Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome (Q34609964)

3 August 2017

1 reference

title

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome (English)

1 reference

primary ciliary dyskinesia

3 August 2017

1 reference

1 reference

8

Maimoona A Zariwala

1 reference

3 August 2017

Margaret W Leigh

1

1 reference

3 August 2017

Jessica E Pittman

2

1 reference

3 August 2017

Johnny L Carson

3

1 reference

3 August 2017

Thomas W Ferkol

4

1 reference

3 August 2017

Sharon D Dell

5

1 reference

3 August 2017

Stephanie D Davis

6

1 reference

3 August 2017

Michael R Knowles

7

1 reference

3 August 2017

language of work or name

English

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publication date

1 July 2009

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3 August 2017

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3 August 2017

11

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3 August 2017

7

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3 August 2017

473-487

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181a53562

3 August 2017

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cites work

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mutations in Hydin impair ciliary motility in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

7 July 2018

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Diagnosis and treatment of asthma in childhood: a PRACTALL consensus report.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Function and dynamics of PKD2 in Chlamydomonas reinhardtii flagella

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

When cilia go bad: cilia defects and ciliopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Measurement of nasal nitric oxide

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Diagnosing primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia: current state of the art.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Hydin seek: finding a function in ciliary motility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia and newborn respiratory distress

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Genetic defects in ciliary structure and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Immunodeficiency in childhood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Overview of structure and function of mammalian cilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The Ciliopathies: An Emerging Class of Human Genetic Disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Novel tools to unravel molecular mechanisms in cilia-related disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Radial spoke proteins of Chlamydomonas flagella

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Deficiency of SPAG16L causes male infertility associated with impaired sperm motility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Cystic fibrosis since 1938.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Planar cell polarity and a potential role for a Wnt morphogen gradient in stereociliary bundle orientation in the mammalian inner ear.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Proteomic analysis of a eukaryotic cilium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Pediatric lung disease: from proteinases to pulmonary fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A physiological view of the primary cilium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Pediatric interstitial lung disease revisited

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Pulmonary complications of primary immunodeficiencies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Situs inversus, asymmetry, and twinning

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Gastroesophageal reflux disease: review of presenting symptoms, evaluation, management, and outcome in infants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Immunoglobulin kappa light chain gene rearrangement is impaired in mice deficient for DNA polymerase mu

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Isomerism of the right atrial appendages: clinical, anatomical, and microscopic study of a long-surviving case with asplenia and ciliary abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Lateralization defects and ciliary dyskinesia: lessons from algae

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The vertebrate primary cilium is a sensory organelle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Genetic mapping of an insertional hydrocephalus-inducing mutation allelic to hy3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A proteomic analysis of human cilia: identification of novel components

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia: age at diagnosis and symptom history

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mucus clearance as a primary innate defense mechanism for mammalian airways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Early pulmonary infection, inflammation, and clinical outcomes in infants with cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Genetic disorders of neonatal respiratory function.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Neonatal acute respiratory failure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Advances in managing chronic disease. Research, performance measurement, and quality improvement are key

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Nasal nitric oxide in man

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia in Newfoundland dogs.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Longitudinal study of lung function in a cohort of primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Function and structure of cilia in the fallopian tube of an infertile woman with Kartagener's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mucociliary clearance in the airways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Evaluation and management of gastroesophageal reflux and pulmonary disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Hospital care for adults with cystic fibrosis: an overview and comparison between special cystic fibrosis clinics and general clinics using a patient questionnaire

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Fertility in men with primary ciliary dyskinesia presenting with respiratory infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Morphometric aspects of ciliary distribution and ciliogenesis in human nasal epithelium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Hydrocephalus and primary ciliary dyskinesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Genetic and biochemical dissection of the eucaryotic flagellum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The ciliary necklace. A ciliary membrane specialization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Situs Inversus Totalis and Kartagener's Syndrome in a Japanese Population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Effects of metabolic inhibition on ion transport by dog bronchial epithelium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The propulsion of mucus by cilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Outer and inner dynein arms of cilia and flagella

