RPGR mutations might cause reduced orientation of respiratory cilia (Q44640058)

4 December 2017

title

RPGR mutations might cause reduced orientation of respiratory cilia (English)

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4 December 2017

Heike Olbrich

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4 December 2017

Heymut Omran

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4 December 2017

Michał Witt

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4 December 2017

Ewa Ziętkiewicz

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4 December 2017

Zuzanna Bukowy-Bieryllo

object named as

Zuzanna Bukowy-Bieryłło

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4 December 2017

Katarzyna Voelkel

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4 December 2017

Ewa Rutkiewicz

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4 December 2017

Niki Tomas Loges

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4 December 2017

Maciej Geremek

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4 December 2017

Manfred Fliegauf

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4 December 2017

Mariana Wittmer

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4 December 2017

Jonathan Rutland

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4 December 2017

Lucy Morgan

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4 December 2017

Andrzej Pogorzelski

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4 December 2017

James Martin

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4 December 2017

Eric Haan

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4 December 2017

Wolfgang Berger

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4 December 2017

publication date

6 August 2012

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4 December 2017

published in

Pediatric Pulmonology

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4 December 2017

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4 December 2017

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4 December 2017

page(s)

352-363

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https://api.crossref.org/works/10.1002%2FPPUL.22632

4 December 2017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

PCD and RP: X-linked inheritance of both disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Exhaled and nasal nitric oxide measurements: recommendations. The European Respiratory Society Task Force.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

All-digital image capture and whole-field analysis of ciliary beat frequency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

RPGR mutation analysis and disease: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

SNPs3D: candidate gene and SNP selection for association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Correlation of presentation and pathologic condition in primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Basal bodies platforms for building cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Planar cell polarity signaling: from fly development to human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

The role of RPGR in cilia formation and actin stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

Actin and microtubules drive differential aspects of planar cell polarity in multiciliated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22632

21 January 2018

Identifiers

DOI

10.1002/PPUL.22632

1 reference

4 December 2017

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