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@ARTICLE{Knig:142063,
author = {J. C. König and A. Titieni and M. Konrad and C. Bergmann
and M. Cetiner and J. Drube and C. Gimpel and J. Göbel and
D. Haffner and T. Illig and N. Klopp and J. König and M.
Konrad and M. Lablans$^*$ and M. C. Liebau and S. Lienkamp
and C. Okorn and H. Omran and L. Pape and P. Pennekamp and
F. Schaefer and B. Schermer and H. Storf and A. Titieni and
F. Ückert$^*$ and S. Weber and W. Ziegler},
collaboration = {N. Consortium},
title = {{N}etwork for {E}arly {O}nset {C}ystic {K}idney
{D}iseases-{A} {C}omprehensive {M}ultidisciplinary
{A}pproach to {H}ereditary {C}ystic {K}idney {D}iseases in
{C}hildhood.},
journal = {Frontiers in Pediatrics},
volume = {6},
issn = {2296-2360},
address = {Lausanne},
publisher = {Frontiers Media},
reportid = {DKFZ-2018-02293},
pages = {24},
year = {2018},
abstract = {Hereditary cystic kidney diseases comprise a complex group
of genetic disorders representing one of the most common
causes of end-stage renal failure in childhood. The main
representatives are autosomal recessive polycystic kidney
disease, nephronophthisis, Bardet-Biedl syndrome, and
hepatocyte nuclear factor-1beta nephropathy. Within the last
years, genetic efforts have brought tremendous progress for
the molecular understanding of hereditary cystic kidney
diseases identifying more than 70 genes. Yet, genetic
heterogeneity, phenotypic variability, a lack of reliable
genotype-phenotype correlations and the absence of
disease-specific biomarkers remain major challenges for
physicians treating children with cystic kidney diseases. To
tackle these challenges comprehensive scientific approaches
are urgently needed that match the ongoing 'revolution' in
genetics and molecular biology with an improved efficacy of
clinical data collection. Network for early onset cystic
kidney diseases (NEOCYST) is a multidisciplinary,
multicenter collaborative combining a detailed collection of
clinical data with translational scientific approaches
addressing the genetic, molecular, and functional background
of hereditary cystic kidney diseases. Consisting of seven
work packages, including an international registry as well
as a biobank, NEOCYST is not only dedicated to current
scientific questions, but also provides a platform for
longitudinal clinical surveillance and provides precious
sources for high-quality research projects and future
clinical trials. Funded by the German Federal Government,
the NEOCYST collaborative started in February 2016. Here, we
would like to introduce the rationale, design, and
objectives of the network followed by a short overview on
the current state of progress.},
cin = {G230},
ddc = {610},
cid = {I:(DE-He78)G230-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29497606},
pmc = {pmc:PMC5819567},
doi = {10.3389/fped.2018.00024},
url = {https://inrepo02.dkfz.de/record/142063},
}