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Select item 110504351.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska

Int J Mol Sci. 2024 Apr; 25(8): 4486. Published online 2024 Apr 19. doi: 10.3390/ijms25084486

PMCID:: PMC11050435

Abstract Article PDF–1.2M

Select item 110367852.

Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children

Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang, Jianhua Zhou

Ital J Pediatr. 2024; 50: 81. Published online 2024 Apr 22. doi: 10.1186/s13052-024-01656-3

PMCID:: PMC11036785

Abstract Article PDF–1.4M

Select item 109794583.

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Dalia Pantel, Nils D. Mertens, Ronen Schneider, Selina Hölzel, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Tze Y. Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2024 Mar 29.

Published in final edited form as: Pediatr Nephrol. 2024 Feb; 39(2): 455–461. Published online 2023 Sep 5. doi: 10.1007/s00467-023-06134-2

PMCID:: PMC10979458

Abstract Article PDF–827K

Select item 109510694.

Causal relationship between PCSK9 inhibitor and primary glomerular disease: a drug target Mendelian randomization study

Hangyu Duan, Yue Shi, Qi Zhang, Xiujie Shi, Yifan Zhang, Jing Liu, Yu Zhang

Front Endocrinol (Lausanne) 2024; 15: 1335489. Published online 2024 Mar 6. doi: 10.3389/fendo.2024.1335489

PMCID:: PMC10951069

Abstract Article PDF–1.0M

Select item 108787235.

“Idiopathic” minimal change nephrotic syndrome: a podocyte mystery nears the end

Sumant S. Chugh, Lionel C. Clement

Am J Physiol Renal Physiol. 2023 Dec 1; 325(6): F685–F694. Published online 2023 Oct 5. doi: 10.1152/ajprenal.00219.2023

PMCID:: PMC10878723

Abstract Article

Select item 108582516.

Mechanistic characterization of a Drosophila model of paraneoplastic nephrotic syndrome

Jun Xu, Ying Liu, Fangying Yang, Yurou Cao, Weihang Chen, Joshua Shing Shun Li, Shuai Zhang, Aram Comjean, Yanhui Hu, Norbert Perrimon

Nat Commun. 2024; 15: 1241. Published online 2024 Feb 9. doi: 10.1038/s41467-024-45493-8

PMCID:: PMC10858251

Abstract Article PDF–3.8M

Select item 108559297.

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Adele Mitrotti, Ighli Di Bari, Marica Giliberti, Rossana Franzin, Francesca Conserva, Anna Chiusolo, Maddalena Gigante, Matteo Accetturo, Cesira Cafiero, Luisa Ricciato, Emma Diletta Stea, Cinzia Forleo, Anna Gallone, Michele Rossini, Marco Fiorentino, Giuseppe Castellano, Paola Pontrelli, Loreto Gesualdo

Int J Mol Sci. 2024 Feb; 25(3): 1436. Published online 2024 Jan 24. doi: 10.3390/ijms25031436

PMCID:: PMC10855929

Abstract Article PDF–948K

Select item 106736888.

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa

Louansha Nandlal, Cheryl A. Winkler, Rajendra Bhimma, Sungkweon Cho, George W. Nelson, Sudesh Haripershad, Thajasvarie Naicker

Eur J Pediatr. Author manuscript; available in PMC 2023 Nov 24.

Published in final edited form as: Eur J Pediatr. 2022 Oct; 181(10): 3595–3606. Published online 2022 Aug 3. doi: 10.1007/s00431-022-04581-x

PMCID:: PMC10673688

Abstract Article PDF–667K

Select item 104960549.

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome

Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer

Mol Genet Genomic Med. 2023 Sep; 11(9): e2201. Published online 2023 May 19. doi: 10.1002/mgg3.2201

PMCID:: PMC10496054

Abstract Article PDF–2.2M

Select item 941684410.

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis

China Nagano, Shigeo Hara, Norishige Yoshikawa, Asami Takeda, Yoshimitsu Gotoh, Riku Hamada, Kentaro Matsuoka, Masaki Yamamoto, Shuichiro Fujinaga, Koji Sakuraya, Koichi Kamei, Yuko Hamasaki, Hideyo Oguchi, Yoshinori Araki, Yayoi Ogawa, Takayuki Okamoto, Shuichi Ito, Seiji Tanaka, Hiroshi Kaito, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Hiroaki Nagase, Kazumoto Iijima, Kandai Nozu

Kidney360. 2022 Aug 25; 3(8): 1384–1393. Published online 2022 May 24. doi: 10.34067/KID.0000812022

PMCID:: PMC9416844

Abstract Article PDF–1.3M

Select item 930753511.

