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Items: 1 to 20 of 379

1.
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
AbstractArticlePDF–1.9M
2.
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
AbstractArticlePDF–1.1M
3.
Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension
Fan Yang, Dan Wang, Xuehua Zhang, Haoqin Fan, Yu Zheng, Zhenghui Xiao, Zhi Chen, Yunbin Xiao, Qiming Liu
Front Cardiovasc Med. 2022; 9: 1058569. Published online 2023 Jan 9. doi: 10.3389/fcvm.2022.1058569
PMCID:
PMC9868236
AbstractArticlePDF–3.1M
4.
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
AbstractArticlePDF–1020K
5.
Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature
Elias Edward Lahham, Juhina Jamal Hasassneh, Dua Osamah Adawi, Mohamad Khaled Ismail
Oxf Med Case Reports. 2023 Nov; 2023(11): omad119. Published online 2023 Nov 28. doi: 10.1093/omcr/omad119
PMCID:
PMC10805608
AbstractArticlePDF–145K
6.
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis
Gisela G. Slaats, Gabrielle Wheway, Veronica Foletto, Katarzyna Szymanska, Bas W. M. van Balkom, Ive Logister, Krista Den Ouden, Mandy G. Keijzer-Veen, Marc R. Lilien, Nine V. Knoers, Colin A. Johnson, Rachel H. Giles
J Cell Sci. 2015 Dec 15; 128(24): 4550–4559. doi: 10.1242/jcs.176065
PMCID:
PMC4696498
AbstractArticle
7.
A reassessment of soluble urokinase-type plasminogen activator receptor in glomerular disease
Joann M. Spinale, Laura H. Mariani, Shiv Kapoor, Jidong Zhang, Robert Weyant, Peter X. Song, Hetty N. Wong, Jonathan P. Troost, Crystal A. Gadegbeku, Debbie S. Gipson, Matthias Kretzler, Deepak Nihalani, Lawrence B. Holzman, the Investigators of the Nephrotic Syndrome Study Network
Kidney Int. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Kidney Int. 2015 Mar; 87(3): 564–574. Published online 2014 Oct 29. doi: 10.1038/ki.2014.346
PMCID:
PMC4344842
AbstractArticlePDF–720K
8.
Uric Acid and the Prediction Models of Tumor Lysis Syndrome in AML
A. Ahsan Ejaz, Negiin Pourafshar, Rajesh Mohandas, Bryan A. Smallwood, Richard J. Johnson, Jack W. Hsu
PLoS One. 2015; 10(3): e0119497. Published online 2015 Mar 16. doi: 10.1371/journal.pone.0119497
PMCID:
PMC4361475
AbstractArticlePDF–1.4M
9.
Extracorporeal Membrane Oxygenation as Bridge-to-Decision in Acute Heart Failure due to Systemic Light-Chain Amyloidosis
Jennifer Mancio Silva, Ricardo Fontes-Carvalho, Dília Valente, Cristiana Almeida, António José Cruz, David Tente, Henrique Coelho, Marco Oliveira, Aníbal Albuquerque, Vasco Gama Ribeiro
Am J Case Rep. 2015; 16: 174–181. Published online 2015 Mar 24. doi: 10.12659/AJCR.892772
PMCID:
PMC4373156
AbstractArticlePDF–1.9M
10.
Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
Mustafa Sevinc, Taner Basturk, Tuncay Sahutoglu, Tamer Sakaci, Yener Koc, Elbis Ahbap, Cuneyt Akgol, Ekrem Kara, Vicky Brocklebank, Tim HJ Goodship, David Kavanagh, Abdulkadir Unsal
J Med Case Rep. 2015; 9: 92. Published online 2015 Apr 29. doi: 10.1186/s13256-015-0575-y
PMCID:
PMC4423495
AbstractArticlePDF–634K
11.
Seven weeks of Western diet in apolipoprotein-E-deficient mice induce metabolic syndrome and non-alcoholic steatohepatitis with liver fibrosis
Robert Schierwagen, Lara Maybüchen, Sebastian Zimmer, Kanishka Hittatiya, Christer Bäck, Sabine Klein, Frank E. Uschner, Winfried Reul, Peter Boor, Georg Nickenig, Christian P. Strassburg, Christian Trautwein, Jogchum Plat, Dieter Lütjohann, Tilman Sauerbruch, Frank Tacke, Jonel Trebicka
Sci Rep. 2015; 5: 12931. Published online 2015 Aug 11. doi: 10.1038/srep12931
PMCID:
PMC4531783
AbstractArticlePDF–2.5M
12.
Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection
Nadine M. Lerret, Ting Li, Jiao-Jing Wang, Hee-Kap Kang, Sheng Wang, Xueqiong Wang, Chunfa Jie, Yashpal S. Kanwar, Michael M. Abecassis, Xunrong Luo, Zheng Zhang
J Am Soc Nephrol. 2015 Nov; 26(11): 2753–2764. Published online 2015 Mar 18. doi: 10.1681/ASN.2014080813
PMCID:
PMC4625673
AbstractArticle
13.
High-fat diet amplifies renal renin angiotensin system expression, blood pressure elevation, and renal dysfunction caused by Ceacam1 null deletion
Caixia Li, Silas A. Culver, Syed Quadri, Kelly L. Ledford, Qusai Y. Al-Share, Hilda E. Ghadieh, Sonia M. Najjar, Helmy M. Siragy
Am J Physiol Endocrinol Metab. 2015 Nov 1; 309(9): E802–E810. Published online 2015 Sep 15. doi: 10.1152/ajpendo.00158.2015
PMCID:
PMC4628940
AbstractArticle
14.
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
Cristina Cabrera-López, Gemma Bullich, Teresa Martí, Violeta Català, Jose Ballarín, John J. Bissler, Peter C. Harris, Elisabet Ars, Roser Torra
BMC Med Genet. 2015; 16: 39. Published online 2015 Jun 17. doi: 10.1186/s12881-015-0185-y
PMCID:
PMC4631093
AbstractArticlePDF–1.2M
15.
Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach
An S. De Vriese, Sanjeev Sethi, Jens Van Praet, Karl A. Nath, Fernando C. Fervenza
J Am Soc Nephrol. 2015 Dec; 26(12): 2917–2929. Published online 2015 Jul 16. doi: 10.1681/ASN.2015020184
PMCID:
PMC4657846
AbstractArticle
16.
Lack of Association between Genetic Risk Loci for Restless Legs Syndrome and Multimorbidity
András Szentkirályi, Henry Völzke, Wolfgang Hoffmann, Julianne Winkelmann, Klaus Berger
Sleep. 2016 Jan 1; 39(1): 111–115. Published online 2016 Jan 1. doi: 10.5665/sleep.5328
PMCID:
PMC4678341
AbstractArticlePDF–279K
17.
Toll-like receptor 3 ligand, polyIC, induces proteinuria and glomerular CD80, and increases urinary CD80 in mice
Takuji Ishimoto, Michiko Shimada, Garcia Gabriela, Tomoki Kosugi, Waichi Sato, Pui Y. Lee, Miguel A. Lanaspa, Christopher Rivard, Shoichi Maruyama, Eduardo H. Garin, Richard J. Johnson
Nephrol Dial Transplant. 2013 Jun; 28(6): 1439–1446. Published online 2012 Dec 21. doi: 10.1093/ndt/gfs543
PMCID:
PMC4318967
AbstractArticlePDF–469K
18.
Farnesoid X Receptor Protects against Kidney Injury in Uninephrectomized Obese Mice
Zhibo Gai, Ting Gui, Christian Hiller, Gerd A. Kullak-Ublick
J Biol Chem. 2016 Jan 29; 291(5): 2397–2411. Published online 2015 Dec 11. doi: 10.1074/jbc.M115.694323
PMCID:
PMC4732222
AbstractArticlePDF–8.1M
19.
FAT1 mutations cause a glomerulotubular nephropathy
Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
Nat Commun. 2016; 7: 10822. Published online 2016 Feb 24. doi: 10.1038/ncomms10822
PMCID:
PMC4770090
AbstractArticlePDF–1.4M
20.
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Jamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, Anne-Sophie Jourdain, José Guerra, Anne Dieux-Coeslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier-Hanu, Fabienne Escande
Eur J Hum Genet. 2016 Jan; 24(1): 44–50. Published online 2015 Apr 22. doi: 10.1038/ejhg.2015.77
PMCID:
PMC4795216
AbstractArticlePDF–843K

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