Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation (Q35954123)

11 August 2017

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation (English)

1 reference

Sophie Collardeau-Frachon

11 August 2017

11

Sophie Collardeau-Frachon

1 reference

11 August 2017

25

Tania Attié-Bitach

0 references

Gweltas Odye

Gweltas Odye

4

0 references

Marion Delous

Marion Delous

2

0 references

Corinne Lebreton

Corinne Lebreton

10

0 references

Cécile Jeanpierre

Cécile Jeanpierre

26

0 references

Sophie Saunier

Sophie Saunier

27

0 references

Alexandre Benmerah

Alexandre Benmerah

23

0 references

Marie-Claire Gubler

Marie-Claire Gubler

22

0 references

Corinne Antignac

Corinne Antignac

21

0 references

Sophie Thomas

5

Sophie Thomas

1 reference

11 August 2017

17

Yline Capri

1 reference

11 August 2017

Valentina Grampa

1

1 reference

11 August 2017

Mohamad Zaidan

3

1 reference

11 August 2017

Nadia Elkhartoufi

6

1 reference

11 August 2017

Emilie Filhol

7

1 reference

11 August 2017

Olivier Niel

8

1 reference

11 August 2017

Flora Silbermann

9

1 reference

11 August 2017

Isabelle Rouvet

12

1 reference

11 August 2017

Jean-Luc Alessandri

13

1 reference

11 August 2017

Louise Devisme

14

1 reference

11 August 2017

Anne Dieux-Coeslier

15

1 reference

11 August 2017

Marie-Pierre Cordier

16

1 reference

11 August 2017

Suonavy Khung-Savatovsky

18

1 reference

11 August 2017

Sabine Sigaudy

19

1 reference

11 August 2017

Rémi Salomon

20

1 reference

11 August 2017

Fabiola Terzi

24

1 reference

11 August 2017

11 March 2016

1 reference

11 August 2017

1 reference

11 August 2017

12

1 reference

11 August 2017

3

1 reference

11 August 2017

e1005894

1 reference

Creative Commons Attribution 4.0 International

11 August 2017

start time

11 March 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Atypical protein kinase C induces cell transformation by disrupting Hippo/Yap signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Actin remodelling factors control ciliogenesis by regulating YAP/TAZ activity and vesicle trafficking

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Nephronophthisis and related syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The biology of YAP/TAZ: hippo signaling and beyond

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Hippo pathway activity influences liver cell fate

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The Hippo pathway effectors TAZ and YAP in development, homeostasis and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Yap- and Cdc42-dependent nephrogenesis and morphogenesis during mouse kidney development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The Hippo pathway: regulators and regulations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Yes-associated protein up-regulates Jagged-1 and activates the Notch pathway in human hepatocellular carcinoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Emerging roles of TEAD transcription factors and its coactivators in cancers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Loss of the ciliary kinase Nek8 causes left-right asymmetry defects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Cell cycle regulation by the NEK family of protein kinases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Current insights into renal ciliopathies: what can genetics teach us?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Clinical spectrum and pathogenesis of nephronophthisis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Zebrafish assays of ciliopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Lipocalin 2 is essential for chronic kidney disease progression in mice and humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Gamma-H2AX - a novel biomarker for DNA double-strand breaks.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Inactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth control

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

CTGF is a central mediator of tissue remodeling and fibrosis and its inhibition can reverse the process of fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Control of tissue growth by Yap relies on cell density and F-actin in zebrafish fin regeneration.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

CCN2: a master regulator of the genesis of bone and cartilage

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Hepatocyte nuclear factor 1β controls nephron tubular development

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

The Crumbs complex couples cell density sensing to Hippo-dependent control of the TGF-β-SMAD pathway.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Defective planar cell polarity in polycystic kidney disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4788435

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005894

Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26967905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26967905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1005894

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26967905

1 reference