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Select item 81237611.

Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome

Yi Zhou, Cheng Zhong, Qin Yang, Gaofu Zhang, Haiping Yang, Qiu Li, Mo Wang

Mol Genet Genomic Med. 2021 Apr; 9(4): e1650. Published online 2021 Mar 10. doi: 10.1002/mgg3.1650

PMCID:: PMC8123761

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Select item 38471962.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

Henry Rivera, Elena Martín-Hernández, Aitor Delmiro, María Teresa García-Silva, Pilar Quijada-Fraile, Rafael Muley, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín

BMC Nephrol. 2013; 14: 195. Published online 2013 Sep 13. doi: 10.1186/1471-2369-14-195

PMCID:: PMC3847196

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Select item 30357103.

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Ruth Belostotsky, Efrat Ben-Shalom, Choni Rinat, Rachel Becker-Cohen, Sofia Feinstein, Sharon Zeligson, Reeval Segel, Orly Elpeleg, Suheir Nassar, Yaacov Frishberg

Am J Hum Genet. 2011 Feb 11; 88(2): 193–200. doi: 10.1016/j.ajhg.2010.12.010

PMCID:: PMC3035710

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Select item 106095594.

Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance

Ana Andres-Hernando, David J. Orlicky, Masanari Kuwabara, Christina Cicerchi, Michelle Pedler, Mark J. Petrash, Richard J. Johnson, Dean R. Tolan, Miguel A. Lanaspa

Nutrients. 2023 Oct; 15(20): 4376. Published online 2023 Oct 16. doi: 10.3390/nu15204376

PMCID:: PMC10609559

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Select item 106051485.

Epithelial Transport in Disease: An Overview of Pathophysiology and Treatment

Vicente Javier Clemente-Suárez, Alexandra Martín-Rodríguez, Laura Redondo-Flórez, Carlota Valeria Villanueva-Tobaldo, Rodrigo Yáñez-Sepúlveda, José Francisco Tornero-Aguilera

Cells. 2023 Oct; 12(20): 2455. Published online 2023 Oct 15. doi: 10.3390/cells12202455

PMCID:: PMC10605148

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Select item 105932266.

Unanticipated domain requirements for Drosophila Wnk kinase in vivo

Prathibha Yarikipati, Sima Jonusaite, John M. Pleinis, Carihann Dominicci Cotto, David Sanchez-Hernandez, Daryl E. Morrison, Suhani Goyal, Jeffrey Schellinger, Clothilde Pénalva, Jennifer Curtiss, Aylin R. Rodan, Andreas Jenny

PLoS Genet. 2023 Oct; 19(10): e1010975. Published online 2023 Oct 11. doi: 10.1371/journal.pgen.1010975

PMCID:: PMC10593226

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Select item 105779377.

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

Prashant Sharma, Harish E. Chatrathi

Cell Commun Signal. 2023; 21: 286. Published online 2023 Oct 16. doi: 10.1186/s12964-023-01269-z

PMCID:: PMC10577937

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Select item 104113848.

Multiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia

Adrián R. Murillo-de-Ozores, Héctor Carbajal-Contreras, Germán R. Magaña-Ávila, Raquel Valdés, Leoneli I. Grajeda-Medina, Norma Vázquez, Teresa Zariñán, Alejandro López-Saavedra, Avika Sharma, Dao-Hong Lin, Wen-Hui Wang, Eric Delpire, David H. Ellison, Gerardo Gamba, María Castañeda-Bueno

Kidney Int. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Kidney Int. 2022 Nov; 102(5): 1030–1041. Published online 2022 Jul 21. doi: 10.1016/j.kint.2022.06.027

PMCID:: PMC10411384

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Select item 103712959.

Genome-wide Association Study for AKI

Pavan K. Bhatraju, Ian B. Stanaway, Melody R. Palmer, Rajasree Menon, Jennifer A. Schaub, Steven Menez, Anand Srivastava, F. Perry Wilson, Krzysztof Kiryluk, Paul M. Palevsky, Abhijit S. Naik, Sana S. Sakr, Gail P. Jarvik, Chirag R. Parikh, Lorraine B. Ware, T. Alp Ikizler, Edward D. Siew, Vernon M. Chinchilli, Steve G. Coca, Amit X. Garg, Alan S. Go, James S. Kaufman, Paul L. Kimmel, Jonathan Himmelfarb, Mark M. Wurfel

Kidney360. 2023 Jul; 4(7): 870–880. Published online 2023 Jun 5. doi: 10.34067/KID.0000000000000175

PMCID:: PMC10371295

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Select item 1021633310.

Organ Abnormalities Caused by Turner Syndrome

Sang Hoon Yoon, Ga Yeon Kim, Gyu Tae Choi, Jeong Tae Do

Cells. 2023 May; 12(10): 1365. Published online 2023 May 11. doi: 10.3390/cells12101365

PMCID:: PMC10216333

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Select item 1016858211.

Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome

Rodrigo Barbosa de Souza, Renan Barbosa Lemes, Orestes Foresto-Neto, Luara Lucena Cassiano, Dieter P. Reinhardt, Keith M. Meek, Ivan Hong Jun Koh, Philip N. Lewis, Lygia V. Pereira

PLoS One. 2023; 18(5): e0285418. Published online 2023 May 9. doi: 10.1371/journal.pone.0285418

PMCID:: PMC10168582

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Select item 1015898812.

Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab

Lakshmi Kannan

Am J Case Rep. 2023; 24: e938896-1–e938896-5. Published online 2023 Apr 30. doi: 10.12659/AJCR.938896

PMCID:: PMC10158988

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Select item 1014887513.

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, II, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

Nat Commun. 2023; 14: 2481. Published online 2023 Apr 29. doi: 10.1038/s41467-023-37985-w

PMCID:: PMC10148875

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Select item 1013440414.

Acute kidney injury overview: From basic findings to new prevention and therapy strategies

Sabrina Ribeiro Gonsalez, Aline Leal Cortês, Raquel Costa da Silva, Jennifer Lowe, Minolfa C. Prieto, Lucienne da Silva Lara

Pharmacol Ther. Author manuscript; available in PMC 2023 Apr 27.

Published in final edited form as: Pharmacol Ther. 2019 Aug; 200: 1–12. Published online 2019 Apr 6. doi: 10.1016/j.pharmthera.2019.04.001

PMCID:: PMC10134404

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Select item 1012376315.

The CYP/20-HETE/GPR75 axis in hypertension

Ghezal Froogh, Victor Garcia, Michal Laniado Schwartzman

Adv Pharmacol. Author manuscript; available in PMC 2023 Apr 24.

Published in final edited form as: Adv Pharmacol. 2022; 94: 1–25. Published online 2022 Mar 30. doi: 10.1016/bs.apha.2022.02.003

PMCID:: PMC10123763

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Select item 1010567416.

Pendrin abundance, subcellular distribution, and function are unaffected by either αENaC gene ablation or by increasing ENaC channel activity

Johannes Loffing, Vladimir Pech, Dominique Loffing-Cueni, Delaney C. Abood, Young Hee Kim, Chao Chen, Truyen D. Pham, Jill W. Verlander, Susan M. Wall

Pflugers Arch. 2023; 475(5): 607–620. Published online 2023 Mar 29. doi: 10.1007/s00424-023-02797-w

PMCID:: PMC10105674

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Select item 1008792617.

Early‐onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11

Olivia M. T. Davies, Ashley T. Ng, Jennifer Tran, Shoshana Blumenthal, Lisa M. Arkin, Amy J. Nopper, Catherine E. Cottrell, Maria Garzon, Dawn H. Siegel, Ilona J. Frieden, Beth A. Drolet

Pediatr Dermatol. 2022 Nov-Dec; 39(6): 914–919. Published online 2022 Aug 10. doi: 10.1111/pde.15103

PMCID:: PMC10087926

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Select item 1006032318.

Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression

Agnes Trautmann, Svenja Seide, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Maria Szczepanska, Marta Azocar, Augustina Jankauskiene, Alexandra Zurowska, Salim Caliskan, Bassam Saeed, William Morello, Francesco Emma, Mieczyslaw Litwin, Alexey Tsygin, Svitlana Fomina, Anna Wasilewska, Anette Melk, Elisa Benetti, Jutta Gellermann, Natasa Stajic, Marcin Tkaczyk, Sergey Baiko, Larisa Prikhodina, Dagmar Csaicsich, Anna Medynska, Regina Krisam, Heike Breitschwerdt, Franz Schaefer, for the PodoNet Consortium

Pediatr Nephrol. 2023; 38(5): 1499–1511. Published online 2022 Oct 31. doi: 10.1007/s00467-022-05762-4

PMCID:: PMC10060323

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Select item 1006028519.

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP

Jianyi Li, Xiaojun Su, Huanxi Zhang, Wenrui Wu, Jianming Li, Yanxu Chen, Jun Li, Qian Fu, Chenglin Wu, Xuhui Zhong, Changxi Wang, Longshan Liu

Pediatr Nephrol. 2023; 38(5): 1609–1620. Published online 2022 Oct 13. doi: 10.1007/s00467-022-05763-3

PMCID:: PMC10060285

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Select item 1001851420.

Renal mitochondrial injury in the pathogenesis of CKD: mtDNA and mitomiRs

Maria V. Irazabal, Alejandro R. Chade, Alfonso Eirin

Clin Sci (Lond) Author manuscript; available in PMC 2023 Mar 16.

Published in final edited form as: Clin Sci (Lond). 2022 Mar 18; 136(5): 345–360. doi: 10.1042/CS20210512

PMCID:: PMC10018514

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