Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia (Q37217054)

19 August 2017

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia (English)

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Coiled-coil domain containing 65

19 August 2017

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Cilia and flagella associated protein 298

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cilium assembly

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Coiled-coil domain containing 65

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Cilia and flagella associated protein 161

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Cilia and flagella associated protein 298

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primary ciliary dyskinesia

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24

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19 August 2017

13

Eileen O'Toole

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Christina Austin-Tse

Christina Austin-Tse

1

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Daniela A Braun

Daniela A Braun

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Sharon D. Dell

Sharon D Dell

34

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Katrina A Diaz

Katrina A Diaz

17

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Heon Yung Gee

Heon Yung Gee

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Heymut Omran

38

Heymut Omran

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19 August 2017

3

Maimoona A Zariwala

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Toby W Hurd

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Jan Halbritter

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Moumita Chaki

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Rannar Airik

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Iain A Drummond

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Markus Schueler

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Jonathan D Porath

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Niki T Loges

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Margaret Rosenfeld

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Svjetlana Lovric

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Daw-Yang Hwang

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Thomas W Ferkol

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Scott D Sagel

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Kenneth N Olivier

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19 August 2017

Renée M Gilberti

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19 August 2017

Nathan Hellman

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Narendra Pathak

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19 August 2017

Yan Liu

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19 August 2017

Jennifer R Panizzi

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Ramila S Patel-King

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Douglas Tritschler

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Raqual Bower

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Stefan Kohl

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Margaret W Leigh

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Peadar G Noone

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Johnny L Carson

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Stephanie D Davis

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Jessica E Pittman

29

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Jeffry J Atkinson

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Carlos E Milla

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Mary E Porter

39

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Stephen M King

40

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Michael R Knowles

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Friedhelm Hildebrandt

43

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19 August 2017

language of work or name

English

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publication date

1 October 2013

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19 August 2017

15

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American Journal of Human Genetics

inferred from page(s)

published in

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19 August 2017

93

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19 August 2017

4

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19 August 2017

672-686

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describes a project that uses

19 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3791264/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

6 September 2017

1 reference

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Association of Lis1 with outer arm dynein is modulated in response to alterations in flagellar motility

6 September 2017

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Phytozome: a comparative platform for green plant genomics

6 September 2017

1 reference

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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

6 September 2017

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The emerging genetics of primary ciliary dyskinesia

6 September 2017

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Ultrastructure of cilia and flagella - back to the future!

6 September 2017

1 reference

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

6 September 2017

1 reference

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

6 September 2017

1 reference

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Tubulin tyrosine ligase-like genes ttll3 and ttll6 maintain zebrafish cilia structure and motility

6 September 2017

1 reference

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NEK1 mutations cause short-rib polydactyly syndrome type majewski

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Ciliopathies: an expanding disease spectrum

6 September 2017

1 reference

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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

6 September 2017

1 reference

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The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch

6 September 2017

1 reference

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An outer arm Dynein conformational switch is required for metachronal synchrony of motile cilia in planaria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Foxj1 transcription factors are master regulators of the motile ciliogenic program

6 September 2017

1 reference

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ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The tektin family of microtubule-stabilizing proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs

6 September 2017

1 reference

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SmedGD: the Schmidtea mediterranea genome database

6 September 2017

1 reference

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The proteome of the mouse photoreceptor sensory cilium complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Proteomic analysis of a eukaryotic cilium

6 September 2017

1 reference

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TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

A tektin homologue is decreased in chlamydomonas mutants lacking an axonemal inner-arm dynein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Proteomic characterization of the human centrosome by protein correlation profiling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Ingestion of bacterially expressed double-stranded RNA inhibits gene expression in planarians.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

To beat or not to beat: roles of cilia in development and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

A proteomic analysis of human cilia: identification of novel components

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Specific interference by ingested dsRNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The dynein gene family in Chlamydomonas reinhardtii

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Chlamydomonas flagella. I. Isolation and electrophoretic analysis of microtubules, matrix, membranes, and mastigonemes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Molecular cloning and sequence analysis of the Chlamydomonas gene coding for radial spoke protein 3: flagellar mutation pf-14 is an ochre allele

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

The inner dynein arms I2 interact with a "dynein regulatory complex" in Chlamydomonas flagella

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Site-directed mutagenesis using a rapid PCR-based method

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Schmidtea mediterranea: a model system for analysis of motile cilia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Transgenesis in zebrafish with the tol2 transposon system.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Primary cilia and signaling pathways in mammalian development, health and disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

New functions for a vertebrate Rho guanine nucleotide exchange factor in ciliated epithelia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Flagellar motility is required for the viability of the bloodstream trypanosome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Analysis of xbx genes in C. elegans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Primary ciliary dyskinesia: diagnostic and phenotypic features.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

A Streptomyces rimosus aphVIII gene coding for a new type phosphotransferase provides stable antibiotic resistance to Chlamydomonas reinhardtii.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Computer-assisted analysis of flagellar structure.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791264

Autoregulation of beat frequency in respiratory ciliated cells. Demonstration by viscous loading

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24094744

12 December 2020

inferred from PubMed ID database lookup

Isolation of two species of Chlamydomonas reinhardtii flagellar mutants, ida5 and ida6, that lack a newly identified heavy chain of the inner dynein arm

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24094744

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.08.015

1 reference

19 August 2017

1 reference

19 August 2017

1 reference