JCI - Citations to NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

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NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

Hiroyasu Tsukaguchi, … , Raghu Kalluri, Martin R. Pollak

Hiroyasu Tsukaguchi, … , Raghu Kalluri, Martin R. Pollak

Published December 1, 2002
Citation Information: J Clin Invest. 2002;110(11):1659-1666. https://doi.org/10.1172/JCI16242.

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Title and authors	Publication	Year
A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations Bonilla M, Efe O, Selvaskandan H, Lerma EV, Wiegley N		2024
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM	Human Molecular Genetics	2024
In vivo characterization of a podocyte-expressed short podocin isoform Butt L, Unnersjö-Jess D, Reilly D, Hahnfeldt R, Rinschen MM, Bozek K, Schermer B, Benzing T, Höhne M	BMC Nephrology	2023
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr	Frontiers in Medicine	2023
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Thomas MM, Ahmed HM, El-Dessouky SH, Ramadan A, Botrous OE, Abdel-Hamid MS	Molecular genetics and genomics : MGG	2022
Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome. Zhou Q, Weng Q, Zhang X, Liu Y, Tong J, Hao X, Shi H, Shen P, Ren H, Xie J, Chen N	Frontiers in Medicine	2022
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease Sambharia M, Rastogi P, Thomas CP	American journal of medical genetics. Part C, Seminars in medical genetics	2022
Mass Spectrometric Analysis of Urine from COVID-19 Patients for Detection of SARS-CoV-2 Viral Antigen and to Study Host Response S Chavan, KK Mangalaparthi, S Singh, S Renuse, PM Vanderboom, AK Madugundu, R Budhraja, K McAulay, TE Grys, AD Rule, MP Alexander, JC OHoro, AD Badley, A Pandey	Journal of Proteome Research	2021
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome AE Mason, MA Saleem, A Bierzynska	Pediatric Nephrology	2021
Management of Steroid-Resistant Nephrotic Syndrome in Children S Sachdeva, S Khan, C Davalos, C Avanthika, S Jhaveri, A Babu, D Patterson, AJ Yamani	Cureus	2021
Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease L Butt, D Unnersjö-Jess, M Höhne, R Hahnfeldt, D Reilly, M Rinschen, I Plagmann, P Diefenhardt, S Braehler, P Brinkkötter, H Brismar, H Blom, B Schermer, T Benzing	Journal of the American Society of Nephrology : JASN	2021
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome X Jia, T Yamamura, R Gbadegesin, MT McNulty, K Song, C Nagano, Y Hitomi, D Lee, Y Aiba, SS Khor, K Ueno, Y Kawai, M Nagasaki, E Noiri, T Horinouchi, H Kaito, R Hamada, T Okamoto, K Kamei, Y Kaku, R Fujimaru, R Tanaka, Y Shima, J Baek, HG Kang, IS Ha, KH Han, EM Yang, A Abeyagunawardena, B Lane, M Chryst-Stangl, C Esezobor, A Solarin, C Dossier, G Deschênes, M Vivarelli, H Debiec, K Ishikura, M Matsuo, K Nozu, P Ronco, HI Cheong, MG Sampson, K Tokunaga, K Iijima	Kidney International	2020
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis E Park, C Lee, NK Kim, YH Ahn, YS Park, JH Lee, SH Kim, MH Cho, H Cho, KH Yoo, JI Shin, HG Kang, IS Ha, WY Park, HI Cheong	Journal of Clinical Medicine	2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS MC Braunisch, KM Riedhammer, PM Herr, S Draut, R Günthner, M Wagner, M Weidenbusch, A Lungu, B Alhaddad, L Renders, TM Strom, U Heemann, T Meitinger, C Schmaderer, J Hoefele	European Journal of Human Genetics	2020
Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome SS Jyoti, F Islam, II Shrabonee, TN Sultana, NI Chaity, NA Nahid, R Islam, S Islam, MN Apu	Heliyon	2020
