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XB--482812
Papers associated with atp1b1 (and Disease Ontology)
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Xenopus Ssbp2 is required for embryonic pronephros morphogenesis and terminal differentiation., Cervino AS, Collodel MG, Lopez IA, Roa C, Hochbaum D, Hukriede NA, Cirio MC., Sci Rep. October 4, 2023; 13 (1): 16671.  |
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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K., J Neurol. May 1, 2023; 270 (5): 2576-2590.  |
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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity., Lazarov E, Hillebrand M, Schröder S, Ternka K, Hofhuis J, Ohlenbusch A, Barrantes-Freer A, Pardo LA, Fruergaard MU, Nissen P, Brockmann K, Gärtner J, Rosewich H., Neurobiol Dis. September 1, 2020; 143 105012.  |
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The atypical mitogen-activated protein kinase ERK3 is essential for establishment of epithelial architecture., Takahashi C, Miyatake K, Kusakabe M, Nishida E., J Biol Chem. June 1, 2018; 293 (22): 8342-8361.  |
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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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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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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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