DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects (Q24318839)

22 June 2017

title

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

1 reference

Dynein axonemal heavy chain 5

22 June 2017

main subject

1 reference

outer dynein arm assembly

GOA release 2020-03-11

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GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

inferred from title

author

Stilianos Antonarakis

10

1 reference

22 June 2017

Richard Reinhardt

19

0 references

Heike Olbrich

2

object named as

Heike Olbrich

1 reference

22 June 2017

20

Heymut Omran

1 reference

22 June 2017

4

Maimoona A Zariwala

1 reference

22 June 2017

16

Heiner Kuhl

1 reference

22 June 2017

Nada Hornef

1

1 reference

22 June 2017

Judit Horvath

3

1 reference

22 June 2017

Manfred Fliegauf

5

1 reference

22 June 2017

Niki Tomas Loges

6

1 reference

22 June 2017

Johannes Wildhaber

7

1 reference

22 June 2017

Peadar G Noone

8

1 reference

22 June 2017

Marcus Kennedy

9

1 reference

22 June 2017

Jean-Louis Blouin

11

1 reference

22 June 2017

Lucia Bartoloni

12

1 reference

22 June 2017

Thomas Nüsslein

13

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22 June 2017

Peter Ahrens

14

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22 June 2017

Matthias Griese

15

1 reference

22 June 2017

Ralf Sudbrak

17

1 reference

22 June 2017

Michael R Knowles

18

1 reference

22 June 2017

language of work or name

English

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publication date

20 April 2006

1 reference

American Journal of Respiratory and Critical Care Medicine

22 June 2017

published in

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22 June 2017

volume

174

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22 June 2017

issue

2

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22 June 2017

page(s)

120-126

1 reference

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

22 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

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=2662904

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=2662904

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

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=2662904

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=2662904

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=2662904

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

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=2662904

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

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=2662904

Lateralization defects and ciliary dyskinesia: lessons from algae

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Primary ciliary dyskinesia: age at diagnosis and symptom history

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Dynein motors of the Chlamydomonas flagellum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Fertility in men with primary ciliary dyskinesia presenting with respiratory infection

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

DYNEINS: molecular structure and cellular function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

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=2662904

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

30 May 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200601-084OC

Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200601-084OC

Sleep disordered breathing in an adult with cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200601-084OC

Primary ciliary dyskinesia: diagnosis and standards of care

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200601-084OC

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2662904

Misreading of RNA codewords induced by aminoglycoside antibiotics

29 November 2018

1 reference

12 December 2020

Male and female infertility problems in the immotile-cilia syndrome

1 reference

12 December 2020

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

1 reference

12 December 2020

Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture

1 reference

12 December 2020

10.1164/RCCM.200601-084OC

Identifiers

DOI

1 reference

22 June 2017

0 references

1 reference