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XB--479124
Papers associated with slc4a4 (and OMIM)
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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): F771-F784. |
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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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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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Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation., Streets AJ, Wessely O, Peters DJ, Ong AC., Hum Mol Genet. May 15, 2013; 22 (10): 1924-39. |
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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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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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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, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF., J Biol Chem. December 10, 2004; 279 (50): 52238-46. |
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