Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications-Reference-Cited by-同舟云学术

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Published:2017-03-06 Issue:4 Volume:38 Page:365-372
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Janecke Andreas R.¹²,Xu Ruijuan³⁴,Steichen-Gersdorf Elisabeth¹,Waldegger Siegfried¹,Entenmann Andreas¹,Giner Thomas¹,Krainer Iris¹,Huber Lukas A⁵,Hess Michael W⁶,Frishberg Yaacov⁷,Barash Hila⁸,Tzur Shay⁹¹⁰,Schreyer-Shafir Nira¹¹,Sukenik-Halevy Rivka¹¹¹²,Zehavi Tania¹³,Raas-Rothschild Annick⁸¹²,Mao Cungui³⁴,Müller Thomas¹

Affiliation:

1. Department of Pediatrics I; Medical University of Innsbruck; Innsbruck Austria

2. Division of Human Genetics; Medical University of Innsbruck; Innsbruck Austria

3. Department of Medicine; State University of New York (SUNY) at Stony Brook; Stony Brook New York

4. Stony Brook Cancer Center at State University of New York (SUNY) at Stony Brook; Stony Brook New York

5. Division of Cell Biology; Medical University of Innsbruck; Innsbruck Austria

6. Division of Histology and Embryology; Medical University of Innsbruck; Innsbruck Austria

7. Division of Pediatric Nephrology; Shaare Zedek Medical Center; Jerusalem Israel

8. Institute of Rare Diseases, Institute of Genetics; Sheba Medical center; Tel Hashomer Israel

9. Laboratory of Molecular Medicine; Rambam Health Care Campus; Haifa Israel

10. Genomic Research Department; Emedgene Technologies; Tel Aviv Israel

11. Genetics Institute; Meir Medical Center; Kfar Saba Israel

12. Sackler school of medicine; Tel Aviv University; Ramat Aviv Israel

13. Department of Pathology; Meir Medical center; Kfar Saba Israel

Funder

Oesterreichische Nationalbank

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference42 articles.

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3. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease;Anderson;Proceedings of the National Academy of Sciences of the United States of America,1994

4. Simultaneous quantitative analysis of bioactive sphingolipids by high-performance liquid chromatography-tandem mass spectrometry;Bielawski;Methods,2006

5. Sphingosine-1-phosphate lyase expression in embryonic and adult murine tissues;Borowsky;The Journal of Lipid Research,2012

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