Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive poly...
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
About this item
Full title
Author / Creator
Lu, Hao , Galeano, Maria C Rondón , Ott, Elisabeth , Kaeslin, Geraldine , Kausalya, P Jaya , Kramer, Carina , Ortiz-Brüchle, Nadina , Hilger, Nadescha , Metzis, Vicki , 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 , Wright, Graham D , Hunziker, Walter , Gee, Heon Yung , Otto, Edgar A , Zerres, Klaus , Hildebrandt, Friedhelm , Roy, Sudipto , Wicking, Carol and Bergmann, Carsten
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Sudipto Roy, Carol Wicking, Carsten Bergmann and colleagues report that mutations in
DZIP1L
cause autosomal recessive polycystic kidney disease (ARPKD). Through studies of mouse and zebrafish models of
DZIP1L
loss of function, the authors demonstrate that DZIP1L is required for proper function of the periciliary diffusion barrier.
Au...
Alternative Titles
Full title
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
Authors, Artists and Contributors
Author / Creator
Galeano, Maria C Rondón
Ott, Elisabeth
Kaeslin, Geraldine
Kausalya, P Jaya
Kramer, Carina
Ortiz-Brüchle, Nadina
Hilger, Nadescha
Metzis, Vicki
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
Wright, Graham D
Hunziker, Walter
Gee, Heon Yung
Otto, Edgar A
Zerres, Klaus
Hildebrandt, Friedhelm
Roy, Sudipto
Wicking, Carol
Bergmann, Carsten
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5687889
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5687889
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3871
