748.

ATP induces conformational changes in the carboxyl-terminal region of ClC-5., Wellhauser L,Luna-Chavez C,D'Antonio C,Tainer J,Bear CE, J Biol Chem. February 25, 2011; 286(8):1083-351X.

Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC)., Krumm P,Giraldez T,Alvarez de la Rosa D,Clauss WG,Fronius M,Althaus M, Bioorg Med Chem. July 1, 2012; 20(13):1464-3391.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity., Srivastava S,Li D,Edwards N,Hynes AM,Wood K,Al-Hamed M,Wroe AC,Reaich D,Moochhala SH,Welling PA,Sayer JA, Physiol Rep. November 1, 2013; 1(6):2051-817X.

Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3., McCormick JA,Yang CL,Zhang C,Davidge B,Blankenstein KI,Terker AS,Yarbrough B,Meermeier NP,Park HJ,McCully B,West M,Borschewski A,Himmerkus N,Bleich M,Bachmann S,Mutig K,Argaiz ER,Gamba G,Singer JD,Ellison DH, J Clin Invest. November 1, 2014; 124(11):1558-8238.

State-dependent network connectivity determines gating in a K+ channel., Bollepalli MK,Fowler PW,Rapedius M,Shang L,Sansom MS,Tucker SJ,Baukrowitz T, Structure. July 8, 2014; 22(7):1878-4186.

Feedback inhibition of ENaC: acute and chronic mechanisms., Patel AB,Yang L,Deng S,Palmer LG, Channels (Austin). January 1, 2014; 8(5):1933-6969.

The Effect of WNK4 on the Na+-Cl- Cotransporter Is Modulated by Intracellular Chloride., Bazúa-Valenti S,Chávez-Canales M,Rojas-Vega L,González-Rodríguez X,Vázquez N,Rodríguez-Gama A,Argaiz ER,Melo Z,Plata C,Ellison DH,García-Valdés J,Hadchouel J,Gamba G, J Am Soc Nephrol. August 1, 2015; 26(8):1533-3450.

A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation., Satoh N,Yamada H,Yamazaki O,Suzuki M,Suzuki M,Nakamura M,Suzuki A,Ashida A,Yamamoto D,Kaku Y,Sekine T,Seki G,Horita S, Pflugers Arch. July 1, 2016; 468(7):1432-2013.

A novel mutant Na + /HCO3 - cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis., Myers EJ,Yuan L,Felmlee MA,Lin YY,Jiang Y,Pei Y,Wang O,Li M,Xing XP,Marshall A,Xia WB,Parker MD, J Physiol. November 1, 2016; 594(21):0022-3751.

ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation., Murthy M,Kurz T,O'Shaughnessy KM, Physiol Rep. July 1, 2016; 4(13):2051-817X.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y,Alekov A,Frachon N,Lahuna O,Jean-Baptiste Doh-Egueli C,Deschênes G,Vargas-Poussou R,Lourdel S, Hum Mutat. August 1, 2018; 39(8):1098-1004.

Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC., Argaiz ER,Chavez-Canales M,Ostrosky-Frid M,Rodríguez-Gama A,Vázquez N,Gonzalez-Rodriguez X,Garcia-Valdes J,Hadchouel J,Ellison D,Gamba G, Am J Physiol Renal Physiol. September 1, 2018; 315(3):1522-1466.

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. April 1, 2020; 41(4):1098-1004.

A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W,Huang X,Liu Y,Lv Q,Li T,Song Y,Zhang X,Chen X,Shi Y,Shi Y, J Endocrinol Invest. March 1, 2021; 44(3):0391-4097.

A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., Yamazaki O,Yamashita M,Li J,Ochiai-Homma F,Yoshida T,Hirahashi J,Furukawa T,Kozuma K,Fujigaki Y,Seki G,Hayashi M,Shibata S, Am J Physiol Renal Physiol. December 1, 2021; 321(6):1522-1466.

Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L,Peng X,Zhao B,Zhang L,Xu L,Li X,Nie M,Chen L, Endocr Connect. January 27, 2022; 11(1):2049-3614.

Multistep mechanism of G-quadruplex resolution during DNA replication., Sato K,Martin-Pintado N,Post H,Altelaar M,Knipscheer P, Sci Adv. September 24, 2021; 7(39):2375-2548.

XPR1: a regulator of cellular phosphate homeostasis rather than a Pi exporter., Burns D,Berlinguer-Palmini R,Werner A, Pflugers Arch. March 20, 2024; :1432-2013.