Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

doi:10.1371/journal.pgen.1005894

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

PLoS genetics - 1 Mar 2016

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, Saunier Sophie

Abstract excerpt

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/fetuses were analyzed by a targeted high throughput sequencing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cilia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Morphogenesis

Share to NIMA-Related Kinases

Share to Phosphoproteins

Share to Polycystic Kidney Diseases

Share to Porphyrins

Share to Protein Kinases

Share to YAP-Signaling Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 26967905
DOI: 10.1371/journal.pgen.1005894
PMCID: PMC4788435

Genes

NEK8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.PMID 26967905Read ↗

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.Semantic proximity Read ↗

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defectsSemantic proximity Read ↗

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.Semantic proximity Read ↗

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.Semantic proximity Read ↗

Ciliopathies.Semantic proximity Read ↗

mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 MutantsSemantic proximity Read ↗

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.Semantic proximity Read ↗

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.Semantic proximity Read ↗

Renal Pathology of CiliopathiesSemantic proximity Read ↗

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause NephronophthisisSemantic proximity Read ↗

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.Semantic proximity Read ↗

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.