(Q24306561)

24 June 2017

title

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms (English)

1 reference

Radial spoke head component 4A

24 June 2017

main subject

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Coiled-coil domain containing 39

1 reference

Coiled-coil domain containing 40

1 reference

motile cilium assembly

1 reference

dyskinesia

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primary ciliary dyskinesia

inferred from title

1 reference

13

Heike Olbrich

1 reference

24 June 2017

34

Heymut Omran

1 reference

24 June 2017

29

Richard D Emes

1 reference

24 June 2017

Claire Jackson

10

0 references

M Leigh Anne Daniels

M Leigh Anne Daniels

18

0 references

Amelia Shoemark

Amelia Shoemark

32

0 references

Miriam Schmidts

Miriam Schmidts

4

0 references

Jane S Lucas

Jane S Lucas

26

0 references

Peter J Scambler

Peter J Scambler

28

0 references

Maimoona A Zariwala

3

Maimoona A Zariwala

1 reference

ORCID Public Data File 2021

24 June 2017

1 reference

Margaret W Leigh

16

Margaret W Leigh

1 reference

24 June 2017

20

Thomas W Ferkol

1 reference

24 June 2017

33

Michael R Knowles

1 reference

24 June 2017

21

Scott D Sagel

1 reference

24 June 2017

22

Margaret Rosenfeld

1 reference

24 June 2017

27

Claire Hogg

1 reference

24 June 2017

35

Hannah M Mitchison

1 reference

24 June 2017

Dinu Antony

1

1 reference

24 June 2017

Anita Becker-Heck

2

1 reference

24 June 2017

Alexandros Onoufriadis

5

1 reference

24 June 2017

Mitra Forouhan

6

1 reference

24 June 2017

Robert Wilson

7

1 reference

24 June 2017

Theresa Taylor-Cox

8

1 reference

24 June 2017

Ann Dewar

9

1 reference

24 June 2017

Patricia Goggin

11

1 reference

24 June 2017

Niki T Loges

12

1 reference

24 June 2017

Martine Jaspers

14

1 reference

24 June 2017

Mark Jorissen

15

1 reference

24 June 2017

Whitney E Wolf

17

1 reference

24 June 2017

Peadar G Noone

19

1 reference

24 June 2017

Andrew Rutman

23

1 reference

24 June 2017

Abhijit Dixit

24

1 reference

24 June 2017

Christopher O'Callaghan

25

1 reference

24 June 2017

Eddie M K Chung

31

1 reference

24 June 2017

Uk10k

30

1 reference

24 June 2017

language of work or name

English

0 references

publication date

11 February 2013

1 reference

24 June 2017

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24 June 2017

volume

34

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24 June 2017

issue

3

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24 June 2017

page(s)

462-472

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Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

24 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

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=3630464

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes 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=3630464

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=3630464

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

SMART 7: recent updates to the protein domain annotation resource

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

CDD: a Conserved Domain Database for the functional annotation of 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=3630464

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

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=3630464

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=3630464

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=3630464

The human homolog of yeast BRE1 functions as a transcriptional coactivator through direct activator interactions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

dbSNP: the NCBI database of genetic variation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

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=3630464

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

When cilia go bad: cilia defects and ciliopathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of 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=3630464

Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Pharmacological interference with protein-protein interactions mediated by coiled-coil motifs.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Comparative genomics: prediction of the ciliary and basal body proteome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

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=3630464

Mutations in the "dynein regulatory complex" alter the ATP-insensitive binding sites for inner arm dyneins in Chlamydomonas axonemes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Nasal brushing for the study of ciliary ultrastructure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Cilia with defective radial spokes: a cause of human respiratory disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Heterogeneity of ciliary morphology in the immotile-cilia syndrome in man.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630464

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22261

Paircoil2: improved prediction of coiled coils from sequence.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22261

Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad

21 January 2018

1 reference

12 December 2020

Ultrastructure of bronchial epithelium in children with chronic or recurrent respiratory diseases

1 reference

12 December 2020

Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis

1 reference

12 December 2020

Phostensin caps to the pointed end of actin filaments and modulates actin dynamics

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22261

1 reference

OpenCitations bibliographic resource ID

24 June 2017

3253636

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3253636

1 reference