PMC Links for GEO Profiles (Select 79977415) - PMC

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 81012914.

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

Abstract Article PDF–1.2M

Select item 80118905.

Endoplasmic reticulum–associated degradation is required for nephrin maturation and kidney glomerular filtration function

Sei Yoshida, Xiaoqiong Wei, Gensheng Zhang, Christopher L. O’Connor, Mauricio Torres, Zhangsen Zhou, Liangguang Lin, Rajasree Menon, Xiaoxi Xu, Wenyue Zheng, Yi Xiong, Edgar Otto, Chih-Hang Anthony Tang, Rui Hua, Rakesh Verma, Hiroyuki Mori, Yang Zhang, Chih-Chi Andrew Hu, Ming Liu, Puneet Garg, Jeffrey B. Hodgin, Shengyi Sun, Markus Bitzer, Ling Qi

J Clin Invest. 2021 Apr 1; 131(7): e143988. Published online 2021 Apr 1. doi: 10.1172/JCI143988

PMCID:: PMC8011890

Abstract Article PDF–22M

Select item 66354376.

The human nephrin Y¹¹³⁹RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development

Eugenel B. Espiritu, Huajun Jiang, Sophie Moreau-Marquis, Mara Sullivan, Kunimasa Yan, Donna Beer Stolz, Matthew G. Sampson, Neil A. Hukriede, Agnieszka Swiatecka-Urban

J Biol Chem. 2019 Jul 12; 294(28): 10773–10788. Published online 2019 May 31. doi: 10.1074/jbc.RA119.008235

PMCID:: PMC6635437

Abstract Article PDF–7.5M

Select item 65851237.

A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li, Li Wang

BMC Med Genet. 2019; 20: 111. Published online 2019 Jun 19. doi: 10.1186/s12881-019-0845-4

PMCID:: PMC6585123

Abstract Article PDF–759K

Select item 63869598.

Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis

Jenny Frese, Matthias Kettwig, Hildegard Zappel, Johannes Hofer, Hermann-Josef Gröne, Mato Nagel, Gere Sunder-Plassmann, Renate Kain, Jörg Neuweiler, Oliver Gross

Int J Mol Sci. 2019 Feb; 20(3): 519. Published online 2019 Jan 26. doi: 10.3390/ijms20030519

PMCID:: PMC6386959

Abstract Article PDF–1.7M

Select item 63110209.

Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

Guo-min Li, Qi Cao, Qian Shen, Li Sun, Yi-hui Zhai, Hai-mei Liu, Yu An, Hong Xu

BMC Nephrol. 2018; 19: 382. Published online 2018 Dec 29. doi: 10.1186/s12882-018-1184-y

PMCID:: PMC6311020

Abstract Article PDF–909K

Select item 624589710.

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

BMC Med Genet. 2018; 19: 200. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0714-6

PMCID:: PMC6245897

Abstract Article PDF–710K

Select item 621885611.

SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts

Chengguo Wei, Khadija Banu, Felipe Garzon, John M. Basgen, Nimrod Philippe, Zhengzi Yi, Ruijie Liu, Jui Choudhuri, Miguel Fribourg, Tong Liu, Arun Cumpelik, Jenny Wong, Mubeen Khan, Bhaskar Das, Karen Keung, Fadi Salem, Kirk N. Campbell, Lewis Kaufman, Paolo Cravedi, Weijia Zhang, Philip J. O'Connell, John Cijiang He, Barbara Murphy, Madhav C. Menon

J Am Soc Nephrol. 2018 Nov; 29(11): 2641–2657. Published online 2018 Oct 19. doi: 10.1681/ASN.2018060573

PMCID:: PMC6218856

Abstract Article

Select item 613586812.

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes

Shunsuke Tanigawa, Mazharul Islam, Sazia Sharmin, Hidekazu Naganuma, Yasuhiro Yoshimura, Fahim Haque, Takumi Era, Hitoshi Nakazato, Koichi Nakanishi, Tetsushi Sakuma, Takashi Yamamoto, Hidetake Kurihara, Atsuhiro Taguchi, Ryuichi Nishinakamura

Stem Cell Reports. 2018 Sep 11; 11(3): 727–740. Published online 2018 Aug 30. doi: 10.1016/j.stemcr.2018.08.003

PMCID:: PMC6135868

Abstract Article PDF–4.5M

Select item 607490013.

