Article
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
Experimental & molecular medicine - 15 Dec 2017
Kang Hee Gyung, Lee Moses, Lee Kyoung Boon, Hughes Michael, Kwon Bo Sang, Lee Sangmoon, McNagny Kelly M, Ahn Yo Han, Ko Jung Min, Ha Il-Soo, Choi Murim, Cheong Hae Il
Abstract excerpt
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and...
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