(Q34541509)

2 August 2017

title

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. (English)

1 reference

oral-facial-digital syndrome

2 August 2017

main subject

1 reference

Carla A M Lopes

1

1 reference

2 August 2017

Suzanna L Prosser

2

1 reference

2 August 2017

Leila Romio

3

1 reference

2 August 2017

Robert A Hirst

4

1 reference

2 August 2017

Chris O'Callaghan

5

1 reference

2 August 2017

Adrian S Woolf

6

1 reference

2 August 2017

Andrew M Fry

7

1 reference

2 August 2017

language of work or name

English

0 references

publication date

25 January 2011

1 reference

2 August 2017

published in

Journal of Cell Science

1 reference

2 August 2017

volume

124

1 reference

2 August 2017

issue

Pt 4

1 reference

2 August 2017

page(s)

600-612

1 reference

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

2 August 2017

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7 July 2018

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7 July 2018

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Ofd1, a human disease gene, regulates the length and distal structure of centrioles

7 July 2018

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7 July 2018

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7 July 2018

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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

7 July 2018

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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

7 July 2018

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7 July 2018

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Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

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7 July 2018

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Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

7 July 2018

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

7 July 2018

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Tandem affinity purification of the BBSome, a critical regulator of Rab8 in ciliogenesis

7 July 2018

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Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

7 July 2018

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Cep164, a novel centriole appendage protein required for primary cilium formation

7 July 2018

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

7 July 2018

1 reference

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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

7 July 2018

1 reference

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

7 July 2018

1 reference

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Plk4-induced centriole biogenesis in human cells

7 July 2018

1 reference

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Molecular characterization of centriole assembly in ciliated epithelial cells

7 July 2018

1 reference

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Cilia: tuning in to the cell's antenna.

7 July 2018

1 reference

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The primary cilium as the cell's antenna: signaling at a sensory organelle

7 July 2018

1 reference

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

7 July 2018

1 reference

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

7 July 2018

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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

7 July 2018

1 reference

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7 July 2018

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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

7 July 2018

1 reference

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Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.

7 July 2018

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Dynamic recruitment of Nek2 kinase to the centrosome involves microtubules, PCM-1, and localized proteasomal degradation.

7 July 2018

1 reference

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OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

7 July 2018

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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Non-membranous granular organelle consisting of PCM-1: subcellular distribution and cell-cycle-dependent assembly/disassembly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Assembly of centrosomal proteins and microtubule organization depends on PCM-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Identification of the gene for oral-facial-digital type I syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle distribution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3031371

Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21266464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1242/JCS.077156

1 reference

2 August 2017

1 reference

2 August 2017

1 reference