Steroid-resistant nephrotic syndrome: impact of genetic testing

Jameela A. Kari, Sherif M. El-Desoky, Mamdooh Gari, Khalid Malik, Virginia Vega-Warner, Svjetlana Lovric, Detlef Bockenhauer

Ann Saudi Med. 2013 Nov-Dec; 33(6): 533–538. doi: 10.5144/0256-4947.2013.533

PMCID:: PMC6074900

Abstract Article PDF–209K

Select item 561784414.

C1-Ten is a PTPase of nephrin, regulating podocyte hypertrophy through mTORC1 activation

Jiyoun Lee, Ara Koh, Heeyoon Jeong, Eui Kim, Tae-Sun Ha, Moin A. Saleem, Sung Ho Ryu

Sci Rep. 2017; 7: 12346. Published online 2017 Sep 27. doi: 10.1038/s41598-017-12382-8

PMCID:: PMC5617844

Abstract Article PDF–7.4M

Select item 559313515.

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Bugsu Ovunc, Shazia Ashraf, Virginia Vega-Warner, Detlef Bockenhauer, Neveen A Soliman Elshakhs, Mark Joseph, Friedhelm Hildebrandt, Members of the Gesellschaft für Pädiatrische Nephrologie (GPN) Study Group

Nephron Clin Pract. Author manuscript; available in PMC 2017 Sep 11.

Published in final edited form as: Nephron Clin Pract. 2012; 120(3): c139–c146. Published online 2012 May 11. doi: 10.1159/000337379

PMCID:: PMC5593135

Abstract Article PDF–311K

Select item 517789916.

Angiotensin II increases glomerular permeability by β-arrestin mediated nephrin endocytosis

Eva Königshausen, Ulf M. Zierhut, Martin Ruetze, Sebastian A. Potthoff, Johannes Stegbauer, Magdalena Woznowski, Ivo Quack, Lars C. Rump, Lorenz Sellin

Sci Rep. 2016; 6: 39513. Published online 2016 Dec 22. doi: 10.1038/srep39513

PMCID:: PMC5177899

Abstract Article PDF–2.0M

Select item 511869117.

Second-trimester urine nephrin:creatinine ratio versus soluble fms-like tyrosine kinase-1:placental growth factor ratio for prediction of preeclampsia among asymptomatic women

Tianyue Zhai, Itsuko Furuta, Kinuko Nakagawa, Takashi Kojima, Takeshi Umazume, Satoshi Ishikawa, Takahiro Yamada, Mamoru Morikawa, Hisanori Minakami

Sci Rep. 2016; 6: 37442. Published online 2016 Nov 22. doi: 10.1038/srep37442

PMCID:: PMC5118691

Abstract Article PDF–1.3M

Select item 435698818.

IQGAP1 regulates actin cytoskeleton organization in podocytes through interaction with nephrin

Yipeng Liu, Wei Liang, Yingjie Yang, Yangbin Pan, Qian Yang, Xinghua Chen, Pravin C. Singhal, Guohua Ding

Cell Signal. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Cell Signal. 2015 Apr; 27(4): 867–877. Published online 2015 Jan 31. doi: 10.1016/j.cellsig.2015.01.015

PMCID:: PMC4356988

Abstract Article PDF–2.4M

Select item 433395719.

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – a single-centre experience

Agnieszka Bińczak-Kuleta, Jacek Rubik, Mieczysław Litwin, Małgorzata Ryder, Klaudyna Lewandowska, Olga Taryma-Leśniak, Jeremy S. Clark, Ryszard Grenda, Andrzej Ciechanowicz

Bosn J Basic Med Sci. 2014 May; 14(2): 89–93. doi: 10.17305/bjbms.2014.2270

PMCID:: PMC4333957

Abstract Article PDF–82K

Select item 433007620.

Pharmacogenomics of Hypertension: A Genome‐Wide, Placebo‐Controlled Cross‐Over Study, Using Four Classes of Antihypertensive Drugs

Timo P. Hiltunen, Kati M. Donner, Antti‐Pekka Sarin, Janna Saarela, Samuli Ripatti, Arlene B. Chapman, John G. Gums, Yan Gong, Rhonda M. Cooper‐DeHoff, Francesca Frau, Valeria Glorioso, Roberta Zaninello, Erika Salvi, Nicola Glorioso, Eric Boerwinkle, Stephen T. Turner, Julie A. Johnson, Kimmo K. Kontula

J Am Heart Assoc. 2015 Jan; 4(1): e001521. Published online 2015 Jan 9. doi: 10.1161/JAHA.114.001521

PMCID:: PMC4330076

Abstract Article PDF–879K

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