Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia (Q24306694)

22 June 2017

title

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia (English)

1 reference

Dynein axonemal assembly factor 3

22 June 2017

main subject

1 reference

axonemal dynein complex assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

10

Heike Olbrich

Heike

Olbrich

1 reference

22 June 2017

15

Heymut Omran

Heymut

Omran

1 reference

22 June 2017

Miriam Schmidts

2

Miriam

Schmidts

1 reference

19 October 2023

David R Mitchell

16

David R

Mitchell

1 reference

19 October 2023

8

Hannah Blau

Hannah

Blau

1 reference

22 June 2017

Hannah M Mitchison

1

Hannah M

Mitchison

1 reference

22 June 2017

Niki T Loges

3

Niki T

Loges

1 reference

22 June 2017

Judy Freshour

4

Judy

Freshour

1 reference

22 June 2017

Athina Dritsoula

5

Athina

Dritsoula

1 reference

22 June 2017

Rob A Hirst

6

Rob A

Hirst

1 reference

22 June 2017

Christopher O'Callaghan

7

Christopher

O'Callaghan

1 reference

22 June 2017

Maha Al Dabbagh

9

Maha

Al Dabbagh

1 reference

22 June 2017

Philip L Beales

11

Philip L

Beales

1 reference

22 June 2017

Toshiki Yagi

12

Toshiki

Yagi

1 reference

22 June 2017

Huda Mussaffi

13

Huda

Mussaffi

1 reference

22 June 2017

Eddie M K Chung

14

Eddie M K

Chung

1 reference

22 June 2017

language of work or name

English

0 references

publication date

4 March 2012

1 reference

22 June 2017

1 reference

22 June 2017

volume

44

1 reference

22 June 2017

issue

4

1 reference

22 June 2017

page(s)

381-9, S1-2

1 reference

describes a project that uses

22 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3315610/fullTextXML

inferred from PubMed Central ID database lookup

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

19 March 2017

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Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Lateralization defects and ciliary dyskinesia: lessons from algae

27 September 2017

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Functional diversity of axonemal dyneins as studied in Chlamydomonas mutants

27 September 2017

1 reference

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Primary ciliary dyskinesia: age at diagnosis and symptom history

27 September 2017

1 reference

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A locus for primary ciliary dyskinesia maps to chromosome 19q

27 September 2017

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Restricted expression of cardiac myosin genes reveals regulated aspects of heart tube assembly in zebrafish.

27 September 2017

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

27 September 2017

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The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits

27 September 2017

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

27 September 2017

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Flagellar elongation and shortening in Chlamydomonas. The use of cycloheximide and colchicine to study the synthesis and assembly of flagellar proteins

27 September 2017

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Characterization of monoclonal antibodies against Chlamydomonas flagellar dyneins by high-resolution protein blotting

27 September 2017

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Protein-protein interactions in the 18S ATPase of Chlamydomonas outer dynein arms

27 September 2017

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The proximal portion of Chlamydomonas flagella contains a distinct set of inner dynein arms

27 September 2017

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Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene

27 September 2017

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The inner dynein arms I2 interact with a "dynein regulatory complex" in Chlamydomonas flagella

27 September 2017

1 reference

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Paralyzed flagella mutants of Chlamydomonas reinhardtii. Defective for axonemal doublet microtubule arms

27 September 2017

1 reference

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Discrete PIH proteins function in the cytoplasmic preassembly of different subsets of axonemal dyneins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315610

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

30 May 2018

1 reference

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Functional reconstitution of Chlamydomonas outer dynein arms from alpha-beta and gamma subunits: requirement of a third factor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315610

Mutations at twelve independent loci result in absence of outer dynein arms in Chylamydomonas reinhardtii

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315610

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1106

Transcriptional profiling of mucociliary differentiation in human airway epithelial cells.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1106

Identification of dyneins that localize exclusively to the proximal portion of Chlamydomonas flagella.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1106

Sequence analysis of the Chlamydomonas alpha and beta dynein heavy chain genes

21 January 2018

1 reference

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Expression of zebrafish nk2.2 is influenced by sonic hedgehog/vertebrate hedgehog-1 and demarcates a zone of neuronal differentiation in the embryonic forebrain

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315610

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

29 November 2018

1 reference

12 December 2020

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

1 reference

12 December 2020

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation

1 reference

12 December 2020

Congenital heart disease in primary ciliary dyskinesia

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.1106

1 reference

Dimensions Publication ID

22 June 2017

1014360419

0 references

Fatcat ID

release_bxgdlm2vgvbcrmb3vr4yz4por4

0 references

OpenCitations bibliographic resource ID

3980725

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3980725

1 reference