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis J Frese, M Kettwig, H Zappel, J Hofer, HJ Gröne, M Nagel, G Sunder-Plassmann, R Kain, J Neuweiler, O Gross	International journal of molecular sciences	2019
Non-collagen genes role in digenic Alport syndrome S Daga, C Fallerini, S Furini, C Pecoraro, F Scolari, F Ariani, M Bruttini, MA Mencarelli, F Mari, A Renieri, AM Pinto	BMC Nephrology	2019
Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome M Zaki, S El-Shaer, S Rady, MA El-Salam, R Abd-El-Salam, IA Alkashlan, M Saber, S Mohamed, M Hassaan, E Rabie, K Amr	Open Access Macedonian Journal of Medical Sciences	2019
Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults N Lepori, L Zand, S Sethi, G Fernandez-Juarez, FC Fervenza	Clinical Kidney Journal	2018
Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach SM Yu, P Nissaisorakarn, I Husain, B Jim	Frontiers in Medicine	2018
Monogenic Causes of Proteinuria in Children O Cil, F Perwad	Frontiers in Medicine	2018
Expert consensus guidelines for the genetic diagnosis of Alport syndrome J Savige, F Ariani, F Mari, M Bruttini, A Renieri, O Gross, C Deltas, F Flinter, J Ding, DP Gale, M Nagel, M Yau, L Shagam, R Torra, E Ars, J Hoefele, G Garosi, H Storey	Pediatric Nephrology	2018
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis Y Harita	Clinical and Experimental Nephrology	2017
R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome SH Ali, RK Mohammed, HA Saheb, BA Abdulmajeed	International Journal of Nephrology	2017
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis J Liu, W Wang	Frontiers of Medicine	2017
Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances A Bierzynska, MA Saleem	Pediatric Nephrology	2017
Hereditary Podocytopathies in Adults: The Next Generation O Boyer, G Dorval, A Servais	Kidney Diseases	2017
Steroid-resistant nephrotic syndrome: past and current perspectives N Nourbakhsh, R Mak		2017
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Human genetics of nephrotic syndrome and the quest for precision medicine: A Greka	Current Opinion in Nephrology and Hypertension	2016
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern M Suvanto, J Patrakka, T Jahnukainen, PM Sjöström, M Nuutinen, P Arikoski, J Kataja, M Kestilä, H Jalanko	Clinical and Experimental Nephrology	2016
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children MC Dhandapani, V Venkatesan, NB Rengaswamy, K Gowrishankar, S Ekambaram, P Sengutavan, V Perumal	Clinical and Experimental Nephrology	2016
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome AS Ramanathan, M Vijayan, S Rajagopal, P Rajendiran, P Senguttuvan	Molecular and Cellular Biochemistry	2016
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing S Weber, AK Büscher, H Hagmann, MC Liebau, C Heberle, M Ludwig, S Rath, M Alberer, A Beissert, M Zenker, PF Hoyer, M Konrad, HG Klein, J Hoefele	Pediatric Nephrology	2015
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects MG Sampson, CC Robertson, S Martini, LH Mariani, KV Lemley, CE Gillies, EA Otto, JB Kopp, A Randolph, V Vega-Warner, F Eichinger, V Nair, DS Gipson, DC Cattran, DB Johnstone, JF O'Toole, SM Bagnasco, PX Song, L Barisoni, JP Troost, M Kretzler, JR Sedor	Journal of the American Society of Nephrology : JASN	2015
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation PJ Phelan, G Hall, D Wigfall, J Foreman, S Nagaraj, AF Malone, MP Winn, DN Howell, R Gbadegesin	Clinical Kidney Journal	2015
