(Q36814753)

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

scientific article published on 20 April 2016

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scholarly article

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2 April 2020

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function (English)

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2 April 2020

Claudio R Cortés

1

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2 April 2020

Aideen M McInerney-Leo

2

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2 April 2020

3

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2 April 2020

Matthew A. Brown

9

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2 April 2020

11

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2 April 2020

13

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2 April 2020

author name string

Maria C Rondón Galeano

4

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2 April 2020

Paul J Leo

5

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2 April 2020

Jessica E Harris

6

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2 April 2020

Lisa K Anderson

7

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2 April 2020

Patricia A Keith

8

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2 April 2020

Mette Ramsing

10

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2 April 2020

Andreas Zankl

12

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2 April 2020

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publication date

20 April 2016

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2 April 2020

Scientific Reports

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2 April 2020

6

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2 April 2020

24083

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2 April 2020

copyright license

Creative Commons Attribution 4.0 International

20 April 2016

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April 2022 Public Data File from Crossref

copyright status

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https://scigraph.springernature.com/pub.10.1038/srep24083

0 references

Unmasking the ciliopathies: craniofacial defects and the primary cilium

1 reference

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29 September 2017

Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Clinical genetics and pathobiology of ciliary chondrodysplasias.

1 reference

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29 September 2017

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

1 reference

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29 September 2017

Centriolar satellites: key mediators of centrosome functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

C2 domains as protein-protein interaction modules in the ciliary transition zone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Primary cilia are specialized calcium signalling organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Two appendages homologous between basal bodies and centrioles are formed using distinct Odf2 domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

C5orf42 is the major gene responsible for OFD syndrome type VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Centriole distal appendages promote membrane docking, leading to cilia initiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

TCTN3 mutations cause Mohr-Majewski syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Regulating the transition from centriole to basal body

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

NEK1 mutations cause short-rib polydactyly syndrome type majewski

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Dindel: accurate indel calls from short-read data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

29 September 2017

The orofaciodigital (OFD) syndromes

1 reference

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MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837335

5 September 2018

Are the oral-facial-digital syndromes ciliopathies?

1 reference

https://pubmed.ncbi.nlm.nih.gov/27094867

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/SREP24083

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Europe PubMed Central

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2 April 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094867%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094867%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

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