(Q29147550)

English

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

scientific journal article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes (English)

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Centrosomal protein 290

1 reference

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

John E. Niederhuber

17

object named as

John E Niederhuber

0 references

NISC Comparative Sequencing Program

18

object named as

NISC Comparative Sequencing Program

1 reference

Europe PubMed Central

26 September 2017

PMC publication ID

James C Mullikin

14

object named as

James C Mullikin

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Europe PubMed Central

26 September 2017

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author name string

Thierry Vilboux

2

1 reference

Europe PubMed Central

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26 September 2017

Joshi Stephen

3

1 reference

Europe PubMed Central

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26 September 2017

Dino Maglic

4

1 reference

Europe PubMed Central

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26 September 2017

Luhe Mian

5

1 reference

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26 September 2017

Daniel Konzman

6

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Europe PubMed Central

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26 September 2017

Jennifer Guo

7

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26 September 2017

Deniz Yildirimli

8

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26 September 2017

Joy Bryant

9

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26 September 2017

Roxanne Fischer

10

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Europe PubMed Central

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26 September 2017

Joseph Snow

12

1 reference

Europe PubMed Central

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26 September 2017

Meghana Vemulapalli

13

1 reference

Europe PubMed Central

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26 September 2017

Camilo Toro

15

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26 September 2017

Meral Gunay-Aygun

20

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26 September 2017

May Christine V Malicdan

1

1 reference

Europe PubMed Central

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26 September 2017

Wadih M Zein

11

1 reference

Europe PubMed Central

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26 September 2017

Benjamin D Solomon

16

1 reference

Europe PubMed Central

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26 September 2017

John E Niederhuber

17

1 reference

Europe PubMed Central

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26 September 2017

William A Gahl

19

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Europe PubMed Central

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26 September 2017

language of work or name

0 references

publication date

18 September 2015

1 reference

Europe PubMed Central

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26 September 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

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26 September 2017

52

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Europe PubMed Central

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26 September 2017

12

1 reference

Europe PubMed Central

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26 September 2017

830-839

1 reference

Europe PubMed Central

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26 September 2017

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

KIAA0586 is Mutated in Joubert Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

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=5517294

3 June 2018

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

The mechanisms of Hedgehog signalling and its roles in development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Failure of centrosome migration causes a loss of motile cilia in talpid(3) mutants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Exome sequencing: the sweet spot before whole genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

3 June 2018

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103316

21 January 2018

Analysis of talpid3 and wild-type chicken embryos reveals roles for Hedgehog signalling in development of the limb bud vasculature.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103316

21 January 2018

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103316

21 January 2018

Co-occurrence of Joubert syndrome and 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=5517294

26 November 2018

DEVELOPMENTAL ABNORMALITIES IN THE TRUNK AND LIMBS OF THE TALPID3 MUTANT OF THE FOWL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

26 November 2018

Expression of ptc and gli genes in talpid3 suggests bifurcation in Shh pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5517294

26 November 2018

Identifiers

10.1136/JMEDGENET-2015-103316

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

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