Literature DB >> 23689120

Nephrotic syndrome: Genetic screening in steroid-resistant nephrotic syndrome.

Robert H Mak1, William E Smoyer.   

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Year:  2013        PMID： 23689120     DOI： 10.1038/nrneph.2013.101

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN： 1759-5061            Impact factor:   28.314


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  10 in total

1.  Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Authors:  Giulio Genovese; David J Friedman; Michael D Ross; Laurence Lecordier; Pierrick Uzureau; Barry I Freedman; Donald W Bowden; Carl D Langefeld; Taras K Oleksyk; Andrea L Uscinski Knob; Andrea J Bernhardy; Pamela J Hicks; George W Nelson; Benoit Vanhollebeke; Cheryl A Winkler; Jeffrey B Kopp; Etienne Pays; Martin R Pollak
Journal:  Science       Date:  2010-07-15       Impact factor: 47.728

2.  MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Authors:  Caterina Mele; Paraskevas Iatropoulos; Roberta Donadelli; Andrea Calabria; Ramona Maranta; Paola Cassis; Simona Buelli; Susanna Tomasoni; Rossella Piras; Mira Krendel; Serena Bettoni; Marina Morigi; Massimo Delledonne; Carmine Pecoraro; Isabella Abbate; Maria Rosaria Capobianchi; Friedhelm Hildebrandt; Edgar Otto; Franz Schaefer; Fabio Macciardi; Fatih Ozaltin; Sevinc Emre; Tulin Ibsirlioglu; Ariela Benigni; Giuseppe Remuzzi; Marina Noris
Journal:  N Engl J Med       Date:  2011-07-14       Impact factor: 91.245

3.  Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Authors:  Fatih Ozaltin; Tulin Ibsirlioglu; Ekim Z Taskiran; Dilek Ertoy Baydar; Figen Kaymaz; Mithat Buyukcelik; Beltinge Demircioglu Kilic; Ayse Balat; Paraskevas Iatropoulos; Esin Asan; Nurten A Akarsu; Franz Schaefer; Engin Yilmaz; Ayşin Bakkaloglu
Journal:  Am J Hum Genet       Date:  2011-06-30       Impact factor: 11.025

4.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Authors:  N Boute; O Gribouval; S Roselli; F Benessy; H Lee; A Fuchshuber; K Dahan; M C Gubler; P Niaudet; C Antignac
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

Review 5.  The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.

Authors:  Constantinos J Stefanidis; Uwe Querfeld
Journal:  Eur J Pediatr       Date:  2011-02-08       Impact factor: 3.183

6.  WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Authors:  Filippo Aucella; Luigi Bisceglia; Patrizia De Bonis; Maddalena Gigante; Gianluca Caridi; Giancarlo Barbano; Gerolamo Mattioli; Francesco Perfumo; Loreto Gesualdo; Gian Marco Ghiggeri
Journal:  Pediatr Nephrol       Date:  2006-08-15       Impact factor: 3.714

Review 7.  Genetic testing in nephrotic syndrome--challenges and opportunities.

Authors:  Rasheed A Gbadegesin; Michelle P Winn; William E Smoyer
Journal:  Nat Rev Nephrol       Date:  2013-01-15       Impact factor: 28.314

8.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Authors:  Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

9.  Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Authors:  Beata S Lipska; Paraskevas Iatropoulos; Ramona Maranta; Gianluca Caridi; Fatih Ozaltin; Ali Anarat; Ayse Balat; Jutta Gellermann; Agnes Trautmann; Ozlem Erdogan; Bassam Saeed; Sevinc Emre; Radovan Bogdanovic; Marta Azocar; Irena Balasz-Chmielewska; Elisa Benetti; Salim Caliskan; Sevgi Mir; Anette Melk; Pelin Ertan; Esra Baskin; Helena Jardim; Tinatin Davitaia; Anna Wasilewska; Dorota Drozdz; Maria Szczepanska; Augustina Jankauskiene; Lina Maria Serna Higuita; Gianluigi Ardissino; Ozan Ozkaya; Elzbieta Kuzma-Mroczkowska; Oguz Soylemezoglu; Bruno Ranchin; Anna Medynska; Marcin Tkaczyk; Amira Peco-Antic; Ipek Akil; Tomasz Jarmolinski; Agnieszka Firszt-Adamczyk; Jiri Dusek; Giacomo D Simonetti; Faysal Gok; Alaleh Gheissari; Francesco Emma; Rafael T Krmar; Michel Fischbach; Nikoleta Printza; Eva Simkova; Caterina Mele; Gian Marco Ghiggeri; Franz Schaefer
Journal:  Kidney Int       Date:  2013-03-20       Impact factor: 10.612

10.  Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Authors:  Elizabeth J Brown; Johannes S Schlöndorff; Daniel J Becker; Hiroyasu Tsukaguchi; Stephen J Tonna; Andrea L Uscinski; Henry N Higgs; Joel M Henderson; Martin R Pollak
Journal:  Nat Genet       Date:  2009-12-20       Impact factor: 38.330
  10 in total

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