Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
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Author / Creator
Grampa, Valentina , Delous, Marion , Zaidan, Mohamad , Odye, Gweltas , Thomas, Sophie , Elkhartoufi, Nadia , Filhol, Emilie , Niel, Olivier , Silbermann, Flora , Lebreton, Corinne , Collardeau-Frachon, Sophie , Rouvet, Isabelle , Alessandri, Jean-Luc , Devisme, Louise , Dieux-Coeslier, Anne , Cordier, Marie-Pierre , Capri, Yline , Khung-Savatovsky, Suonavy , Sigaudy, Sabine , Salomon, Rémi , Antignac, Corinne , Gubler, Marie-Claire , Benmerah, Alexandre , Terzi, Fabiola , Attié-Bitach, Tania , Jeanpierre, Cécile and Saunier, Sophie
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetu...
Alternative Titles
Full title
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Authors, Artists and Contributors
Author / Creator
Delous, Marion
Zaidan, Mohamad
Odye, Gweltas
Thomas, Sophie
Elkhartoufi, Nadia
Filhol, Emilie
Niel, Olivier
Silbermann, Flora
Lebreton, Corinne
Collardeau-Frachon, Sophie
Rouvet, Isabelle
Alessandri, Jean-Luc
Devisme, Louise
Dieux-Coeslier, Anne
Cordier, Marie-Pierre
Capri, Yline
Khung-Savatovsky, Suonavy
Sigaudy, Sabine
Salomon, Rémi
Antignac, Corinne
Gubler, Marie-Claire
Benmerah, Alexandre
Terzi, Fabiola
Attié-Bitach, Tania
Jeanpierre, Cécile
Saunier, Sophie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1781391958
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1781391958
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1005894
