Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies (Q24651557)

12 December 2016

title

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies (English)

1 reference

12 December 2016

22

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Enza Maria Valente

24

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Francesco Brancati

3

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Lihadh Al-Gazali

5

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0 references

15

Eugen Boltshauser

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Rasim Ozgur Rosti

10

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Maha Zaki

8

Maha S Zaki

0 references

Stephanie L. Bielas

Stephanie L Bielas

1

0 references

Lorena Travaglini

Lorena Travaglini

17

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Riad Bayoumi

Riad A Bayoumi

7

0 references

Elisa Fazzi

Elisa Fazzi

16

0 references

Enrico Bertini

Enrico Bertini

3

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Seth Field

Seth J Field

18

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Joseph G Gleeson

25

Joseph G Gleeson

0 references

Jennifer L Silhavy

2

Jennifer L Silhavy

0 references

Dominika Swistun

12

Dominika Swistun

0 references

Alice Abdel Aleem

9

Alice Abdel-Aleem

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author name string

Marina V Kisseleva

4

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Laszlo Sztriha

6

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Lesley C Scott

13

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Stephanie Gayral

19

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Monique Jacoby

20

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Stephane Schurmans

21

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Philip W Majerus

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

23

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language of work or name

English

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publication date

September 2009

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published in

Nature Genetics

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volume

41

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issue

9

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page(s)

1032-6

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

HEF1-dependent Aurora A activation induces disassembly of the primary cilium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

G-protein signaling through tubby proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Isolation and characterization of two 3-phosphatases that hydrolyze both phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

The graded response to Sonic Hedgehog depends on cilia architecture

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Phosphoinositides as regulators of membrane trafficking in health and disease.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Genotypes and phenotypes of Joubert syndrome and related disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Phosphatidylinositol 3-phosphate [PtdIns3P] is generated at the plasma membrane by an inositol polyphosphate 5-phosphatase: endogenous PtdIns3P can promote GLUT4 translocation to the plasma membrane

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Piecing together a ciliome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Phosphoinositide-specific inositol polyphosphate 5-phosphatase IV inhibits Akt/protein kinase B phosphorylation and leads to apoptotic cell death

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Telomerase expression in human somatic cells does not induce changes associated with a transformed phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Experimental model for studying the primary cilia in tissue culture cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Centriole ciliation is related to quiescence and DNA synthesis in 3T3 cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2746682

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

30 May 2018

1 reference

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells

21 January 2018

1 reference

Proliferation versus migration in platelet-derived growth factor signaling: the key role of endocytosis.

21 January 2018

1 reference

Cell biology. Arrestin' movement in cilia.

21 January 2018

1 reference

A highly informative SNP linkage panel for human genetic studies.

21 January 2018

1 reference

Genetic and neuroradiological heterogeneity of double cortex syndrome.

21 January 2018

1 reference

The influence of anionic lipids on SHIP2 phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase activity

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19668216

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool

1 reference

https://pubmed.ncbi.nlm.nih.gov/19668216

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic and neuroradiological heterogeneity of double cortex syndrome

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.423

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Dimensions Publication ID

1051487041

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OpenCitations bibliographic resource ID

1 reference

1 reference

12 December 2016

1 reference