(Q24312391)

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Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

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scholarly article

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6 March 2020

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia (English)

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6 March 2020

Zinc finger MYND-type containing 10

1 reference

GOA release 2020-03-11

motile cilium assembly

1 reference

GOA release 2020-03-11

Zinc finger MYND-type containing 10 Dmel_CG11253

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

primary ciliary dyskinesia

1 reference

based on heuristic

inferred from title

Amelia Shoemark

3

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6 March 2020

Michael Simpson

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Miriam Schmidts

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Periklis Makrythanasis

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Federico A Santoni

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Nicholas D.E. Greene

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Claire Hogg

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Hannah M Mitchison

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Hannah M Mitchison

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Daniel J Moore

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6 March 2020

Alexandros Onoufriadis

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Petra I zur Lage

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Sandra C de Castro

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Lucia Bartoloni

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Teresa Didonna

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June K Marthin

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25 July 2013

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6 March 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases

1 reference

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19 March 2017

A map of human genome variation from population-scale sequencing

1 reference

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19 March 2017

Drosophila TRPN(=NOMPC) channel localizes to the distal end of mechanosensory cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Hearing in Drosophila requires TilB, a conserved protein associated with ciliary motility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

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

1 reference

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19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Towards a proteome-scale map of the human protein–protein interaction network

1 reference

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19 March 2017

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

19 March 2017

Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity

1 reference

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19 March 2017

Mediator-dependent nuclear receptor function

1 reference

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19 March 2017

A protein interaction map of Drosophila melanogaster

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19 March 2017

Paxillin LD motifs may define a new family of protein recognition domains

1 reference

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19 March 2017

Tissue expression patterns identify mouse cilia genes

1 reference

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19 March 2017

Determinants of coactivator LXXLL motif specificity in nuclear receptor transcriptional activation

1 reference

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19 March 2017

BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

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7 April 2017

When cilia go bad: cilia defects and ciliopathies

1 reference

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7 April 2017

The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes

1 reference

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27 September 2017

FlyBase: improvements to the bibliography

1 reference

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27 September 2017

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

1 reference

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27 September 2017

De novo mutations in MLL cause Wiedemann-Steiner syndrome

1 reference

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27 September 2017

Forkhead transcription factor Fd3F cooperates with Rfx to regulate a gene expression program for mechanosensory cilia specialization

1 reference

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27 September 2017

Drosophila Dynein intermediate chain gene, Dic61B, is required for spermatogenesis

1 reference

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27 September 2017

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

1 reference

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27 September 2017

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

1 reference

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27 September 2017

The gene regulatory cascade linking proneural specification with differentiation in Drosophila sensory neurons

1 reference

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27 September 2017

NOMPC, a member of the TRP channel family, localizes to the tubular body and distal cilium of Drosophila campaniform and chordotonal receptor cells

1 reference

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27 September 2017

Distinct epigenetic domains separated by a CTCF bound insulator between the tandem genes, BLU and RASSF1A

1 reference

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27 September 2017

Cildb: a knowledgebase for centrosomes and cilia.

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27 September 2017

Flagellar and ciliary beating: the proven and the possible

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27 September 2017

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

1 reference

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27 September 2017

Foxj1 transcription factors are master regulators of the motile ciliogenic program

1 reference

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27 September 2017

Primary ciliary dyskinesia: current state of the art.

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27 September 2017

Power gain exhibited by motile mechanosensory neurons in Drosophila ears

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27 September 2017

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

1 reference

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27 September 2017

Motion generation by Drosophila mechanosensory neurons

1 reference

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27 September 2017

Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.

1 reference

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27 September 2017

Studies of mechanosensation using the fly.

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27 September 2017

Genetics and pulmonary medicine. 6. Immotile cilia syndrome: past, present, and prospects for the future

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27 September 2017

FoxJ1-dependent gene expression is required for differentiation of radial glia into ependymal cells and a subset of astrocytes in the postnatal brain

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30 May 2018

The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos

1 reference

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30 May 2018

Axoneme beta-tubulin sequence determines attachment of outer dynein arms

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30 May 2018

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

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30 May 2018

Drosophila auditory organ genes and genetic hearing defects

1 reference

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29 November 2018

RPGR mutations might cause reduced orientation of respiratory cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

Transcriptional profiling of mucociliary differentiation in human airway epithelial cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

Flagellar motility is required for the viability of the bloodstream trypanosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

Drosophila regulatory factor X is necessary for ciliated sensory neuron differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

Genetically similar transduction mechanisms for touch and hearing in Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738835

29 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23891471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.07.009

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23891471%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23891471%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23891471%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

ResearchGate publication ID

0 references

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