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XB--479924
Papers associated with slc12a1 (and Disease Ontology)
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HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes., Grand K, Stoltz M, Rizzo L, Röck R, Kaminski MM, Salinas G, Getwan M, Naert T, Pichler R, Lienkamp SS., J Am Soc Nephrol. March 1, 2023; 34 (3): 412-432.  |
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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M, Hoppmann A, Schlosser P, Grand K, Song W, Diehl R, Schroda S, Heeg F, Deutsch K, Hildebrandt F, Lausch E, Köttgen A, Lienkamp SS., Proc Natl Acad Sci U S A. September 28, 2021; 118 (39):  |
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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F., J Am Soc Nephrol. March 1, 2021; 32 (3): 580-596.  |
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect., McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E., Brain. August 1, 2020; 143 (8): 2380-2387. |
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Polycystin 1 loss of function is directly linked to an imbalance in G-protein signaling in the kidney., Zhang B, Tran U, Wessely O., Development. March 22, 2018; 145 (6):  |
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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):  |
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The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A., Lykke K, Töllner K, Feit PW, Erker T, MacAulay N, Löscher W., Epilepsy Behav. June 1, 2016; 59 42-9. |
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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS., Nat Genet. August 1, 2013; 45 (8): 951-6.  |
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Xenopus as a model system for the study of GOLPH2/GP73 function: Xenopus GOLPH2 is required for pronephros development., Li L, Wen L, Gong Y, Mei G, Liu J, Chen Y, Peng T., PLoS One. January 1, 2012; 7 (6): e38939.  |
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Inversin relays Frizzled-8 signals to promote proximal pronephros development., Lienkamp S, Ganner A, Boehlke C, Schmidt T, Arnold SJ, Schäfer T, Romaker D, Schuler J, Hoff S, Powelske C, Eifler A, Krönig C, Bullerkotte A, Nitschke R, Kuehn EW, Kim E, Burkhardt H, Brox T, Ronneberger O, Gloy J, Walz G., Proc Natl Acad Sci U S A. November 23, 2010; 107 (47): 20388-93.  |
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The miR-30 miRNA family regulates Xenopus pronephros development and targets the transcription factor Xlim1/Lhx1., Agrawal R, Tran U, Wessely O., Development. December 1, 2009; 136 (23): 3927-36.  |
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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): R84.  |
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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): 6540-7. |
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