NPHS2 mutations account for only 15 % of nephrotic syndrome cases MS Guaragna, AC Lutaif, CS Piveta, ML Souza, SR de Souza, TB Henriques, AT Maciel-Guerra, VM Belangero, G Guerra-Junior, MP de Mello	BMC Medical Genetics	2015
The Genetics of Nephrotic Syndrome M Rheault, R Gbadegesin	Journal of pediatric genetics	2015
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family V Jain, J Feehally, G Jones, L Robertson, D Nair, P Vasudevan	Clinical Kidney Journal	2014
Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing EJ Brown, MR Pollak, M Barua	Kidney International	2014
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome K Tory, DK Menyhárd, S Woerner, F Nevo, O Gribouval, A Kerti, P Stráner, C Arrondel, EH Cong, T Tulassay, G Mollet, A Perczel, C Antignac	Nature Genetics	2014
Familial FSGS MR Pollak	Advances in Chronic Kidney Disease	2014
Podocin and beta dystroglycan expression to study podocyte-podocyte and basement membrane matrix connections in adult protienuric states PB Shankar, R Nada, K Joshi, A Kumar, CS Rayat, V Sakhuja	Diagnostic Pathology	2014
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis L Lu, H Wan, Y Yin, WJ Feng, M Wang, YC Zou, B Huang, DT Wang, Y Shi, Y Zhao, LB Wei	International Urology and Nephrology	2014
Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression S Giglio, A Provenzano, B Mazzinghi, F Becherucci, L Giunti, G Sansavini, F Ravaglia, RM Roperto, S Farsetti, E Benetti, M Rotondi, L Murer, E Lazzeri, L Lasagni, M Materassi, P Romagnani	Journal of the American Society of Nephrology : JASN	2014
Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome S Lovric, H Fang, V Vega-Warner, CE Sadowski, HY Gee, J Halbritter, S Ashraf, P Saisawat, NA Soliman, JA Kari, EA Otto, F Hildebrandt	Clinical journal of the American Society of Nephrology : CJASN	2014
A Novel Missense Mutation of Wilms' Tumor 1 Causes Autosomal Dominant FSGS G Hall, RA Gbadegesin, P Lavin, G Wu, Y Liu, EC Oh, L Wang, RF Spurney, J Eckel, T Lindsey, A Homstad, AF Malone, PJ Phelan, A Shaw, DN Howell, PJ Conlon, N Katsanis, MP Winn	Journal of the American Society of Nephrology : JASN	2014
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population BS Lipska, I Balasz-Chmielewska, L Morzuch, K Wasielewski, D Vetter, H Borzecka, D Drozdz, A Firszt-Adamczyk, E Gacka, T Jarmolinski, J Ksiazek, E Kuzma-Mroczkowska, M Litwin, A Medynska, M Silska, M Szczepanska, M Tkaczyk, A Wasilewska, F Schaefer, A Zurowska, J Limon	Journal of Applied Genetics	2013
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis A Kerti, R Csohány, L Wagner, E Jávorszky, E Maka, K Tory	Pediatric Nephrology	2013
An Overview of Molecular Mechanism of Nephrotic Syndrome JR Machado, LP Rocha, PD de Neves, EC Cobô, MV Silva, LR Castellano, RR Corrêa, MA Reis	International Journal of Nephrology	2012
Educational paper: The podocytopathies AK Büscher, S Weber	European Journal of Pediatrics	2012
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria K Voskarides, M Arsali, Y Athanasiou, A Elia, A Pierides, C Deltas	Pediatric Nephrology	2012
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome A Kerti, R Csohány, A Szabó, O Árkossy, P Sallay, V Moriniére, V Vega-Warner, G Nyírő, O Lakatos, T Szabó, BS Lipska, F Schaefer, C Antignac, G Reusz, T Tulassay, K Tory	Pediatric Nephrology	2012
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Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation TC Jungraithmayr, K Hofer, P Cochat, G Chernin, G Cortina, S Fargue, P Grimm, T Knueppel, A Kowarsch, T Neuhaus, P Pagel, KP Pfeiffer, F Schäfer, U Schönermarck, T Seeman, B Toenshoff, S Weber, MP Winn, J Zschocke, LB Zimmerhackl	Journal of the American Society of Nephrology : JASN	2011
