DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm (Q24308710)

Dynein axonemal heavy chain 9

1 reference

Dynein axonemal heavy chain 5

1 reference

Dynein axonemal intermediate chain 2

1 reference

outer dynein arm assembly

1 reference

primary ciliary dyskinesia

dyskinesia

1 reference

based on heuristic

inferred from title

1 reference

2

0 references

Heymut Omran

22

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Michał Witt

17

Michal Witt

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Ewa Zietkiewicz

18

Ewa Zietkiewicz

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Hannah Blau

14

Hannah Blau

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Katarzyna Voelkel

16

Katarzyna Voelkel

0 references

Niki Tomas Loges

1

Niki Tomas Loges

0 references

Manfred Fliegauf

6

Manfred Fliegauf

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Heiner Kuhl

7

Heiner Kuhl

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author name string

Lale Fenske

3

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Huda Mussaffi

4

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Judit Horvath

5

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Gyorgy Baktai

8

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Erzsebet Peterffy

9

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Rahul Chodhari

10

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Eddie M K Chung

11

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Andrew Rutman

12

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Christopher O'Callaghan

13

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Laszlo Tiszlavicz

15

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Juergen Neesen

19

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Richard Reinhardt

20

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Hannah M Mitchison

American Journal of Human Genetics

21

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language of work or name

English

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publication date

November 2008

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published in

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volume

83

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issue

5

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page(s)

547-58

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cites work

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

The nonsense-mediated decay RNA surveillance pathway

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

When cilia go bad: cilia defects and ciliopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Genetic defects in ciliary structure and function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

To beat or not to beat: roles of cilia in development and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Primary ciliary dyskinesia (PCD).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

A motile Chlamydomonas flagellar mutant that lacks outer dynein arms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

A Human Syndrome Caused by Immotile Cilia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668028

DNAI1 mutations explain only 2% of primary ciliary dykinesia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18950741

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Purification and polypeptide composition of dynein ATPases from chlamydomonas flagella

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18950741