Ontology highlight
ABSTRACT:
SUBMITTER: Gimelli S
PROVIDER: S-EPMC3056145 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Gimelli Stefania S Caridi Gianluca G Beri Silvana S McCracken Kyle K Bocciardi Renata R Zordan Paola P Dagnino Monica M Fiorio Patrizia P Murer Luisa L Benetti Elisa E Zuffardi Orsetta O Giorda Roberto R Wells James M JM Gimelli Giorgio G Ghiggeri Gian Marco GM
Human mutation 20101109 12
Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction). One mutation, c.775T>A (p ...[more]