(Q28975782)

GOA release 2020-03-11

author

Sophie Saunier

34

0 references

Friedhelm Hildebrandt

35

0 references

Patrick Nitschké

16

Patrick Nitschké

0 references

Christine Bôle-Feysot

15

Christine Bole-Feysot

0 references

Albane A Bizet

Albane Bizet

9

0 references

Marion Delous

Marion Delous

3

0 references

Stefan Johansson

32

Stefan Johansson

1 reference

21 March 2017

10

Daniela A. Braun

1 reference

21 March 2017

6

Emilie Filhol

1 reference

21 March 2017

4

Cecilie Bredrup

1 reference

21 March 2017

26

Helge Boman

1 reference

21 March 2017

33

Eyvind Rødahl

1 reference

21 March 2017

25

Per M. Knappskog

1 reference

21 March 2017

12

Flora Silbermann

1 reference

21 March 2017

Maxence S. Macia

1

1 reference

21 March 2017

Jan Halbritter

2

1 reference

21 March 2017

Arthur Gutter

5

1 reference

21 March 2017

Anne E. C. Mellgren

7

1 reference

21 March 2017

Sabine Leh

8

1 reference

21 March 2017

Heon Y. Gee

11

1 reference

21 March 2017

Charline Henry

13

1 reference

21 March 2017

Pauline Krug

14

1 reference

21 March 2017

Patrick Nitschké

16

1 reference

21 March 2017

Dominique Joly

17

1 reference

21 March 2017

Philippe Nicoud

18

1 reference

21 March 2017

André Paget

19

1 reference

21 March 2017

Heidi Haugland

20

1 reference

21 March 2017

Damien Brackmann

21

1 reference

21 March 2017

Nayir Ahmet

22

1 reference

21 March 2017

Richard Sandford

23

1 reference

21 March 2017

Nurcan Cengiz

24

1 reference

21 March 2017

Bolan Linghu

27

1 reference

21 March 2017

Fan Yang

28

1 reference

21 March 2017

Edward J. Oakeley

29

1 reference

21 March 2017

Pierre Saint Mézard

30

1 reference

21 March 2017

Andreas W. Sailer

31

1 reference

21 March 2017

Alexandre Benmerah

American Journal of Human Genetics

36

1 reference

21 March 2017

language of work or name

English

0 references

publication date

2 February 2017

1 reference

21 March 2017

1 reference

21 March 2017

100

1 reference

21 March 2017

2

1 reference

21 March 2017

323–333

1 reference

21 March 2017

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Nephronophthisis and related syndromes

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Proteomic analysis of mammalian primary cilia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

WDR62 is associated with the spindle pole and is mutated in human microcephaly

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Proteomic characterization of the human centrosome by protein correlation profiling

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Initiation of DNA fragmentation during apoptosis induces phosphorylation of H2AX histone at serine 139

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

A novel Jun N-terminal kinase (JNK)-binding protein that enhances the activation of JNK by MEK kinase 1 and TGF-beta-activated kinase 1

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Molecular evolution of WDR62, a gene that regulates neocorticogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Proteomics of Primary Cilia by Proximity Labeling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Are renal ciliopathies (replication) stressed out?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

The Role of JNK Signalling in Responses to Oxidative DNA Damage

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

JNK-binding protein 1 regulates NF-kappaB activation through TRAF2 and TAK1.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294754

Aphidicolin prevents mitotic cell division by interfering with the activity of DNA polymerase-alpha

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28089251