Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
PEDIATRIC NEPHROLOGY (2010)
期刊
PEDIATRIC NEPHROLOGY
卷 25, 期 9, 页码 1621-1632出版社
SPRINGER
关键词
作者
我是这篇论文的作者
推荐
Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome
Qiongxiu Zhou, Qinjie Weng, Xiaoyan Zhang, Yunzi Liu, Jun Tong, Xu Hao, Hao Shi, Pingyan Shen, Hong Ren, Jingyuan Xie, Nan Chen
FRONTIERS IN MEDICINE (2022)
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study
Liping Rong, Lizhi Chen, Jia Rao, Qian Shen, Guomin Li, Jialu Liu, Jianhua Mao, Chunyue Feng, Xiaowen Wang, Si Wang, Xinyu Kuang, Wenyan Huang, Qingshan Ma, Xiaorong Liu, Chen Ling, Rong Fu, Xiaojie Gao, Guixia Ding, Huandan Yang, Mei Han, Zhimin Huang, Qian Li, Qiuye Zhang, Yi Lin, Xiaoyun Jiang, Hong Xu
FRONTIERS IN MEDICINE (2021)
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome
Tomoko Horinouchi, Kandai Nozu, Kazumoto Iijima
PEDIATRIC NEPHROLOGY (2022)
Age and memory B cells at baseline are associated with risk of relapse and memory B-cell reappearance following anti-CD20 treatment in pediatric frequently-relapsing/steroid-dependent nephrotic syndrome
Manuela Colucci, Andrea Angeletti, Federica Zotta, Rita Carsetti, Francesca Lugani, Lucilla Rava, Pietro Ravani, Francesco Emma, Gian Marco Ghiggeri, Marina Vivarelli
KIDNEY INTERNATIONAL (2023)
A zebrafish model of congenital nephrotic syndrome of the Finnish type
Mi-Sun Lee, Sulochana Devi, John Cijiang He, Weibin Zhou
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)
Prediction of steroid resistance and steroid dependence in nephrotic syndrome children
Katarzyna Zaorska, Piotr Zawierucha, Monika Swierczewska, Danuta Ostalska-Nowicka, Jacek Zachwieja, Michal Nowicki
JOURNAL OF TRANSLATIONAL MEDICINE (2021)
Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family
Ling Bai, Jing Zhuang, Changrong Zhang, Chen Lu, Xuefei Tian, Hong Jiang
FRONTIERS IN PEDIATRICS (2021)
A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin
Na Wu, Yingchuan Zhu, Wenhao Jiang, Yue Song, Lan Yin, Yilu Lu, Dachang Tao, Yunqiang Liu, Yongxin Ma
GENES & GENOMICS (2022)
Machine learning models for predicting steroid-resistant of nephrotic syndrome
Qing Ye, Yuzhou Li, Huihui Liu, Jianhua Mao, Hangjin Jiang
FRONTIERS IN IMMUNOLOGY (2023)
Immunophenotypic Alterations in Adult Patients with Steroid-Dependent and Frequently Relapsing Nephrotic Syndrome
Federica Casiraghi, Marta Todeschini, Manuel Alfredo Podesta, Marilena Mister, Barbara Ruggiero, Matias Trillini, Camillo Carrara, Olimpia Diadei, Alessandro Villa, Ariela Benigni, Giuseppe Remuzzi
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)
The role of ABCB1 gene polymorphisms in steroid-resistant nephrotic syndrome: Evidence from a meta-analysis of steroid-receiving patients
Md. Abdul Aziz, Mohammad Safiqul Islam
JOURNAL OF GENE MEDICINE (2022)
Obinutuzumab in Frequently Relapsing and Steroid-Dependent Nephrotic Syndrome in Children
Claire Dossier, Stephanie Bonneric, Veronique Baudouin, Theresa Kwon, Benjamin Prim, Alexandra Cambier, Anne Couderc, Christelle Moreau, Georges Deschenes, Julien Hogan
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2023)
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
Dan Xie, Jiangfen Wu, Wenyi Zhang, Tingting Jin, Peng Wu, Banquan An, Shengwen Huang
MEDICINE (2023)
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome
Elena Sanchez-Rodriguez, Christopher T. Southard, Krzysztof Kiryluk
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)
Pathological and Evolutive Correlations in Steroid Resistant Nephrotic Syndrome in Children
Iuliana Magdalena Starcea, Roxana Alexandra Bogos, Georgiana Scurtu, Mihaela Munteanu, Radu Russu, Vasile Valeriu Lupu, Ancuta Lupu, Laura Trandafir, Ingrith Crenguta Miron, Maria Adriana Mocanu
INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2022)
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease
Marc Fila, Vincent Moriniere, Philippe Eckart, Joelle Terzic, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet
PEDIATRIC NEPHROLOGY (2020)
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Eszter Balogh, Jennifer C. Chandler, Mate Varga, Mona Tahoun, Dora K. Menyhard, Gusztav Schay, Tomas Goncalves, Renata Hamar, Regina Legradi, Akos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szocs, Kristof Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felipe D'Arco, Mario Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Javorszky, Gabor Rudas, Marwa H. Saied, Salah Marzouk, Kata Kelen, Judit Gotze, George Reusz, Tivadar Tulassay, Francois Dragon, Geraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nurnberg, Andras Perczel, Attila J. Szabo, David A. Long, Kazunori Tomita, Corinne Antignac, Aoife M. Waters, Kalman Tory
