The emerging genetics of primary ciliary dyskinesia (Q35532199)

8 August 2017

1 reference

title

The emerging genetics of primary ciliary dyskinesia (English)

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primary ciliary dyskinesia

8 August 2017

1 reference

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2

Heymut Omran

1 reference

8 August 2017

1

Maimoona A Zariwala

1 reference

8 August 2017

Thomas W Ferkol

3

1 reference

8 August 2017

1 September 2011

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Proceedings of the American Thoracic Society

8 August 2017

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8 August 2017

8

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8 August 2017

430-433

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8 August 2017

5

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

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Primary ciliary dyskinesia in Amish communities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Sequencing technologies - the next generation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

The Chlamydomonas genome reveals the evolution of key animal and plant functions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Primary ciliary dyskinesia: current state of the art.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Genetic defects in ciliary structure and function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Mutations in the "dynein regulatory complex" alter the ATP-insensitive binding sites for inner arm dyneins in Chlamydomonas axonemes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Massively parallel sequencing and rare disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

High prevalence of primary ciliary dyskinesia in a British Asian population

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209577

Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21926394

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Suppressor mutations in Chlamydomonas reveal a regulatory mechanism for Flagellar function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21926394

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1513/PATS.201103-023SD

1 reference

8 August 2017

1 reference

8 August 2017

1 reference

PubMed ID

21926394