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

Abstract Article PDF–655K

Select item 920604212.

A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis

Michelle T. McNulty, Damian Fermin, Felix Eichinger, Dongkeun Jang, Matthias Kretzler, Noel Burtt, Martin R. Pollak, Jason Flannick, Astrid Weins, David J. Friedman, Nephrotic Syndrome Study Network (NEPTUNE), Matthew G. Sampson

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

Published in final edited form as: Kidney Int. 2022 Jul; 102(1): 136–148. Published online 2021 Dec 18. doi: 10.1016/j.kint.2021.10.041

PMCID:: PMC9206042

Abstract Article PDF–1.7M

Select item 896761113.

Excretion Patterns of Urinary Sediment and Supernatant Podocyte Biomarkers in Patients with CKD

Akihiro Fukuda, Akihiro Minakawa, Yuji Sato, Hirotaka Shibata, Masanori Hara, Shouichi Fujimoto

Kidney360. 2022 Jan 27; 3(1): 63–73. Published online 2021 Nov 5. doi: 10.34067/KID.0004772021

PMCID:: PMC8967611

Abstract Article PDF–876K

Select item 884391614.

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

Abstract Article PDF–1.4M

Select item 884169515.

Urinary Sediment mRNA Level of CREBBP and CYBA in Children With Steroid-Resistant Nephrotic Syndrome

Wei Li, Xinyi Shou, Wenqing Xiang, Lin He, Lin Li, Haidong Fu, Jianhua Mao

Front Immunol. 2021; 12: 801313. Published online 2022 Jan 31. doi: 10.3389/fimmu.2021.801313

PMCID:: PMC8841695

Abstract Article PDF–8.6M

Select item 867638516.

Transforming Growth Factor Beta Receptor 3 (TGFBR3)–Associated Membranous Nephropathy

Tiffany N. Caza, Samar I. Hassen, Daniel J. Kenan, Aaron Storey, John M. Arthur, Christian Herzog, Rick D. Edmondson, T. David Bourne, Laurence H. Beck, Jr., Christopher P. Larsen

Kidney360. 2021 Aug 26; 2(8): 1275–1286. Published online 2021 Jun 11. doi: 10.34067/KID.0001492021

PMCID:: PMC8676385

Abstract Article PDF–2.4M

Select item 861392217.

Urinary peptidomics reveals proteases involved in idiopathic membranous nephropathy

Baoxu Lin, Jianhua Liu, Yue Zhang, Yabin Wu, Shixiao Chen, Yibo Bai, Qiuying Liu, Xiaosong Qin

BMC Genomics. 2021; 22: 852. Published online 2021 Nov 24. doi: 10.1186/s12864-021-08155-3

PMCID:: PMC8613922

Abstract Article PDF–2.8M

Select item 855748518.

Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

Aniruddha Bhattacharyya, Yuting Huang, Sarah Hussain Khan, Cinthia Beskow Drachenberg, Laura C. Malone

BMC Nephrol. 2021; 22: 358. Published online 2021 Oct 30. doi: 10.1186/s12882-021-02567-9

PMCID:: PMC8557485

Abstract Article PDF–1.4M

Select item 838805519.

Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin

Carla Bizzarri, Germana Antonella Giannone, Jacopo Gervasoni, Sabina Benedetti, Federica Albanese, Luca Dello Strologo, Isabella Guzzo, Mafalda Mucciolo, Francesca Diomedi Camassei, Francesco Emma, Marco Cappa, Ottavia Porzio

J Clin Res Pediatr Endocrinol. 2021 Sep; 13(3): 347–352. Published online 2021 Aug 23. doi: 10.4274/jcrpe.galenos.2020.2020.0064

PMCID:: PMC8388055

Abstract Article PDF–811K

Select item 837207520.

LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay

Xiaoyuan Wang, Huijie Xiao, Baige Su, Yali Ren, Jie Ding, Fang Wang

Mol Genet Genomic Med. 2021 Jul; 9(7): e1704. Published online 2021 May 13. doi: 10.1002/mgg3.1704

PMCID:: PMC8372075

Abstract Article PDF–1.0M

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