(Q24300196)

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

Correction for Duriez et al., A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

inferred from title

corrigendum / erratum

0 references

author name string

Bénédicte Duriez

1

0 references

Philippe Duquesnoy

2

0 references

Estelle Escudier

3

0 references

Anne-Marie Bridoux

4

0 references

Denise Escalier

5

0 references

Isabelle Rayet

6

0 references

Elisabeth Marcos

7

0 references

Anne-Marie Vojtek

8

0 references

Jean-François Bercher

9

0 references

Serge Amselem

Proceedings of the National Academy of Sciences of the United States of America

10

0 references

language of work or name

English

0 references

publication date

27 February 2007

0 references

published in

0 references

volume

104

0 references

page(s)

3336-41

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issue

9

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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=1805560

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl 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=1805560

Cloning and developmental analysis of murid spermatid-specific thioredoxin-2 (SPTRX-2), a novel sperm fibrous sheath protein and autoantigen

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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=1805560

Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of 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=1805560

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=1805560

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=1805560

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for 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=1805560

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=1805560

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=1805560

Positional cloning of the gene for X-linked retinitis pigmentosa 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

The Ciliopathies: An Emerging Class of Human Genetic Disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

The mammalian testis-specific thioredoxin system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Modulation of Chlamydomonas reinhardtii flagellar motility by redox poise.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Novel tools to unravel molecular mechanisms in cilia-related disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

27 September 2017

Cilia-related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

NDP kinase moves into developing primary 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=1805560

Identification and characterization of rod-derived cone viability factor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Flagellar radial spokes contain a Ca2+-stimulated nucleoside diphosphate kinase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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=1805560

Characterization of human thioredoxin-like 2. A novel microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

The human Nm23/nucleoside diphosphate kinases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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=1805560

Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role 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=1805560

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Primary ciliary dyskinesia (PCD).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Is outer arm dynein intermediate chain 1 multifunctional?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1805560

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=1805560

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=1805560

Zur Pathogenese der Bronchiektasien

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Abnormal central complex is a marker of severity in the presence of partial ciliary defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Redox-based control of the gamma heavy chain ATPase from Chlamydomonas outer arm dynein

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

A bipartite Ca2+-regulated nucleoside-diphosphate kinase system within the Chlamydomonas flagellum. The regulatory subunit p72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

Localization of candidate regions for a novel gene for Kartagener syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0611405104

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17360648

12 December 2020

inferred from PubMed ID database lookup

Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17360648

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0611405104

1 reference

1578736

ADS bibcode

2007PNAS..104.3336D

0 references

1578736

1 reference

1 reference

1 reference