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Items: 1 to 20 of 66

1.
Hiding In Plain Sight: Genetics of Childhood Steroid-Resistant Nephrotic Syndrome in Sub-Saharan Africa
AE Williams, CI Esezobor, BM Lane, RA Gbadegesin
Pediatr Nephrol. Author manuscript; available in PMC 2023 Aug 11.
Published in final edited form as: Pediatr Nephrol. 2023 Jul; 38(7): 2003–2012. Published online 2022 Dec 2. doi: 10.1007/s00467-022-05831-8
PMCID:
PMC10416081
ArticlePubReaderPDF–400KCite
2.
Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome
Mallory L. Downie, Sanjana Gupta, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Jingjing Cao, Rulan S. Parekh, Carmen Bugarin Diz, Agnieszka Bierzynska, Adam P. Levine, Ruth J. Pepper, Horia Stanescu, Moin A. Saleem, Robert Kleta, Detlef Bockenhauer, Ania B. Koziell, Daniel P. Gale
Pediatr Nephrol. 2023; 38(6): 1793–1800. Published online 2022 Nov 10. doi: 10.1007/s00467-022-05789-7
PMCID:
PMC10154254
ArticlePubReaderPDF–591KCite
3.
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
ArticlePubReaderPDF–1.8MCite
4.
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria
Hongbo Xiao, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2023 Mar 28.
Published in final edited form as: Pediatr Nephrol. 2022 Jul; 37(7): 1567–1574. Published online 2021 Nov 11. doi: 10.1007/s00467-021-05312-4
PMCID:
PMC10043783
ArticlePubReaderPDF–345KCite
5.
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome
Tomoko Horinouchi, Kandai Nozu, Kazumoto Iijima
Pediatr Nephrol. 2022; 37(9): 1957–1965. Published online 2022 Jan 10. doi: 10.1007/s00467-021-05401-4
PMCID:
PMC9307535
ArticlePubReaderPDF–655KCite
6.
A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy
Xiao-qing Yang, Tong Shen
BMC Nephrol. 2022; 23: 250. Published online 2022 Jul 14. doi: 10.1186/s12882-022-02872-x
PMCID:
PMC9284822
ArticlePubReaderPDF–1.1MCite
7.
Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome
Hao Lee, Li Wang, Fen-Fen Ni, Xue-Ying Yang, Shi-Pin Feng, Xiao-Jie Gao, Huan Chi, Ye-Tao Luo, Xue-Lan Chen, Bao-Hui Yang, Jun-Li Wan, Jia Jiao, Dao-Qi Wu, Gao-Fu Zhang, Mo Wang, Hai-Ping Yang, Han Chan, Qiu Li
World J Pediatr. 2022; 18(2): 109–119. Published online 2022 Jan 1. doi: 10.1007/s12519-021-00489-y
PMCID:
PMC8843916
ArticlePubReaderPDF–1.4MCite
8.
A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report
Yoko Shirai, Kenichiro Miura, Naoto Kaneko, Kiyonobu Ishizuka, Amane Endo, Taeko Hashimoto, Shoichiro Kanda, Yutaka Harita, Motoshi Hattori
BMC Nephrol. 2021; 22: 417. Published online 2021 Dec 20. doi: 10.1186/s12882-021-02626-1
PMCID:
PMC8686241
ArticlePubReaderPDF–1.6MCite
9.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, Michelle T. McNulty, Kyuyong Song, China Nagano, Yuki Hitomi, Dongwon Lee, Yoshihiro Aiba, Seik-Soon Khor, Kazuko Ueno, Yosuke Kawai, Masao Nagasaki, Eisei Noiri, Tomoko Horinouchi, Hiroshi Kaito, Riku Hamada, Takayuki Okamoto, Koichi Kamei, Yoshitsugu Kaku, Rika Fujimaru, Ryojiro Tanaka, Yuko Shima, The Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan, Jiwon Baek, Hee Gyung Kang, Il-Soo Ha, Kyoung Hee Han, Eun Mi Yang, Korean Consortium of Hereditary Renal Diseases in Children, Asiri Abeyagunawardena, Brandon Lane, Megan Chryst-Stangl, Christopher Esezobor, Adaobi Solarin, Midwest Pediatric Nephrology Consortium (Genetics of nephrotic syndrome study group), Claire Dossier, Georges Deschénes, NEPHROVIR, Marina Vivarelli, Hanna Debiec, Kenji Ishikura, Masafumi Matsuo, Kandai Nozu, Pierre Ronco, Hae Il Cheong, Matthew G. Sampson, Katsushi Tokunaga, Kazumoto Iijima
Kidney Int. Author manuscript; available in PMC 2021 May 6.
Published in final edited form as: Kidney Int. 2020 Nov; 98(5): 1308–1322. Published online 2020 Jun 14. doi: 10.1016/j.kint.2020.05.029
PMCID:
PMC8101291
ArticlePubReaderPDF–1.2MCite
10.
Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal
Jinwen Xu, Tingting Ge, Hongxia Zhou, Lin Zhang, Liping Zhao
Med Sci Monit. 2020; 26: e922090-1–e922090-7. Prepublished online 2020 Apr 3. Published online 2020 Jun 3. doi: 10.12659/MSM.922090
PMCID:
PMC7294843
ArticlePubReaderPDF–545KCite
11.
Endothelin‐1 rs9296344 associates with the susceptibility of childhood primary nephrotic syndrome
Ruifeng Zhang, Huandan Yang, Bingbing Zhu, Tingting Yuan, Qianqian Peng, Juan Lv, Shan Qiu, Suqin Zhou, Yan Li, Zhaowen Zhong
J Clin Lab Anal. 2020 Apr; 34(4): e23134. Published online 2020 Jan 25. doi: 10.1002/jcla.23134
PMCID:
PMC7171328
ArticlePubReaderPDF–303KCite
12.
Genetic Basis of Health Disparity in Childhood Nephrotic Syndrome
Jennifer D. Varner, Ayo Matory, Rasheed A. Gbadegesin
Am J Kidney Dis. Author manuscript; available in PMC 2020 Mar 17.
Published in final edited form as: Am J Kidney Dis. 2018 Nov; 72(5 Suppl 1): S22–S25. doi: 10.1053/j.ajkd.2018.06.022
PMCID:
PMC7077932
ArticlePubReaderPDF–57KCite
13.
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease
Ken Saida, Koichi Kamei, Naoya Morisada, Masao Ogura, Kentaro Ogata, Kentaro Matsuoka, Kandai Nozu, Kazumoto Iijima, Shuichi Ito
CEN Case Rep. 2020 Feb; 9(1): 19–23. Published online 2019 Sep 19. doi: 10.1007/s13730-019-00419-y
PMCID:
PMC6990249
ArticlePubReaderPDF–1014KCite
14.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
J Clin Invest. 2020 Jan 2; 130(1): e129937. Published online 2019 Dec 3. doi: 10.1172/JCI129937
Correction in:
J Clin Invest. 2022 Jun 1; 132(11): e161852.
PMCID:
PMC6934218
ArticlePubReaderPDF–3.6MCite
15.
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen, Linsheng Zhao
BMC Med Genet. 2019; 20: 165. Published online 2019 Oct 28. doi: 10.1186/s12881-019-0898-4
PMCID:
PMC6816174
ArticlePubReaderPDF–1.9MCite
16.
Relationships between the clinical phenotypes and genetic variants associated with the immunological mechanism in childhood idiopathic nephrotic syndrome: protocol for a prospective observational single-centre cohort study
Han Chan, Hao Lee, Xia Yang, Jingzhi Wang, Xueying Yang, Chun Gan, Han Xiao, Qianqian Li, Jia Jiao, Daoqi Wu, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li
BMJ Open. 2019; 9(8): e028717. Published online 2019 Aug 28. doi: 10.1136/bmjopen-2018-028717
PMCID:
PMC6720149
ArticlePubReaderPDF–390KCite
17.
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
Stephanie Dufek, Chris Cheshire, Adam P. Levine, Richard S. Trompeter, Naomi Issler, Matthew Stubbs, Monika Mozere, Sanjana Gupta, Enriko Klootwijk, Vaksha Patel, Daljit Hothi, Aoife Waters, Hazel Webb, Kjell Tullus, Lucy Jenkins, Lighta Godinho, Elena Levtchenko, Jack Wetzels, Nine Knoers, Nynke Teeninga, Jeroen Nauta, Mohamed Shalaby, Sherif Eldesoky, Jameela A. Kari, Shenal Thalgahagoda, Randula Ranawaka, Asiri Abeyagunawardena, Adebowale Adeyemo, Mark Kristiansen, Rasheed Gbadegesin, Nicholas J. Webb, Daniel P. Gale, Horia C. Stanescu, Robert Kleta, Detlef Bockenhauer
J Am Soc Nephrol. 2019 Aug; 30(8): 1375–1384. Published online 2019 Jul 1. doi: 10.1681/ASN.2018101054
PMCID:
PMC6683715
ArticlePubReaderCite
18.
Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children
Asaf Vivante, Orna Chacham, Shirlee Shril, Ruth Schreiber, Neveen A. Soliman, Irene Koneth, Mario Schiffer, Yair Anikster, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Pediatr Nephrol. 2019 Sep; 34(9): 1607–1613. Published online 2019 Apr 17. doi: 10.1007/s00467-019-04256-0
PMCID:
PMC6660980
ArticlePubReaderPDF–191KCite
19.
A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report
Xi-Juan Liu, Chen Yan, Jing-Yu Jia
Medicine (Baltimore) 2019 Jun; 98(25): e16109. Published online 2019 Jun 21. doi: 10.1097/MD.0000000000016109
PMCID:
PMC6636977
ArticlePubReaderPDF–492KCite
20.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
David Schapiro, Ankana Daga, Jennifer A Lawson, Amar J Majmundar, Svjetlana Lovric, Weizhen Tan, Jillian K Warejko, Inés Fessi, Jia Rao, Merlin Airik, Heon Yung Gee, Ronen Schneider, Eugen Widmeier, Tobias Hermle, Shazia Ashraf, Tilman Jobst-Schwan, Amelie T van der Ven, Makiko Nakayama, Shirlee Shril, Daniela A Braun, Friedhelm Hildebrandt
Nephrol Dial Transplant. 2019 Mar; 34(3): 474–485. Published online 2018 Mar 21. doi: 10.1093/ndt/gfy050
PMCID:
PMC6399484
ArticlePubReaderPDF–289KCite

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