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Literature DB >> 29644498

The status quo and challenges of genetic diagnosis in children with steroid-resistant nephrotic syndrome.

Yan-Yan Jin¹, Bing-Yu Feng^1,2, Jian-Hua Mao³.

Abstract

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 2018 PMID： 29644498 DOI： 10.1007/s12519-018-0156-4

Source DB: PubMed Journal: World J Pediatr Impact factor: 2.764

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39 in total

Review 1. Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.

Authors: S Joshi; R Andersen; B Jespersen; S Rittig
Journal: Acta Paediatr Date: 2013-07-10 Impact factor: 2.299

2. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Authors: Agnes Trautmann; Monica Bodria; Fatih Ozaltin; Alaleh Gheisari; Anette Melk; Marta Azocar; Ali Anarat; Salim Caliskan; Francesco Emma; Jutta Gellermann; Jun Oh; Esra Baskin; Joanna Ksiazek; Giuseppe Remuzzi; Ozlem Erdogan; Sema Akman; Jiri Dusek; Tinatin Davitaia; Ozan Özkaya; Fotios Papachristou; Agnieszka Firszt-Adamczyk; Tomasz Urasinski; Sara Testa; Rafael T Krmar; Lidia Hyla-Klekot; Andrea Pasini; Z Birsin Özcakar; Peter Sallay; Nilgun Cakar; Monica Galanti; Joelle Terzic; Bilal Aoun; Alberto Caldas Afonso; Hanna Szymanik-Grzelak; Beata S Lipska; Sven Schnaidt; Franz Schaefer
Journal: Clin J Am Soc Nephrol Date: 2015-01-29 Impact factor: 8.237

3. 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 4. 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

5. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Authors: Noriko Miyake; Hiroyasu Tsukaguchi; Eriko Koshimizu; Akemi Shono; Satoko Matsunaga; Masaaki Shiina; Yasuhiro Mimura; Shintaro Imamura; Tomonori Hirose; Koji Okudela; Kandai Nozu; Yuko Akioka; Motoshi Hattori; Norishige Yoshikawa; Akiko Kitamura; Hae Il Cheong; Shoji Kagami; Michiaki Yamashita; Atsushi Fujita; Satoko Miyatake; Yoshinori Tsurusaki; Mitsuko Nakashima; Hirotomo Saitsu; Kenichi Ohashi; Naoko Imamoto; Akihide Ryo; Kazuhiro Ogata; Kazumoto Iijima; Naomichi Matsumoto
Journal: Am J Hum Genet Date: 2015-09-24 Impact factor: 11.025

Review 6. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era.

Authors: Matthew G Sampson; Martin R Pollak
Journal: Semin Nephrol Date: 2015-05 Impact factor: 5.299

7. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

Authors: Anja K Büscher; Bodo B Beck; Anette Melk; Julia Hoefele; Birgitta Kranz; Daniel Bamborschke; Sabrina Baig; Bärbel Lange-Sperandio; Theresa Jungraithmayr; Lutz T Weber; Markus J Kemper; Burkhard Tönshoff; Peter F Hoyer; Martin Konrad; Stefanie Weber
Journal: Clin J Am Soc Nephrol Date: 2015-12-14 Impact factor: 8.237

The status quo and challenges of genetic diagnosis in children with steroid-resistant nephrotic syndrome.

Review 1. Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.

2. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

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

Review 4. Genetic testing in nephrotic syndrome--challenges and opportunities.

5. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Review 6. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era.

7. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

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

Review 9. Modeling Kidney Disease with iPS Cells.

Review 10. Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.

1. Moderate Nucleoporin 133 deficiency leads to glomerular damage in zebrafish.