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XB--484830
Papers associated with atp1a1 (and Disease Ontology)
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Developmental regulation of cellular metabolism is required for intestinal elongation and rotation., Grzymkowski JK, Chiu YC, Jima DD, Wyatt BH, Jayachandran S, Stutts WL, Nascone-Yoder NM., Development. February 15, 2024; 151 (4):  |
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Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N, Igawa T, Suzuki M, Tazawa I, Nakao Y, Hayashi T, Suzuki N, Ogino H., Dev Growth Differ. October 1, 2023; 65 (8): 481-497.  |
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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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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):  |
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A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5)., Shalomov B, Handklo-Jamal R, Reddy HP, Theodor N, Bera AK, Dascal N., J Physiol. March 1, 2022; 600 (6): 1419-1437. |
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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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Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J, Bhattacharya D, Lusk CP, Khokha MK., Dev Biol. January 1, 2021; 469 46-53.  |
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On the effect of hyperaldosteronism-inducing mutations in Na/K pumps., Meyer DJ, Gatto C, Artigas P., J Gen Physiol. November 6, 2017; 149 (11): 1009-1028.  |
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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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Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing., del Viso F, Bhattacharya D, Kong Y, Gilchrist MJ, Khokha MK., BMC Genomics. November 21, 2012; 13 649.  |
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Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB, Zifarelli G, Qiu LY, Schwarz W, De Pont JJ, Bamberg E, Friedrich T., Biochim Biophys Acta. May 15, 2005; 1669 (1): 61-8. |
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