(Q24306705)

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

20

0 references

Emily H Turner

Emily H Turner

16

0 references

Carlos Milla

Carlos E Milla

14

0 references

Sharon D. Dell

Sharon D Dell

10

0 references

Maimoona A Zariwala

21

Maimoona A Zariwala

0 references

Deborah A Nickerson

19

Deborah A Nickerson

0 references

Michael J Bamshad

18

Michael J Bamshad

0 references

Thomas W Ferkol

11

Thomas W Ferkol

0 references

Scott D Sagel

13

Scott D Sagel

0 references

Kenneth N Olivier

15

Kenneth N Olivier

0 references

Lawrence E Ostrowski

3

Lawrence E Ostrowski

0 references

Milan J Hazucha

6

Milan J Hazucha

0 references

Weining Yin

7

Weining Yin

0 references

Margaret Rosenfeld

12

Margaret Rosenfeld

0 references

Jonathan S Berg

8

Jonathan S Berg

0 references

author name string

Michael R Knowles

1

0 references

Margaret W Leigh

2

0 references

Lu Huang

4

0 references

Johnny L Carson

5

0 references

Stephanie D Davis

9

0 references

Alexandra P Lewis

American Journal of Human Genetics

17

0 references

language of work or name

English

0 references

publication date

10 January 2013

0 references

published in

0 references

volume

92

0 references

issue

1

0 references

page(s)

99-106

0 references

cites work

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

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=3542458

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=3542458

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=3542458

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=3542458

The challenges of diagnosing 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=3542458

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Disease gene characterization through large-scale co-expression analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Primary ciliary dyskinesia: current state of the art.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Celsius: a community resource for Affymetrix microarray data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Genetic defects in ciliary structure and 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=3542458

Primary ciliary dyskinesia: a review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Ciliary beat pattern is associated with specific ultrastructural defects in 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=3542458

A proteomic analysis of human cilia: identification of novel components

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

The outer dynein arm-docking complex: composition and characterization of a subunit (oda1) necessary for outer arm assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

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=3542458

Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Well-differentiated human airway epithelial cell cultures.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Primary ciliary dyskinesia: diagnostic and phenotypic features.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Computer-assisted analysis helps detect inner dynein arm abnormalities.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542458

Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23261302

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mucociliary differentiation of serially passaged normal human tracheobronchial epithelial cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23261302