(Q24321486)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

Radial spoke head component 1

8 March 2020

main subject

1 reference

GOA release 2020-03-11

axoneme assembly

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Jean François Papon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

André Coste

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Bruno Louis

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

16

Jocelyne Just

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Esther Kott

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Bruno Copin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Florence Dastot-Le Moal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Guy Montantin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Philippe Duquesnoy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

William Piterboth

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Daniel Amram

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Laurence Bassinet

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Julie Beucher

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Nicole Beydon

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Eric Deneuville

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Véronique Houdouin

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Hubert Journel

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Nadia Nathan

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Aline Tamalet

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Nathalie Collot

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Ludovic Jeanson

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Morgane Le Gouez

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Benoit Vallette

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Anne-Marie Vojtek

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Ralph Epaud

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Annick Clement

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Bruno Housset

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Estelle Escudier

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Serge Amselem

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

29 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

561-570

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

8 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause 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=3769924

Exome sequencing identifies mutations in CCDC114 as a cause 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=3769924

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause 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=3769924

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause 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=3769924

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=3769924

Mutations in axonemal dynein assembly factor DNAAF3 cause 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=3769924

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=3769924

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=3769924

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause 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=3769924

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to 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=3769924

Molecular evolution of the junctophilin gene family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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=3769924

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes 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=3769924

Radial spoke proteins of Chlamydomonas flagella

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

De novo formation of left-right asymmetry by posterior tilt of nodal cilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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=3769924

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=3769924

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=3769924

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Nonsense-mediated mRNA decay: terminating erroneous gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Reorganizing the protein space at the Universal Protein Resource (UniProt)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Overview of structure and function of mammalian cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Conserved structural motifs in the central pair complex of eukaryotic flagella.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

The CSC connects three major axonemal complexes involved in dynein regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Ciliary beat co-ordination by calcium.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Subunit interactions within the Chlamydomonas flagellar spokehead

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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=3769924

The radial spokes and central apparatus: mechano-chemical transducers that regulate flagellar motility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Molecular cloning and characterization of a radial spoke head protein of sea urchin sperm axonemes: involvement of the protein in the regulation of sperm motility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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=3769924

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=3769924

Flagellar mutants of Chlamydomonas : Studies of radial spoke-defective strains by dikaryon and revertant 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=3769924

Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Sequential assembly of flagellar radial spokes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Impairment of nitric oxide output of conducting airways in primary ciliary dyskinesia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

Central microtubular agenesis causing primary ciliary dyskinesia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769924

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23993197

12 December 2020

inferred from PubMed ID database lookup

Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23993197

12 December 2020

inferred from PubMed ID database lookup

Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23993197

12 December 2020

inferred from PubMed ID database lookup

Zur Pathogenese der Bronchiektasien

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.07.013

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.07.013

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993197%20AND%20SRC:MED&resulttype=core&format=json