(Q28586510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Angeles Fernandez-Gonzalez

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Stella Kourembanas

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Todd A Wyatt

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

publication date

5 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Respiratory Cell and Molecular Biology

13 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

page(s)

305-313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

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

13 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Adenylate kinases 1 and 2 are part of the accessory structures in the mouse sperm flagellum

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

The Ciliopathies: An Emerging Class of Human Genetic Disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Genetic defects in ciliary structure and function

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Post-genomic views of a 'unique' metabolism in the eukaryotic flagellum.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Cpc1, a Chlamydomonas central pair protein with an adenylate kinase domain.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Protein targeting of an unusual, evolutionarily conserved adenylate kinase to a eukaryotic flagellum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Oda5p, a novel axonemal protein required for assembly of the outer dynein arm and an associated adenylate kinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Inhibition of airway remodeling in IL-5-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

All-digital image capture and whole-field analysis of ciliary beat frequency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Phosphotransfer networks and cellular energetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

A proteomic analysis of human cilia: identification of novel components

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Mucus clearance as a primary innate defense mechanism for mammalian airways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Killing the messenger: new insights into nonsense-mediated mRNA decay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

A Human Syndrome Caused by Immotile Cilia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Sequence and structure classification of kinases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Chlamydomonas reinhardtii: biological rationale for genomics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Longitudinal study of lung function in a cohort of primary ciliary dyskinesia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Activation of sea-urchin sperm motility is accompanied by an increase in the creatine kinase exchange flux

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Metabolite channeling: a phosphorylcreatine shuttle to mediate high energy phosphate transport between sperm mitochondrion and tail.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2645528

Primary ciliary dyskinesia: diagnosis and standards of care

3 June 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

Intracellular positioning of isoforms explains an unusually large adenylate kinase gene family in the parasite Trypanosoma brucei

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

Central microtubular agenesis causing primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

Mucociliary clearance from central airways in patients with excessive sputum production with and without primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1165%2FRCMB.2008-0102OC

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

21 January 2018

1 reference

12 December 2020

Flagellar mutants in man: On the heterogeneity of the immotile-cilia syndrome

1 reference

12 December 2020

Immotile cilia syndrome associated with polycystic kidney

1 reference

12 December 2020

Hydrocephalus in Kartagener's syndrome

1 reference

12 December 2020

[A case of immotile cilia syndrome accompanied by retinitis pigmentosa]

1 reference

12 December 2020

Identifiers

DOI

10.1165/RCMB.2008-0102OC

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18776131%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference