(Q24308816)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

Radial spoke head component 4A

21 January 2020

main subject

1 reference

Radial spoke head component 9

1 reference

axoneme assembly

1 reference

Radial spoke head 9 homolog (Chlamydomonas)

1 reference

Radial spoke head component 9

1 reference

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Patricia Ybot-gonzalez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Richard Emes

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Stephen W Wilson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Amelia Shoemark

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Nicholas D.E. Greene

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Saul Purton

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

17

Claire Hogg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

24

Hannah M Mitchison

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Victoria H Castleman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Leila Romio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Rahul Chodhari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Sandra C P de Castro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Keith A Parker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Colin Wallis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Colin A Johnson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Rene J Herrera

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Andrew Rutman

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Mellisa Dixon

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Andrew Bush

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

R Mark Gardiner

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Orit Reish

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Christopher O'Callaghan

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Eddie M K Chung

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

5 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

197-209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

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

21 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=2668031

Congenital heart disease and other heterotaxic defects in a large cohort of patients with 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=2668031

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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=2668031

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=2668031

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=2668031

The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control 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=2668031

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Merlin--rapid analysis of dense genetic maps using sparse gene flow 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=2668031

Y-chromosome diversity characterizes the Gulf of Oman

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Comparative genomics of trypanosomatid parasitic protozoa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Proteomic analysis of a eukaryotic cilium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Primary ciliary dyskinesia: current state of the art.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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=2668031

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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=2668031

Ciliary beat pattern is associated with specific ultrastructural defects 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=2668031

A locus for primary ciliary dyskinesia maps to chromosome 19q

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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=2668031

A study of possible deleterious effects of consanguinity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Radial spokes of Chlamydomonas flagella: genetic analysis of assembly and 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=2668031

High-frequency nuclear transformation 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=2668031

Sequence analysis reveals homology between two proteins of the flagellar radial spoke

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Kartagener's syndrome and the syndrome of 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=2668031

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Sequences controlling transcription of the Chlamydomonas reinhardtii beta 2-tubulin gene after deflagellation and during the cell cycle

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Flagellar motility is required for the viability of the bloodstream trypanosome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Expression pattern of glypican-4 suggests multiple roles during mouse development.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

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=2668031

Faster multipoint linkage analysis using Fourier transforms.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668031

Immotile cilia syndrome associated with polycystic kidney

29 November 2018

1 reference

12 December 2020

Trans-splicing mutants of Chlamydomonas reinhardtii

1 reference

12 December 2020

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

1 reference

12 December 2020

The Chlamydomonas Sourcebook. A Comprehensive Guide to Biology and Laboratory Use. Elizabeth H. Harris. Academic Press, San Diego, CA, 1989. xiv, 780 pp., illus. $145

1 reference

12 December 2020

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

1 reference

12 December 2020

Innate pulmonary immunity: cilia

1 reference

12 December 2020

DNAI1 mutations explain only 2% of primary ciliary dykinesia

1 reference

12 December 2020

10.1016/J.AJHG.2009.01.011

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19200523%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

2 references