PMC Articles for MedGen (Select 885505) - PMC

Select item 106736881.

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 94168442.

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 78206253.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

Ronen Schneider, Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun, Steve Seltzsam, Thomas M. Kitzler, Youying Mao, Florian Buerger, Amar J. Majmundar, Ana C. Onuchic-Whitford, Caroline M. Kolvenbach, Luca Schierbaum, Sophia Schneider, Abdul A. Halawi, Makiko Nakayama, Nina Mann, Dervla M. Connaughton, Verena Klämbt, Matias Wagner, Korbinian M. Riedhammer, Lutz Renders, Yoshichika Katsura, Dean Thumkeo, Neveen A. Soliman, Shrikant Mane, Richard P. Lifton, Shirlee Shril, Mustafa K. Khokha, Julia Hoefele, Bruce L. Goode, Friedhelm Hildebrandt

Am J Hum Genet. 2020 Dec 3; 107(6): 1113–1128. Published online 2020 Nov 23. doi: 10.1016/j.ajhg.2020.11.008

PMCID:: PMC7820625

Abstract Article PDF–2.7M

Select item 47703044.

Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2

Ruth Rollason, Matthew Wherlock, Jenny A. Heath, Kate J. Heesom, Moin A. Saleem, Gavin I. Welsh

Biosci Rep. 2016 Feb; 36(1): e00302. Prepublished online 2016 Jan 13. Published online 2016 Feb 29. doi: 10.1042/BSR20150252

PMCID:: PMC4770304

Abstract Article PDF–996K

Select item 36476805.

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

Moumita Barua, Elizabeth J. Brown, Victoria T. Charoonratana, Giulio Genovese, Hua Sun, Martin R. Pollak

Kidney Int. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: Kidney Int. 2013 Feb; 83(2): 316–322. Published online 2012 Sep 26. doi: 10.1038/ki.2012.349

PMCID:: PMC3647680

Abstract Article PDF–940K

Select item 30877816.

Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

Sheila Santín, Gemma Bullich, Bárbara Tazón-Vega, Rafael García-Maset, Isabel Giménez, Irene Silva, Patricia Ruíz, José Ballarín, Roser Torra, Elisabet Ars

Clin J Am Soc Nephrol. 2011 May; 6(5): 1139–1148. doi: 10.2215/CJN.05260610

PMCID:: PMC3087781

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