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XB--866804
Papers associated with slc12a3 (and OMIM)
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Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder., Jiang L, Peng X, Zhao B, Zhang L, Xu L, Li X, Nie M, Chen L., Endocr Connect. January 27, 2022; 11 (1): |
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Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS., Development. November 1, 2021; 148 (21):  |
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A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W, Huang X, Liu Y, Lv Q, Li T, Song Y, Zhang X, Chen X, Shi Y., J Endocrinol Invest. March 1, 2021; 44 (3): 471-480. |
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Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome., Greenberg RS, Long HK, Swigut T, Wysocka J., Cell. September 5, 2019; 178 (6): 1421-1436.e24.  |
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The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome., Lasser M, Pratt B, Monahan C, Kim SW, Lowery LA., Front Physiol. January 1, 2019; 10 817.  |
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Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC., Argaiz ER, Chavez-Canales M, Ostrosky-Frid M, Rodríguez-Gama A, Vázquez N, Gonzalez-Rodriguez X, Garcia-Valdes J, Hadchouel J, Ellison D, Gamba G., Am J Physiol Renal Physiol. September 1, 2018; 315 (3): F734-F745. |
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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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Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions., Ruffolo G, Iyer A, Cifelli P, Roseti C, Mühlebner A, van Scheppingen J, Scholl T, Hainfellner JA, Feucht M, Krsek P, Zamecnik J, Jansen FE, Spliet WG, Limatola C, Aronica E, Palma E., Neurobiol Dis. November 1, 2016; 95 93-101. |
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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 Effect of WNK4 on the Na+-Cl- Cotransporter Is Modulated by Intracellular Chloride., Bazúa-Valenti S, Chávez-Canales M, Rojas-Vega L, González-Rodríguez X, Vázquez N, Rodríguez-Gama A, Argaiz ER, Melo Z, Plata C, Ellison DH, García-Valdés J, Hadchouel J, Gamba G., J Am Soc Nephrol. August 1, 2015; 26 (8): 1781-6. |
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Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3., McCormick JA, Yang CL, Zhang C, Davidge B, Blankenstein KI, Terker AS, Yarbrough B, Meermeier NP, Park HJ, McCully B, West M, Borschewski A, Himmerkus N, Bleich M, Bachmann S, Mutig K, Argaiz ER, Gamba G, Singer JD, Ellison DH., J Clin Invest. November 1, 2014; 124 (11): 4723-36. |
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MicroRNAs are critical regulators of tuberous sclerosis complex and mTORC1 activity in the size control of the Xenopus kidney., Romaker D, Kumar V, Cerqueira DM, Cox RM, Wessely O., Proc Natl Acad Sci U S A. April 29, 2014; 111 (17): 6335-40.  |
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Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1., Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B., Nat Genet. May 13, 2012; 44 (6): 709-13.  |
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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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Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome., De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ., J Am Soc Nephrol. June 1, 2002; 13 (6): 1442-8. |
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