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene
Giulia Menara, Nathalie Lefort, Corinne Antignac, Geraldine Mollet
STEM CELL RESEARCH (2020)
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
Penelope Jordan, Christelle Arrondel, Bettina Bessieres, Aude Tessier, Tania Attie-Bitach, Sarah Guterman, Vincent Moriniere, Corinne Antignac, Sophie Saunier, Marie-Claire Gubler, Laurence Heidet
KIDNEY INTERNATIONAL (2021)
Non-invasive intradermal imaging of cystine crystals in cystinosis
Marya Bengali, Spencer Goodman, Xiaoying Sun, Magdalene A. Dohil, Ranjan Dohil, Robert Newbury, Tatiana Lobry, Laura Hernandez, Corinne Antignac, Sonia Jain, Stephanie Cherqui
PLOS ONE (2021)
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations
F. C. Tilley, C. Arrondel, C. Chhuon, M. Boisson, N. Cagnard, M. Parisot, G. Menara, N. Lefort, I. C. Guerrera, C. Bole-Feysot, A. Benmerah, C. Antignac, G. Mollet
SCIENTIFIC REPORTS (2021)
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
Francesco Emma, William van't Hoff, Katharina Hohenfellner, Rezan Topaloglu, Marcella Greco, Gema Ariceta, Chiara Bettini, Detlef Bockenhauer, Koenraad Veys, Lars Pape, Sally Hulton, Suzanne Collin, Fatih Ozaltin, Aude Servais, Georges Deschenes, Robert Novo, Aurelia Bertholet-Thomas, Jun Oh, Elisabeth Cornelissen, Mirian Janssen, Dieter Haffner, Lucilla Rava, Corinne Antignac, Olivier Devuyst, Patrick Niaudet, Elena Levtchenko
KIDNEY INTERNATIONAL (2021)
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Nine Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S. Lipska-Zietkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas-Poussou, Franz Schaefer
NEPHROLOGY DIALYSIS TRANSPLANTATION (2022)
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Anna Koettgen, Emilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew J. Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Bockenhauer, Olivier Devuyst, Jose C. Florez, Kevin J. Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed A. Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Gross, Lisa M. Guay-Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V. A. M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska-Zietkiewicz, Kathleen Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna-Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Susztak, Bamidele O. Tayo, Roser Torra, Albertien M. van Eerde, Andre Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer M. King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer, Ali G. Gharavi
KIDNEY INTERNATIONAL (2022)
Atypical severe early-onset nephrotic syndrome: Answers
Romain Berthaud, Laurence Heidet, Mehdi Oualha, Roselyne Brat, Deborah Talmud, Florentine Garaix, Marion Rabant, Veronique Fremeaux-Bacchi, Corinne Antignac, Olivia Boyer, Guillaume Dorval
PEDIATRIC NEPHROLOGY (2022)
Atypical severe early-onset nephrotic syndrome: Questions
Romain Berthaud, Laurence Heidet, Mehdi Oualha, Roselyne Brat, Deborah Talmud, Florentine Garaix, Marion Rabant, Veronique Fremeaux-Bacchi, Corinne Antignac, Olivia Boyer, Guillaume Dorval
PEDIATRIC NEPHROLOGY (2022)
A slit-diaphragm-associated protein network for dynamic control of renal filtration
Maciej K. Kocylowski, Hande Aypek, Wolfgang Bildl, Martin Helmstaedter, Philipp Trachte, Bernhard Dumoulin, Sina Wittoesch, Lukas Kuhne, Ute Aukschun, Carolin Teetzen, Oliver Kretz, Botond Gaal, Akos Kulik, Corinne Antignac, Geraldine Mollet, Anna Koettgen, Burulca Goecmen, Jochen Schwenk, Uwe Schulte, Tobias B. Huber, Bernd Fakler, Florian Grahammer
NATURE COMMUNICATIONS (2022)
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
CLINICAL GENETICS (2023)
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function (vol 130, pg 335, 2020)
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaude, Marie-Josephe Tete, 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 Schafer, Lars Pape, Markus Godel, Tobias B. Huber, Marcus Benz, Gunter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Moriniere, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschke, Tarunveer S. Ahluwalia, Anna Kottgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
JOURNAL OF CLINICAL INVESTIGATION (2022)
Loss-of-function mutations of TMEM260 cause autosomal recessive polycystic kidney, cerebral atrophy and cardiac malformation
T. M. Keszthelyi, M. Varga, D. Czimer, D. Ralbovszki, L. Ablonczy, C. Bole, C. Antignac, K. Tory
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)