Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

doi:10.1038/ki.2013.417

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Article

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Kidney international - 1 Jun 2014

Saisawat Pawaree, Kohl Stefan, Hilger Alina C, Hwang Daw-Yang, Yung Gee Heon, Dworschak Gabriel C, Tasic Velibor, Pennimpede Tracie, Natarajan Sivakumar, Sperry Ethan, Matassa Danilo S, Stajić Nataša, Bogdanovic Radovan, de Blaauw Ivo, Marcelis Carlo L M, Wijers Charlotte H W, Bartels Enrika, Schmiedeke Eberhard, Schmidt Dominik, Märzheuser Stefanie, Grasshoff-Derr Sabine, Holland-Cunz Stefan, Ludwig Michael, Nöthen Markus M, Draaken Markus, Brosens Erwin, Heij Hugo, Tibboel Dick, Herrmann Bernhard G, Solomon Benjamin D, de Klein Annelies, van Rooij Iris A L M, Esposito Franca, Reutter Heiko M, Hildebrandt Friedhelm

Abstract excerpt

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in...

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PMID: 24152966
DOI: 10.1038/ki.2013.417
PMCID: PMC3997628

Genes

TRAP1
TNF

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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.PMID 24152966Read ↗

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