Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling (Q24294774)

GOA release 2020-03-11

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on focus list of Wikimedia project

19 October 2023

language of work or name

English

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publication date

3 August 2012

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published in

Cell

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volume

150

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issue

3

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page(s)

533-48

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ScienceSource

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

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

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

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

19 March 2017

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

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A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

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Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

19 March 2017

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

19 March 2017

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19 March 2017

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

19 March 2017

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

19 March 2017

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The KLHL12-Cullin-3 ubiquitin ligase negatively regulates the Wnt-beta-catenin pathway by targeting Dishevelled for degradation

19 March 2017

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Poly(ADP-ribose) polymerase 1 interacts with OAZ and regulates BMP-target genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

19 March 2017

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

19 March 2017

1 reference

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A Wnt7b-dependent pathway regulates the orientation of epithelial cell division and establishes the cortico-medullary axis of the mammalian kidney

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Cilia and Hedgehog responsiveness in the mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Hedgehog signalling in the mouse requires intraflagellar transport proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Identification of DNA recognition sequences and protein interaction domains of the multiple-Zn-finger protein Roaz

19 March 2017

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Parametric and nonparametric linkage analysis: a unified multipoint approach

19 March 2017

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Pericentrin, a highly conserved centrosome protein involved in microtubule organization

19 March 2017

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19 March 2017

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The proteome of the mouse photoreceptor sensory cilium complex

7 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

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7 April 2017

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

7 April 2017

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Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Is post-transcriptional stabilization, splicing and translation of selective mRNAs a key to the DNA damage response?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Functional genomic screens identify CINP as a genome maintenance protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Nephronophthisis: disease mechanisms of a ciliopathy

27 September 2017

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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

27 September 2017

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PML protein association with specific nucleolar structures differs in normal, tumor and senescent human cells

27 September 2017

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Cdk inhibition in human cells compromises chk1 function and activates a DNA damage response.

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Checking out the centrosome

27 September 2017

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Cell-cycle-dependent three-dimensional redistribution of nuclear proteins, P 120, pKi-67, and SC 35 splicing factor, in the presence of the topoisomerase I inhibitor camptothecin.

27 September 2017

1 reference

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Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

27 September 2017

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Splicing regulator SC35 is essential for genomic stability and cell proliferation during mammalian organogenesis

27 September 2017

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Association of adipogenic genes with SC-35 domains during porcine adipogenesis

30 May 2018

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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

Defective planar cell polarity in polycystic kidney disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433835

29 November 2018

Linking cilia to Wnts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22863007

12 December 2020

inferred from PubMed ID database lookup

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Beta-arrestin is a necessary component of Wnt/beta-catenin signaling in vitro and in vivo.

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Nephrocystin-3 is required for ciliary function in zebrafish embryos

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

Wnt-5a induces Dishevelled phosphorylation and dopaminergic differentiation via a CK1-dependent mechanism

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2012.06.028

7 January 2021

10.1016/J.CELL.2012.06.028

Identifiers

DOI

1 reference

release_oc5oqvgolncmjix2czcnklvq74

Fatcat ID

0 references

1 reference

1 reference

1 reference