(Q33919616)

30 July 2017

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis (English)

1 reference

30 July 2017

1 reference

Ann Marie Hynes

1

1 reference

30 July 2017

Rachel H Giles

2

1 reference

30 July 2017

Shalabh Srivastava

3

1 reference

30 July 2017

Lorraine Eley

4

1 reference

30 July 2017

Jennifer Whitehead

5

1 reference

30 July 2017

Marina Danilenko

6

1 reference

30 July 2017

Shreya Raman

7

1 reference

30 July 2017

Gisela G Slaats

8

1 reference

30 July 2017

John G Colville

9

1 reference

30 July 2017

Henry Ajzenberg

10

1 reference

30 July 2017

Hester Y Kroes

11

1 reference

30 July 2017

Peter E Thelwall

12

1 reference

30 July 2017

Nicholas L Simmons

13

1 reference

30 July 2017

Colin G Miles

14

1 reference

30 July 2017

John A Sayer

15

1 reference

30 July 2017

language of work or name

English

0 references

publication date

19 June 2014

1 reference

Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

1 reference

30 July 2017

111

1 reference

30 July 2017

9893-9898

1 reference

30 July 2017

27

1 reference

Wnt-induced transcriptional activation is exclusively mediated by TCF/LEF.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Postnatal isoform switch and protein localization of LEF1 and TCF7L2 transcription factors in cortical, thalamic, and mesencephalic regions of the adult mouse brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Fiji: an open-source platform for biological-image analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

The primary cilium: a signalling centre during vertebrate development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

The primary cilium at the crossroads of mammalian hedgehog signaling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Patched1 regulates hedgehog signaling at the primary cilium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Human naive CD8 T cells down-regulate expression of the WNT pathway transcription factors lymphoid enhancer binding factor 1 and transcription factor 7 (T cell factor-1) following antigen encounter in vitro and in vivo

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Cilia and Hedgehog responsiveness in the mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

The Wnt signaling pathway in development and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Proteomic characterization of the human centrosome by protein correlation profiling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Hedgehog signalling in the mouse requires intraflagellar transport proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Corticosteroid-dependent sodium transport in a novel immortalized mouse collecting duct principal cell line.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Cellular and subcellular immunolocalization of vasopressin-regulated water channel in rat kidney

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

28 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Expanding CEP290 mutational spectrum in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Clinical utility gene card for: Joubert syndrome--update 2013.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Proximal events in Wnt signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

TCTN3 mutations cause Mohr-Majewski syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322373111

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103340

Strain difference in expression of the adult-type polycystic kidney disease gene, pcy, in the mouse

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24946806

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Localization of transgenes and genotyping of H-2kb-tsA58 transgenic mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24946806

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ciliary trafficking: CEP290 guards a gated community

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24946806

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1322373111

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference