(Q29465790)

26 June 2017

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (English)

1 reference

Tctex1 domain containing 2

26 June 2017

0 references

1 reference

regulation of intraciliary retrograde transport

GOA release 2020-03-11

1 reference

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

GOA release 2020-03-11

corrigendum / erratum

0 references

author

Hulya Kayserili

18

0 references

Claudio R Cortés

Claudio R Cortés

3

0 references

Carol Wicking

Carol Wicking

24

0 references

Celine Huber

Celine Huber

5

0 references

Miriam Schmidts

Miriam Schmidts

1

0 references

Peter J Scambler

Peter J Scambler

16

0 references

Valérie Cormier-Daire

Valerie Cormier-Daire

25

0 references

Lihadh Al-Gazali

23

Lihadh Al-Gazali

1 reference

ORCID Public Data File 2021

26 June 2017

0 references

1 reference

Jeroen van Reeuwijk

8

Jeroen van Reeuwijk

1 reference

26 June 2017

17

Marius Ueffing

1 reference

26 June 2017

Yuqing Hou

2

1 reference

26 June 2017

Dorus A Mans

4

1 reference

26 June 2017

Karsten Boldt

6

1 reference

26 June 2017

Mitali Patel

7

1 reference

26 June 2017

Jean-Marc Plaza

9

1 reference

26 June 2017

Sylvia E C van Beersum

10

1 reference

26 June 2017

Zhi Min Yap

11

1 reference

26 June 2017

Stef J F Letteboer

12

1 reference

26 June 2017

S Paige Taylor

13

1 reference

26 June 2017

Warren Herridge

14

1 reference

26 June 2017

Colin A Johnson

15

1 reference

26 June 2017

Deborah Krakow

19

1 reference

26 June 2017

Stephen M King

20

1 reference

26 June 2017

UK10K

21

1 reference

26 June 2017

Philip L Beales

22

1 reference

26 June 2017

Ronald Roepman

26

1 reference

26 June 2017

Hannah M Mitchison

27

1 reference

26 June 2017

George B Witman

28

1 reference

26 June 2017

Hulya Kayserili

18

1 reference

26 June 2017

language of work or name

English

0 references

publication date

5 June 2015

1 reference

full work available at URL

26 June 2017

http://eprints.whiterose.ac.uk/88410

content deliverer

White Rose Research Online

copyright license

Creative Commons Attribution 4.0 International

object has role

published version

1 reference

White Rose Research Online

http://eprints.whiterose.ac.uk/88410

15 December 2018

published in

Nature Communications

1 reference

26 June 2017

6

1 reference

26 June 2017

7074

1 reference

describes a project that uses

26 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4468853/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis

1 reference

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Subunit composition of the human cytoplasmic dynein-2 complex

18 April 2017

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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

18 April 2017

1 reference

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

18 April 2017

1 reference

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Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

18 April 2017

1 reference

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

18 April 2017

1 reference

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

18 April 2017

1 reference

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

18 April 2017

1 reference

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Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

18 April 2017

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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

18 April 2017

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Complex interactions between genes controlling trafficking in primary cilia

18 April 2017

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

18 April 2017

1 reference

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

18 April 2017

1 reference

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Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

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

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Genetic analysis of the cytoplasmic dynein subunit families

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells

18 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

18 April 2017

https://api.crossref.org/works/10.1038%2FNCOMMS8074

Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Protein particles in Chlamydomonas flagella undergo a transport cycle consisting of four phases

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The Tctex1/Tctex2 class of dynein light chains. Dimerization, differential expression, and interaction with the LC8 protein family

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT)

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The primary cilium: a signalling centre during vertebrate development

18 April 2017

1 reference

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When cilia go bad: cilia defects and ciliopathies

18 April 2017

1 reference

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18 April 2017

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

18 April 2017

1 reference

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Proteomic analysis of a eukaryotic cilium

18 April 2017

1 reference

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Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

18 April 2017

1 reference

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Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish.

18 April 2017

1 reference

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The role of retrograde intraflagellar transport in flagellar assembly, maintenance, and function

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Ciliary disorder of the skeleton

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

A unified taxonomy for ciliary dyneins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

A systems-biology approach to understanding the ciliopathy disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Zebrafish ift57, ift88, and ift172 intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Hypoxia regulates assembly of cilia in suppressors of Tetrahymena lacking an intraflagellar transport subunit gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The Vfl1 Protein in Chlamydomonas localizes in a rotationally asymmetric pattern at the distal ends of the basal bodies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

PF16 encodes a protein with armadillo repeats and localizes to a single microtubule of the central apparatus in Chlamydomonas flagella

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein isa WD-repeat protein required for arm assembly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Chlamydomonas flagella. I. Isolation and electrophoretic analysis of microtubules, matrix, membranes, and mastigonemes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Cytochrome f and plastocyanin: their sequence in the photosynthetic electron transport chain of Chlamydomonas reinhardi

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4468853

Out with the old, in with the new: reassessing morpholino knockdowns in light of genome editing technology.

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

A novel Tctex2-related light chain is required for stability of inner dynein arm I1 and motor function in the Chlamydomonas flagellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

An engineered Streptomyces hygroscopicus aph 7" gene mediates dominant resistance against hygromycin B in Chlamydomonas reinhardtii.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8074

Nutritional studies with Chlamydomonas reinhardi

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26044572

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26044572

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS8074

1 reference

Dimensions Publication ID

26 June 2017

0 references

0 references

0 references

1004762518

0 references

Google Scholar paper ID

10163978906405457678

0 references

Microsoft Academic ID

1768673001

0 references

OpenCitations bibliographic resource ID

4806728

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference