Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract | Zendy

Stefan Kohl | Zendy; Jing Chen | Zendy; Asaf Vivante | Zendy; DawYang Hwang | Zendy; Shirlee Shril | Zendy; Gabriel C. Dworschak | Zendy; Amelie van der Ven | Zendy; Simone SannaCherchi | Zendy; Stuart B. Bauer | Zendy; Richard S. Lee | Zendy; Neveen A. Soliman | Zendy; Elijah O. Kehinde | Zendy; Heiko Reutter | Zendy; Velibor Tasić | Zendy; Friedhelm Hildebrandt | Zendy

Open Access

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

Author(s) -

Stefan Kohl,

Jing Chen,

Asaf Vivante,

DawYang Hwang,

Shirlee Shril,

Gabriel C. Dworschak,

Amelie van der Ven,

Simone SannaCherchi,

Stuart B. Bauer,

Richard S. Lee,

Neveen A. Soliman,

Elijah O. Kehinde,

Heiko Reutter,

Velibor Tasić,

Friedhelm Hildebrandt

Publication year - 2016

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/gfv447

Subject(s) - kidney development , dicer , maldevelopment , genetics , biology , microrna , kidney , gene , drosha , phenotype , genitourinary system , urinary system , medicine , bioinformatics , endocrinology , anatomy , embryonic stem cell , small interfering rna , transfection , rna , rna interference

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney diseases in children and young adults, accounting for ∼50% of cases. These anomalies represent maldevelopment of the genitourinary system and can be genetically explained in only 10-16% of cases by mutations or by copy number variations in protein coding sequences. Knock-out mouse models, lacking components of the microRNA (miRNA) processing machinery (i.e. Dicer, Drosha, Dgcr8), exhibit kidney malformations resembling human CAKUT.

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