HEATR2 plays a conserved role in assembly of the ciliary motile apparatus (Q24304187)

Dynein, axonemal assembly factor 5

GOA release 2020-03-11

1 reference

HEAT repeat containing 2 Dmel_CG31320

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Eamonn Sheridan

22

0 references

Alex von Kriegsheim

17

Alex von Kriegsheim

0 references

Pleasantine Mill

24

Pleasantine Mill

0 references

David T. Bonthron

12

David T Bonthron

0 references

Ian M. Carr

13

Ian M Carr

0 references

Alexander Markham

15

Alexander F Markham

0 references

Christine Diggle

1

Christine P Diggle

0 references

Miriam Schmidts

Miriam Schmidts

6

0 references

Amelia Shoemark

Amelia Shoemark

7

0 references

Ian J. Jackson

Ian J Jackson

19

0 references

Philippe Gautier

10

Philippe Gautier

0 references

Andrew P Jarman

Andrew P Jarman

23

1 reference

ORCID Public Data File 2021

Benedicte Durand

Bénédicte Durand

20

0 references

author name string

Daniel J Moore

2

0 references

Girish Mali

3

0 references

Petra zur Lage

4

0 references

Aouatef Ait-Lounis

5

0 references

Amaya Garcia Munoz

8

0 references

Mihail R Halachev

9

0 references

Patricia L Yeyati

11

0 references

Bruce Hayward

14

0 references

Jilly E Hope

16

0 references

Hannah M Mitchison

18

0 references

Walter Reith

full work available at URL

21

0 references

language of work or name

English

0 references

publication date

September 2014

0 references

http://eprints.whiterose.ac.uk/89194/

content deliverer

White Rose Research Online

object has role

published version

copyright license

Creative Commons Attribution

0 references

https://doi.org/10.1371/journal.pgen.1004577

copyright license

Creative Commons Attribution

0 references

0 references

10

0 references

issue

9

0 references

page(s)

e1004577

0 references

copyright license

Creative Commons Attribution 4.0 International

start time

18 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageQuant

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4168999/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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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

19 March 2017

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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

19 March 2017

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19 March 2017

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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

19 March 2017

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

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

19 March 2017

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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

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

19 March 2017

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

19 March 2017

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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

19 March 2017

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

19 March 2017

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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

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The Chlorella variabilis NC64A genome reveals adaptation to photosymbiosis, coevolution with viruses, and cryptic sex

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The transcription factor Rfx3 regulates beta-cell differentiation, function, and glucokinase expression

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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The evolution of eukaryotic cilia and flagella as motile and sensory organelles

19 March 2017

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

19 March 2017

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Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

19 March 2017

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Role for RFX transcription factors in non-neuronal cell-specific inactivation of the microtubule-associated protein MAP1A promoter

19 March 2017

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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

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

19 March 2017

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

19 March 2017

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The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo

19 March 2017

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RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins

19 March 2017

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19 March 2017

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CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia

19 March 2017

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LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects

19 March 2017

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Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1

19 March 2017

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Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice

19 March 2017

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Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random 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=4168999

MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

A modular toolset for recombination transgenesis and neurogenetic analysis of Drosophila

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

The mouse homeobox gene Noto regulates node morphogenesis, notochordal ciliogenesis, and left right patterning

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease 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=4168999

An Unusual Hydrophobic Core Confers Extreme Flexibility to HEAT Repeat 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=4168999

Diversity and complexity in DNA recognition by transcription factors

6 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

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=4168999

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Coordinated genomic control of ciliogenesis and cell movement by RFX2.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Picking up speed: advances in the genetics 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=4168999

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing 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=4168999

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Myb promotes centriole amplification and later steps of the multiciliogenesis program.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

DNA-binding specificity changes in the evolution of forkhead transcription factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

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=4168999

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

A unified taxonomy for ciliary dyneins

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

The emerging genetics of primary ciliary dyskinesia

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

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=4168999

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Transcriptional control of genes involved in ciliogenesis: a first step in making 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=4168999

Primary ciliary dyskinesia: improving the diagnostic approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Foxj1 transcription factors are master regulators of the motile ciliogenic program

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Lung development and repair: contribution of the ciliated lineage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Proteomic analysis of isolated chlamydomonas centrioles reveals 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=4168999

Temporal and spatial distribution of ciliogenesis in the tracheobronchial airways of mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Role of f-box factor foxj1 in differentiation of ciliated airway epithelial 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=4168999

A proteomic analysis of human cilia: identification of novel components

27 September 2017

1 reference

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CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Forkhead transcription factor HFH-4 expression is temporally related to ciliogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

A consensus motif in the RFX DNA binding domain and binding domain mutants with altered specificity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

DNA recognition site analysis of Xenopus winged helix proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Inferring relative proportions of DNA variants from sequencing electropherograms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Dyneins across eukaryotes: a comparative genomic analysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

Intraflagellar transport is required in Drosophila to differentiate sensory cilia but not sperm.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

Transducer-based force generation explains active process in Drosophila hearing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

Drosophila regulatory factor X is an embryonic type I sensory neuron marker also expressed in spermatids and in the brain of Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

Detecting polymorphisms and mutations in candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

Drosophila KAP interacts with the kinesin II motor subunit KLP64D to assemble chordotonal sensory cilia, but not sperm tails.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004577

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168999

10.1371/JOURNAL.PGEN.1004577

29 November 2018

Identifiers

DOI

1 reference

10.1371/JOURNAL.PGEN.1004577

2978206

Altmetric DOI

0 references

CORE ID

77001888

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Dimensions Publication ID

1013310396

0 references

2978206

1 reference

1 reference

1 reference