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Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome S Santín, B Tazón-Vega, I Silva, MÁ Cobo, I Giménez, P Ruíz, R García-Maset, J Ballarín, R Torra, E Ars	Clinical journal of the American Society of Nephrology : CJASN	2010
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Clinical Features and Long-Term Outcome of Nephrotic Syndrome Associated with Heterozygous NPHS1 and NPHS2 Mutations G Caridi, M Gigante, P Ravani, A Trivelli, G Barbano, F Scolari, M Dagnino, L Murer, C Murtas, A Edefonti, L Allegri, A Amore, R Coppo, F Emma, TD Palo, R Penza, L Gesualdo, GM Ghiggeri	Clinical journal of the American Society of Nephrology : CJASN	2009
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NPHS2variation in focal and segmental glomerulosclerosis SJ Tonna, A Needham, K Polu, A Uscinski, GB Appel, RJ Falk, A Katz, S Al-Waheeb, BS Kaplan, G Jerums, J Savige, J Harmon, K Zhang, GC Curhan, MR Pollak	BMC Nephrology	2008
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The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy S Tonna, YY Wang, D Wilson, L Rigby, T Tabone, R Cotton, J Savige	Pediatric Nephrology	2008
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome HY Cho, JH Lee, HJ Choi, BH Lee, IS Ha, Y Choi, HI Cheong	Pediatric Nephrology	2008
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NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome A Berdeli, S Mir, O Yavascan, E Serdaroglu, M Bak, N Aksu, A Oner, A Anarat, O Donmez, N Yildiz, L Sever, Y Tabel, R Dusunsel, F Sonmez, N Cakar	Pediatric Nephrology	2007
NPHS2 Variation in Sporadic Focal Segmental Glomerulosclerosis LM McKenzie, SL Hendrickson, WA Briggs, RA Dart, SM Korbet, MH Mokrzycki, PL Kimmel, TS Ahuja, JS Berns, EE Simon, MC Smith, H Trachtman, DM Michel, JR Schelling, M Cho, YC Zhou, E Binns-Roemer, GD Kirk, JB Kopp, CA Winkler	Journal of the American Society of Nephrology : JASN	2007
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Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome P Schwaderer, T Knüppel, M Konrad, O Mehls, K Schärer, F Schaefer, S Weber	Pediatric Nephrology	2007
Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS L Copelovitch, M Guttenberg, MR Pollak, BS Kaplan	Pediatric Nephrology	2007
Large-scale identification of genes implicated in kidney glomerulus development and function M Takemoto, L He, J Norlin, J Patrakka, Z Xiao, T Petrova, C Bondjers, J Asp, E Wallgard, Y Sun, T Samuelsson, P Mostad, S Lundin, N Miura, Y Sado, K Alitalo, SE Quaggin, K Tryggvason, C Betsholtz	The EMBO Journal	2006
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No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations M Schultheiss, RG Ruf, BE Mucha, R Wiggins, A Fuchshuber, A Lichtenberger, F Hildebrandt	Pediatric Nephrology	2004
Genetic forms of nephrotic syndrome P Niaudet	Pediatric Nephrology	2004
NPHS2 mutation associated with recurrence of proteinuria after transplantation H Billing, D Mller, R Ruf, A Lichtenberger, F Hildebrandt, C August, U Querfeld, D Haffner	Pediatric Nephrology	2004
A novel mutation of NPHS2 identified in a Chinese family Z Yu, J Ding, N Guan, Y Shi, J Zhang, J Huang, Y Yao, J Yang	Pediatric Nephrology	2004
The pediatric nephrotic syndrome spectrum: Clinical homogeneity and molecular heterogeneity AD Schachter	Pediatric Transplantation	2004
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