Dent disease

Literature (6)

Literature for DOID 0050699: Dent disease

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

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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.
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.
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.
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 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.

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.

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.

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.

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 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.