(Q28000057)

12 December 2016

title

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition (English)

1 reference

Gene Ontology release 2020-05-02

PubMed

PubMed publication ID

12 December 2016

0 references

1 reference

Gene Ontology ID

GO:0036038

ciliary transition zone assembly

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905349

Transmembrane protein 67

1 reference

B9 protein domain 1

1 reference

Tectonic family member 2

1 reference

Tectonic family member 1

1 reference

MKS transition zone complex subunit 1

1 reference

Centrosomal protein 290

1 reference

Tectonic family member 3

1 reference

Transmembrane protein 216

1 reference

Coiled-coil and C2 domain containing 2A

1 reference

author

Friedhelm Hildebrandt

Francesc R Garcia-Gonzalo

13

0 references

Francesc R Garcia-Gonzalo

1

0 references

Edgar A. Otto

Edgar A Otto

5

0 references

Nicholas Katsanis

Nicholas Katsanis

12

0 references

José M García-Verdugo

José Manuel García-Verdugo

11

0 references

Gokul Ramaswami

4

Gokul Ramaswami

0 references

Kevin C Corbit

2

Kevin C Corbit

0 references

Allen D Seol

7

Allen D Seol

0 references

Jeremy F Reiter

14

Jeremy F Reiter

0 references

author name string

María Salomé Sirerol-Piquer

3

0 references

Thomas R Noriega

6

0 references

Jon F Robinson

8

0 references

Christopher L Bennett

9

0 references

Dragana J Josifova

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

10

0 references

language of work or name

English

0 references

publication date

3 July 2011

0 references

1 reference

43

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issue

8

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page(s)

776-84

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The nonmotile ciliopathies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

High-throughput generation of tagged stable cell lines for proteomic analysis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A systematic approach to mapping recessive disease genes in individuals from outbred populations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Vertebrate Smoothened functions at the primary cilium

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Small molecule modulation of Smoothened activity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Vertebrate limb development: moving from classical morphogen gradients to an integrated 4-dimensional patterning system

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Ftm is a novel basal body protein of cilia involved in Shh signalling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The graded response to Sonic Hedgehog depends on cilia architecture

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Hedgehog signalling in the mouse requires intraflagellar transport proteins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Cilia and Hedgehog responsiveness in the mouse

20 March 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.891

The primary cilium: a signalling centre during vertebrate development

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl 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=3145011

Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Primary cilia regulate mTORC1 activity and cell size through Lkb1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Interaction and Localization of the Retinitis Pigmentosa Protein RP2 and NSF in Retinal Photoreceptor Cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Reconstructing the evolutionary history of the centriole from protein components

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A mouse model for Meckel syndrome type 3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

The ultrastructure of the Chlamydomonas reinhardtii basal apparatus: identification of an early marker of radial asymmetry inherent in the basal body

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Linkage thresholds for two-stage genome scans

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145011

27 November 2018

Identifiers

DOI

10.1038/NG.891

1 reference

Dimensions Publication ID

1049709727

0 references

1 reference

1 reference

PubMed publication ID

21725307

1 reference