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Summary Expression Phenotypes Gene Literature (168) GO Terms (13) Nucleotides (51) Proteins (32) Interactants (654) Wiki
XB--866804

Papers associated with slc12a3 (and Disease Ontology)



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Functions of block of proliferation 1 during anterior development in Xenopus laevis., Gärtner C, Meßmer A, Dietmann P, Kühl M, Kühl SJ., PLoS One. August 2, 2022; 17 (8): e0273507.                        


Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components., Hantel F, Liu H, Fechtner L, Neuhaus H, Ding J, Arlt D, Walentek P, Villavicencio-Lorini P, Gerhardt C, Hollemann T, Pfirrmann T., J Cell Sci. May 1, 2022; 135 (9):                                     


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):


16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M, Bolduc J, Murphy L, O'Brien C, Lee S, Girirajan S, Lowery LA., Front Genet. January 1, 2022; 13 833083.                        


The Ribosomal Protein L5 Functions During Xenopus Anterior Development Through Apoptotic Pathways., Schreiner C, Kernl B, Dietmann P, Riegger RJ, Kühl M, Kühl SJ., Front Cell Dev Biol. January 1, 2022; 10 777121.                        


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):                                                                 


Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H, Okano H., Regen Ther. August 24, 2021; 18 275-280.      


Retinol binding protein 1 affects Xenopus anterior neural development via all-trans retinoic acid signaling., Flach H, Basten T, Schreiner C, Dietmann P, Greco S, Nies L, Roßmanith N, Walter S, Kühl M, Kühl SJ., Dev Dyn. August 1, 2021; 250 (8): 1096-1112.                


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.


Building neuromuscular junctions in vitro., Barbeau S, Tahraoui-Bories J, Legay C, Martinat C., Development. November 16, 2020; 147 (22):       


Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK., J Clin Invest. February 3, 2020; 130 (2): 813-826.                                


The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis., Naef V, De Sarlo M, Testa G, Corsinovi D, Azzarelli R, Borello U, Ori M., Front Cell Dev Biol. January 1, 2020; 8 549533.            


FoxN3 is necessary for the development of the interatrial septum, the ventricular trabeculae and the muscles at the head/trunk interface in the African clawed frog, Xenopus laevis (Lissamphibia: Anura: Pipidae)., Naumann B, Schmidt J, Olsson L., Dev Dyn. May 1, 2019; 248 (5): 323-336.          


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.                    


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.


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):                         


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.


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):             


Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling., Tutakhel OA, Jeleń S, Valdez-Flores M, Dimke H, Piersma SR, Jimenez CR, Deinum J, Lenders JW, Hoenderop JG, Bindels RJ., Am J Physiol Renal Physiol. February 1, 2016; 310 (3): F204-16.


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.


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.


The Xenopus Tgfbi is required for embryogenesis through regulation of canonical Wnt signalling., Wang F, Hu W, Xian J, Ohnuma S, Brenton JD., Dev Biol. July 1, 2013; 379 (1): 16-27.                            


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.                          


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.              


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.                                                                        


The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D, Cristóbal PS, Meade P, Moreno E, Vazquez N, Muñoz E, Díaz A, Juárez ME, Giménez I, Gamba G., J Biol Chem. September 29, 2006; 281 (39): 28755-63.


WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway., de Los Heros P, Kahle KT, Rinehart J, Bobadilla NA, Vázquez N, San Cristobal P, Mount DB, Lifton RP, Hebert SC, Gamba G., Proc Natl Acad Sci U S A. February 7, 2006; 103 (6): 1976-81.


WNK kinases and the control of blood pressure., Cope G, Golbang A, O'Shaughnessy KM., Pharmacol Ther. May 1, 2005; 106 (2): 221-31.


A single nucleotide polymorphism alters the activity of the renal Na+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity., Moreno E, Tovar-Palacio C, de los Heros P, Guzmán B, Bobadilla NA, Vázquez N, Riccardi D, Poch E, Gamba G., J Biol Chem. April 16, 2004; 279 (16): 16553-60.


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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