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Mechanosensitive and beta-adrenergic control of the ciliary beat frequency of mammalian respiratory tract cells in culture

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Hydrocephalus, bronchiectasis, and ciliary aplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Effect of exercise on redistribution and clearance of inhaled particles from hamster lungs.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Phenotypic characterization of the transgenic mouse insertional mutation, legless

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Atypical basal bodies in the oviductal mucosa (ampulla) of gilts with primary ciliary dyskinesia (PCD).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Regulation of ciliary activity in the mammalian respiratory tract.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Random ciliary orientation. A cause of respiratory tract disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia in pigs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Ultrastructure of respiratory cilia of WIC-Hyd male rats. An animal model for human immotile cilia syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Synthesis of nitric oxide from L-arginine: a recently discovered pathway induced by cytokines with antitumour and antimicrobial activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

legless insertional mutation: morphological, molecular, and genetic characterization.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Primary ciliary dyskinesia in the dog

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Arrangement of inner dynein arms in wild-type and mutant flagella of Chlamydomonas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

A Human Syndrome Caused by Immotile Cilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Zur Pathogenese der Bronchiektasien

7 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Primary ciliary dyskinesia: diagnosis and standards of care

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

An infant with respiratory distress and failure to thrive.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Cilia propel the embryo in the right direction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Treatment of otitis media with effusion in children with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

High-resolution CT of patients with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Early lung disease in young children with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Heterotaxia, congenital heart disease, and primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Computer-assisted analysis helps detect inner dynein arm abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Nasal NO: normal values in children age 6 through to 17 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Surgical management of bronchiectasis: analysis and short-term results in 238 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Primary ciliary dyskinesia in a Staffordshire bull terrier

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

The prevalence of abnormal cilia in normal pediatric lungs

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3739704

Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome

26 October 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A53562

Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog

21 January 2018

1 reference

12 December 2020

DNAI1 mutations explain only 2% of primary ciliary dykinesia

1 reference

12 December 2020

Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome

1 reference

12 December 2020

Transposition of ciliary microtubules: another cause of impaired ciliary motility

1 reference

12 December 2020

Living-donor lobar lung transplantation for primary ciliary dyskinesia

1 reference

12 December 2020

Screening for ciliary dyskinesia - a spectrum of defects of motility and structure

1 reference

12 December 2020

Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia

1 reference

12 December 2020

Activation of chloride conductance induced by potassium in tracheal epithelium

1 reference

12 December 2020

The immotile cilia syndrome: radiological manifestations

1 reference

12 December 2020

Function and morphology of respiratory cilia in situs inversus

1 reference

12 December 2020

Modulation of airway epithelial cell ciliary beat frequency by nitric oxide

1 reference

12 December 2020

Male and female infertility problems in the immotile-cilia syndrome

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

Movement: the emerging genetics of primary ciliary dyskinesia

1 reference

12 December 2020

Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections

1 reference

12 December 2020

Regulation of ciliary beat frequency by the nitric oxide-cyclic guanosine monophosphate signaling pathway in rat airway epithelial cells

1 reference

12 December 2020

Regulation of ciliary beat frequency by both PKA and PKG in bovine airway epithelial cells

1 reference

12 December 2020

1 reference

12 December 2020

Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 1. Evidence for a structural deficit in the axoneme

1 reference

12 December 2020

1 reference

12 December 2020

Kartagener's syndrome in a Dachshund dog

1 reference

12 December 2020

Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children

1 reference

12 December 2020

Lung transplantation in Kartagener's syndrome

1 reference

12 December 2020

Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care

1 reference

12 December 2020

Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge

1 reference

12 December 2020

Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia

1 reference

12 December 2020

Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia?

1 reference

12 December 2020

10.1097/GIM.0B013E3181A53562

Identifiers

DOI

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference