Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis (Q24309344)

22 June 2017

title

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis (English)

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22 June 2017

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Centrosomal protein 290

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McKusick-Kaufman syndrome

GOA release 2020-03-11

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GOA release 2020-03-11

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24

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22 June 2017

Samuel G Jacobson

16

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Matthew Brooks

12

object named as

Matthew Brooks

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22 June 2017

15

Tiansen Li

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22 June 2017

21

Hemant Khanna

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22 June 2017

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Thomas B Friedman

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22

Robert K Koenekoop

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22 June 2017

Carlos A Murga-Zamalloa

6

object named as

Carlos Murga-Zamalloa

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22 June 2017

1

Rivka A Rachel

1 reference

22 June 2017

5

Byung Yoon Choi

1 reference

22 June 2017

3

Shobi Veleri

1 reference

22 June 2017

13

Anneke I den Hollander

1 reference

22 June 2017

Helen L May-Simera

2

1 reference

22 June 2017

Norimoto Gotoh

4

1 reference

22 June 2017

Jeremy C McIntyre

7

1 reference

22 June 2017

Jonah Marek

8

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22 June 2017

Irma Lopez

9

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22 June 2017

Alice N Hackett

10

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22 June 2017

Jun Zhang

11

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Philip L Beales

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Raman Sood

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Jeffrey R Martens

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22 June 2017

Paul Liu

19

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22 June 2017

Matthew W Kelley

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22 June 2017

language of work or name

English

0 references

publication date

26 March 2012

1 reference

Journal of Clinical Investigation

22 June 2017

published in

1 reference

22 June 2017

volume

122

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22 June 2017

issue

4

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22 June 2017

page(s)

1233-1245

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describes a project that uses

22 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314468/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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

19 March 2017

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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

19 March 2017

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19 March 2017

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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

19 March 2017

1 reference

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

19 March 2017

1 reference

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CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

19 March 2017

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19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

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

19 March 2017

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

19 March 2017

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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

19 March 2017

1 reference

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Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

19 March 2017

1 reference

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

19 March 2017

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

19 March 2017

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Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet

19 March 2017

1 reference

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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

19 March 2017

1 reference

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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

19 March 2017

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19 March 2017

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Ciliogenesis: building the cell's antenna

19 March 2017

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

19 March 2017

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19 March 2017

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Genetic and physical interaction between the NPHP5 and NPHP6 gene products

19 March 2017

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A role for the primary cilium in Notch signaling and epidermal differentiation during skin development

19 March 2017

1 reference

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Complex interactions between genes controlling trafficking in primary cilia

19 March 2017

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

19 March 2017

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19 March 2017

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

19 March 2017

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

19 March 2017

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Ciliary proteins link basal body polarization to planar cell polarity regulation

19 March 2017

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19 March 2017

1 reference

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

7 April 2017

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7 April 2017

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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=3314468

The proteome of the mouse photoreceptor sensory cilium complex

7 April 2017

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

7 April 2017

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

7 April 2017

1 reference

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Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Making sense of cilia in disease: the human ciliopathies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Joubert syndrome: insights into brain development, cilium biology, and complex disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

HA-tagging of putative flagellar proteins in Chlamydomonas reinhardtii identifies a novel protein of intraflagellar transport complex B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Leber congenital amaurosis: genes, proteins and disease mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Genetic insights into the morphogenesis of inner ear hair cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Mutations in MKKS cause Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

The development of the olfactory mucosa in the mouse: electron microscopy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber 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=3314468

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=3314468

Dissecting the Molecular Mechanisms of Intraflagellar Transport in Chlamydomonas

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314468

Ciliary trafficking: CEP290 guards a gated community

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22446187

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI60981

1 reference

OpenCitations bibliographic resource ID

22 June 2017

4367871

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4367871

1 reference