Bartter disease

Literature (8)

Literature for DOID 445: Bartter disease

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

:
(

Denotes literature images)

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.
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.
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.
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.
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.
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.
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.

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.

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.

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.

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.

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.

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.

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.