Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome (Q29147434)

regulation of cilium assembly

GOA release 2020-03-11

1 reference

short rib – polydactyly syndrome

GOA release 2020-03-11

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1 reference

3

Ivan Duran

1 reference

4 April 2017

Tiago J. Dantas

2

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Ralph S. Lachman

5

object named as

Ralph S. Lachman

1 reference

4 April 2017

7

Stanley F. Nelson

1 reference

4 April 2017

S. Paige Taylor

1

1 reference

4 April 2017

Sulin Wu

4

1 reference

4 April 2017

University of Washington Center for Mendelian Genomics Consortium

6

1 reference

4 April 2017

Daniel H. Cohn

8

1 reference

4 April 2017

Richard B. Vallee

9

1 reference

4 April 2017

Deborah Krakow

describes a project that uses

10

1 reference

4 April 2017

language of work or name

English

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publication date

16 June 2015

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4 April 2017

Nature Communications

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4 April 2017

6

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4 April 2017

7092

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4 April 2017

ImageJ

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4470332/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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

6 April 2017

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

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

6 April 2017

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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

6 April 2017

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NEK1 mutations cause short-rib polydactyly syndrome type majewski

6 April 2017

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

6 April 2017

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

6 April 2017

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Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates

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6 April 2017

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6 April 2017

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6 April 2017

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6 April 2017

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7 April 2017

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3 June 2018

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3 June 2018

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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=4470332

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=4470332

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=4470332

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=4470332

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

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=4470332

Recruitment of dynein to late endosomes and lysosomes through light intermediate chains

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia 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=4470332

The role of the perichondrium in fetal bone development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

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=4470332

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=4470332

XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

Role of a class DHC1b dynein in retrograde transport of IFT motors and IFT raft particles along cilia, but not dendrites, in chemosensory neurons of living Caenorhabditis elegans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

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=4470332

Posttranslational glutamylation of alpha-tubulin

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470332

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

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8092

Analysis of xbx genes in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8092

Dynein-2 and ciliogenesis in Tetrahymena.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8092

The mineral dissolution function of osteoclasts is dispensable for hypertrophic cartilage degradation during long bone development and growth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8092

21 January 2018

Identifiers

DOI

10.1038/NCOMMS8092

1 reference

Dimensions Publication ID

3349170

ADS bibcode

2015NatCo...6.7092.

0 references

1030566043

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3349170

1 reference

1 reference

1 reference