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Summary Literature (5)
Literature for OMIM 607364: BARTTER SYNDROME, TYPE 3; BARTS3


Xenbase Articles:
( Denotes literature images)
Molecular switch for CLC-K Cl- channel block/activation: optimal pharmacophoric requirements towards high-affinity ligands., Liantonio A,Picollo A,Carbonara G,Fracchiolla G,Tortorella P,Loiodice F,Laghezza A,Babini E,Zifarelli G,Pusch M,Camerino DC, Proc Natl Acad Sci U S A. January 29, 2008; 105(4):1091-6490.
Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Subrizi AE,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW, Genome Biol. January 1, 2008; 9(5):1474-760X.
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.
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. January 1, 2020; 41(4):1098-1004.