Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (Q22010856)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

Dynein axonemal intermediate chain 1

2 November 2019

main subject

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

Chlamydomonas reinhardtii

inferred from title

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

1

G Pennarun

G

Pennarun

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Escudier E

2

E

Escudier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Chapelin C

3

C

Chapelin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Bridoux AM

4

A M

Bridoux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Cacheux V

5

V

Cacheux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Roger G

6

G

Roger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Clément A

7

A

Clément

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Goossens M

8

M

Goossens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Amselem S

9

S

Amselem

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Duriez B

10

B

Duriez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

1508-1519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein 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=1288361

Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain 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=1288361

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Multiple mouse chromosomal loci for dynein-based motility

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Characterization of a novel human dynein-related gene that is specifically expressed in testis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The neighbor-joining method: a new method for reconstructing phylogenetic trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The WD repeat: a common architecture for diverse functions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The ancient regulatory-protein family of WD-repeat proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Homology of the 74-kD cytoplasmic dynein subunit with a flagellar dynein polypeptide suggests an intracellular targeting function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Cytoplasmic dynein intermediate-chain isoforms with different targeting properties created by tissue-specific alternative splicing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the gamma-dynein heavy chain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Is outer arm dynein intermediate chain 1 multifunctional?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The dynein gene family in Chlamydomonas reinhardtii

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Identification of seven rat axonemal dynein heavy chain genes: expression during ciliated cell differentiation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Molecular analysis of the microtubule motor dynein

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

A Chlamydomonas outer arm dynein mutant with a truncated beta heavy chain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

A family of dynein genes in Drosophila melanogaster

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein isa WD-repeat protein required for arm assembly

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The 78,000-M(r) intermediate chain of Chlamydomonas outer arm dynein is a microtubule-binding protein

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The light chain p28 associates with a subset of inner dynein arm heavy chains in Chlamydomonas axonemes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Interspecies conservation of outer arm dynein intermediate chain sequences defines two intermediate chain subclasses

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

A Chlamydomonas outer arm dynein mutant missing the alpha heavy chain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Flagella in prokaryotes and lower eukaryotes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

A Human Syndrome Caused by Immotile Cilia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Axonemal dyneins: assembly, organization, and regulation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

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=1288361

The immotile-cilia syndrome: a microtubule-associated defect

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Four ATP-binding sites in the midregion of the β heavy chain of dynein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Multiple nucleotide-binding sites in the sequence of dynein β heavy chain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Dynein arms are oscillating force generators.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The dynein genes of Paramecium tetraurelia. Sequences adjacent to the catalytic P-loop identify cytoplasmic and axonemal heavy chain isoforms.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Identification and molecular evolution of new dynein-like protein sequences in rat brain.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

Molecular analysis of the gamma heavy chain of Chlamydomonas flagellar outer-arm dynein.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288361

The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome

29 November 2018

1 reference

12 December 2020

Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease

1 reference

12 December 2020

Genetic aspects of immotile cilia syndrome

1 reference

12 December 2020

1 reference

12 December 2020

The Mr 78,000 intermediate chain of Chlamydomonas outer arm dynein interacts with alpha-tubulin in situ

1 reference

12 December 2020

A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes

1 reference

12 December 2020

Identifiers

DOI

10.1086/302683

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577904%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference