Literature DB >> 31846934

"It's In Your Genes": Exome Sequencing Enables Precision Diagnostics in Proteinuric Kidney Diseases.

Franz Schaefer1.   

Abstract

Entities:  

Keywords:  B-lymphocytes; calcineurin inhibitors; child; exome; high-throughput nucleotide signaling; humans; immunologic deficiency syndromes; immunosuppression; kidney diseases; nephrotic syndrome; phenotype; podocytes

Mesh：

Year:  2019        PMID： 31846934      PMCID： PMC6946064          DOI： 10.2215/CJN.14241119

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  10 in total

1.  Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

Authors:  Stefanie Weber; Vincent Moriniere; Tanja Knüppel; Marina Charbit; Jirí Dusek; Gian Marco Ghiggeri; Augustina Jankauskiené; Sevgi Mir; Giovanni Montini; Amira Peco-Antic; Elke Wühl; Aleksandra M Zurowska; Otto Mehls; Corinne Antignac; Franz Schaefer; Remi Salomon
Journal:  J Am Soc Nephrol       Date:  2006-09-13       Impact factor: 10.121

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.  Mutations in PAX2 associate with adult-onset FSGS.

Authors:  Moumita Barua; Emilia Stellacci; Lorenzo Stella; Astrid Weins; Giulio Genovese; Valentina Muto; Viviana Caputo; Hakan R Toka; Victoria T Charoonratana; Marco Tartaglia; Martin R Pollak
Journal:  J Am Soc Nephrol       Date:  2014-03-27       Impact factor: 10.121

4.  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Authors:  Jillian K Warejko; Weizhen Tan; Ankana Daga; David Schapiro; Jennifer A Lawson; Shirlee Shril; Svjetlana Lovric; Shazia Ashraf; Jia Rao; Tobias Hermle; Tilman Jobst-Schwan; Eugen Widmeier; Amar J Majmundar; Ronen Schneider; Heon Yung Gee; J Magdalena Schmidt; Asaf Vivante; Amelie T van der Ven; Hadas Ityel; Jing Chen; Carolin E Sadowski; Stefan Kohl; Werner L Pabst; Makiko Nakayama; Michael J G Somers; Nancy M Rodig; Ghaleb Daouk; Michelle Baum; Deborah R Stein; Michael A Ferguson; Avram Z Traum; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan Fathy; Martin Zenker; Sevcan A Bakkaloglu; Dominik Müller; Aytul Noyan; Fatih Ozaltin; Melissa A Cadnapaphornchai; Seema Hashmi; Jeffrey Hopcian; Jeffrey B Kopp; Nadine Benador; Detlef Bockenhauer; Radovan Bogdanovic; Nataša Stajić; Gil Chernin; Robert Ettenger; Henry Fehrenbach; Markus Kemper; Reyner Loza Munarriz; Ludmila Podracka; Rainer Büscher; Erkin Serdaroglu; Velibor Tasic; Shrikant Mane; Richard P Lifton; Daniela A Braun; Friedhelm Hildebrandt
Journal:  Clin J Am Soc Nephrol       Date:  2017-11-10       Impact factor: 8.237

5.  Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.

Authors:  Mustafa Atmaca; Bora Gulhan; Emine Korkmaz; Mihriban Inozu; Oguz Soylemezoglu; Cengiz Candan; Aysun Karabay Bayazıt; Ahmet Midhat Elmacı; Gonul Parmaksiz; Ali Duzova; Nesrin Besbas; Rezan Topaloglu; Fatih Ozaltin
Journal:  Pediatr Nephrol       Date:  2017-03-24       Impact factor: 3.714

6.  Expanding the phenotype of proteinuria in Dent disease. A case series.

Authors:  Monica T Cramer; Jennifer R Charlton; Agnes B Fogo; Sahar A Fathallah-Shaykh; David J Askenazi; Lisa M Guay-Woodford
Journal:  Pediatr Nephrol       Date:  2014-05-09       Impact factor: 3.714

7.  Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome.

Authors:  Samuela Landini; Benedetta Mazzinghi; Francesca Becherucci; Marco Allinovi; Aldesia Provenzano; Viviana Palazzo; Fiammetta Ravaglia; Rosangela Artuso; Emanuele Bosi; Stefano Stagi; Giulia Sansavini; Francesco Guzzi; Luigi Cirillo; Augusto Vaglio; Luisa Murer; Licia Peruzzi; Andrea Pasini; Marco Materassi; Rosa Maria Roperto; Hans-Joachim Anders; Mario Rotondi; Sabrina Rita Giglio; Paola Romagnani
Journal:  Clin J Am Soc Nephrol       Date:  2019-12-12       Impact factor: 8.237

Review 8.  The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Authors:  Marijn F Stokman; Kirsten Y Renkema; Rachel H Giles; Franz Schaefer; Nine V A M Knoers; Albertien M van Eerde
Journal:  Nat Rev Nephrol       Date:  2016-07-04       Impact factor: 28.314

9.  Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Authors:  Christine Gast; Reuben J Pengelly; Matthew Lyon; David J Bunyan; Eleanor G Seaby; Nikki Graham; Gopalakrishnan Venkat-Raman; Sarah Ennis
Journal:  Nephrol Dial Transplant       Date:  2015-09-07       Impact factor: 5.992

10.  A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Authors:  Carolin E Sadowski; Svjetlana Lovric; Shazia Ashraf; Werner L Pabst; Heon Yung Gee; Stefan Kohl; Susanne Engelmann; Virginia Vega-Warner; Humphrey Fang; Jan Halbritter; Michael J Somers; Weizhen Tan; Shirlee Shril; Inès Fessi; Richard P Lifton; Detlef Bockenhauer; Sherif El-Desoky; Jameela A Kari; Martin Zenker; Markus J Kemper; Dominik Mueller; Hanan M Fathy; Neveen A Soliman; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2014-10-27       Impact factor: 10.121
  10 in total
  1 in total

1.  Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.

Authors:  Eujin Park; Chung Lee; Nayoung K D Kim; Yo Han Ahn; Young Seo Park; Joo Hoon Lee; Seong Heon Kim; Min Hyun Cho; Heeyeon Cho; Kee Hwan Yoo; Jae Il Shin; Hee Gyung Kang; Il-Soo Ha; Woong-Yang Park; Hae Il Cheong
Journal:  J Clin Med       Date:  2020-06-26       Impact factor: 4.241
  1 in total

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