Mutation analyses of Uroplakin II in children with renal tract malformations | Zendy

Dagan Jenkins | Zendy; Maria BitnerGlindzicz | Zendy; S Malcolm | Zendy; Jennifer Allison | Zendy; Rose de Bruyn | Zendy; Sarah E. Flanagan | Zendy; D.F.M. Thomas | Zendy; Rachel Belk | Zendy; Sally Feather | Zendy; Coralie Bingham | Zendy; Jennifer Southgate | Zendy; Adrian S. Woolf | Zendy

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Mutation analyses of Uroplakin II in children with renal tract malformations

Author(s) -

Dagan Jenkins,

Maria BitnerGlindzicz,

S Malcolm,

Jennifer Allison,

Rose de Bruyn,

Sarah E. Flanagan,

D.F.M. Thomas,

Rachel Belk,

Sally Feather,

Coralie Bingham,

Jennifer Southgate,

Adrian S. Woolf

Publication year - 2006

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfl465

Subject(s) - hydronephrosis , renal pelvis , medicine , urothelium , urinary system , pathology , kidney , ureter , frameshift mutation , pathogenesis , nephropathy , mutation , biology , genetics , urology , endocrinology , gene , diabetes mellitus

Uroplakin (UP) proteins cover urothelial apical surfaces. Mice lacking UPIIIa have elevated urothelial permeability and congenital renal tract anomalies, and UPIIIa mutations have been reported in children with kidney and ureter malformations. Mice with null mutation of another UP family member, UPII, are often born with congenital hydronephrosis. We hypothesized that UPII mutations may be present in humans with renal tract malformations.

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