Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease-Reference-Cited by-同舟云学术

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Published:2017-05-22 Issue:7 Volume:49 Page:1025-1034
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lu Hao,Galeano Maria C Rondón,Ott Elisabeth,Kaeslin Geraldine,Kausalya P Jaya,Kramer Carina,Ortiz-Brüchle Nadina,Hilger Nadescha,Metzis Vicki^ORCID,Hiersche Milan,Tay Shang Yew,Tunningley Robert,Vij Shubha,Courtney Andrew D,Whittle Belinda,Wühl Elke,Vester Udo,Hartleben Björn,Neuber Steffen,Frank Valeska,Little Melissa H,Epting Daniel,Papathanasiou Peter,Perkins Andrew C^ORCID,Wright Graham D^ORCID,Hunziker Walter^ORCID,Gee Heon Yung^ORCID,Otto Edgar A,Zerres Klaus,Hildebrandt Friedhelm,Roy Sudipto,Wicking Carol,Bergmann Carsten

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3871.pdf

Reference65 articles.

1. Guay-Woodford, L.M. et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J. Pediatr. 165, 611–617 (2014).

2. Bergmann, C. et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 67, 829–848 (2005).

3. Habbig, S. & Liebau, M.C. Ciliopathies: from rare inherited cystic kidney diseases to basic cellular function. Mol Cell Pediatr 2, 8 (2015).

4. Garcia-Gonzalo, F.R. et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43, 776–784 (2011).

5. Jensen, V.L. et al. Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance. EMBO J. 34, 2537–2556 (2015).

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