Nephronophthisis: A review of genotype–phenotype correlation

Autor: Fenglan Luo, Yu‐Hong Tao

Publikováno v: Nephrology (Carlton, Vic.)

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end‐stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167bae944cdc735b415260e0f973489a
http://europepmc.org/articles/PMC6175366

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

Autor: Miguel Barroso-Gil, John A. Sayer, Eric Olinger, Intisar Al Alawi, Mohammed S. Al Riyami, Issa Al Salmi, Laura Powell

Publikováno v: F1000Research

Background: Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as wel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf747dc996c973c2fa65605232bb15
https://doi.org/10.12688/f1000research.40338.2

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

Autor: Marc R. Lilien, Kirsten Y. Renkema, Ernie M.H.F. Bongers, Thang V. Pham, Irene V. Bijnsdorp, Connie R. Jimenez, Jaco C. Knol, Rachel H. Giles, Marijn Stokman, Nine V A M Knoers, Tim Schelfhorst, Sander R. Piersma

Publikováno v: Journal of Proteomics, 192, 27-36
Journal of Proteomics, 192, pp. 27-36
Stokman, M F, Bijnsdorp, I V, Schelfhorst, T, Pham, T V, Piersma, S R, Knol, J C, Giles, R H, Bongers, E M H F, Knoers, N V A M, Lilien, M R, Jiménez, C R & Renkema, K Y 2019, ' Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies ', Journal of Proteomics, vol. 192, pp. 27-36 . https://doi.org/10.1016/j.jprot.2018.07.008
Journal of proteomics, 192, 27-36. ELSEVIER SCIENCE BV
Journal of Proteomics, 192, 27. Elsevier
Journal of Proteomics, 192, 27-36. Elsevier

Nephronophthisis is one of the leading genetic causes of end-stage renal disease in childhood. Early diagnostics and prognostics for nephronophthisis are currently limited. We aimed to identify non-invasive protein biomarkers for nephronophthisis in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818385ee125a63d375324be24859c18c
http://hdl.handle.net/2066/200873

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