(Q48331130)

10 February 2018

title

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse (English)

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10 February 2018

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3

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10 February 2018

Moira O'Bryan

6

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10 February 2018

Paul J. Lockhart

7

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10 February 2018

Martin Delatycki

5

object named as

Martin B Delatycki

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10 February 2018

author name string

Gabrielle R Wilson

1

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10 February 2018

Hong X Wang

2

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10 February 2018

Philip J Robinson

4

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10 February 2018

publication date

27 January 2010

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10 February 2018

published in

Human Molecular Genetics

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10 February 2018

volume

19

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10 February 2018

issue

8

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10 February 2018

page(s)

1593-1602

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10 February 2018

Overview of structure and function of mammalian cilia

cites work

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

21 January 2018

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Genetic defects in ciliary structure and function

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Piecing together a ciliome

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Fish and frogs: models for vertebrate cilia signaling

21 January 2018

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It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

The Parkin co-regulated gene product, PACRG, is an evolutionarily conserved axonemal protein that functions in outer-doublet microtubule morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

The stumpy gene is required for mammalian ciliogenesis

21 January 2018

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Microtubules containing acetylated alpha-tubulin in mammalian cells in culture

21 January 2018

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Ablation of D1 dopamine receptor-expressing cells generates mice with seizures, dystonia, hyperactivity, and impaired oral behavior.

21 January 2018

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Pathogenesis of mucous cell metaplasia in a murine asthma model

21 January 2018

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Mutations in Hydin impair ciliary motility in mice

21 January 2018

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Axonemal localization of Chlamydomonas PACRG, a homologue of the human Parkin-coregulated gene product

21 January 2018

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Cerebral phospholipids in 'quaking' mice

21 January 2018

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Rescuing qkV dysmyelination by a single isoform of the selective RNA-binding protein QKI.

21 January 2018

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Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression

21 January 2018

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A contemporary definition and classification of hydrocephalus

21 January 2018

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

21 January 2018

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

21 January 2018

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A proteomic analysis of human cilia: identification of novel components

21 January 2018

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SCO-ping out the mechanisms underlying the etiology of hydrocephalus

21 January 2018

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

21 January 2018

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An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

Genetics of human hydrocephalus.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ031

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases

21 January 2018

1 reference

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FGFR-1 [corrected] signaling is involved in spermiogenesis and sperm capacitation

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ031

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10 February 2018

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10 February 2018