Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly (Q28512704)

25 January 2017

title

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly (English)

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Retinitis pigmentosa GTPase regulator

25 January 2017

main subject

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GOA release 2020-03-11

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Sandra Brunner

1

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25 January 2017

Dvora Colman

2

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25 January 2017

Alexander J. Travis

3

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25 January 2017

Ulrich F. O. Luhmann

4

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25 January 2017

Wei Shi

5

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25 January 2017

Silke Feil

6

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25 January 2017

Coni Imsand

7

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25 January 2017

Jacquelyn Nelson

8

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25 January 2017

Christian Grimm

9

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25 January 2017

Thomas Rülicke

10

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25 January 2017

Reinald Fundele

11

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25 January 2017

John Neidhardt

12

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25 January 2017

Wolfgang Berger

13

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25 January 2017

language of work or name

English

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inferred from

Biology of Reproduction

publication date

1 October 2008

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25 January 2017

published in

Biology of Reproduction

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25 January 2017

volume

79

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25 January 2017

issue

4

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25 January 2017

page(s)

608–617

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Gene polymorphisms and male infertility--a meta-analysis and literature review

25 January 2017

cites work

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Male infertility: role of genetic background

21 January 2018

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Mouse models of male infertility.

21 January 2018

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Knockout mouse models of sperm flagellum anomalies

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

21 January 2018

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Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

21 January 2018

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

21 January 2018

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

21 January 2018

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Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

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Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

21 January 2018

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

21 January 2018

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

21 January 2018

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Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

21 January 2018

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21 January 2018

Intraflagellar transport

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21 January 2018

Intraflagellar Transport

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Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

21 January 2018

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Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

21 January 2018

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Mutations in the RPGR gene cause X-linked cone dystrophy

21 January 2018

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X-linked recessive atrophic macular degeneration from RPGR mutation

21 January 2018

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A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy

21 January 2018

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

21 January 2018

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

21 January 2018

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Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

21 January 2018

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Genetic causes of bronchiectasis: primary ciliary dyskinesia

21 January 2018

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Abnormal axonemes in X-linked retinitis pigmentosa

21 January 2018

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A method for the generation of YAC transgenic mice by pronuclear microinjection

21 January 2018

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Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

21 January 2018

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Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

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

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Fibrous sheath of mammalian spermatozoa

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

The mammalian spermatozoon

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences

21 January 2018

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Position independent expression and developmental regulation is directed by the β myosin heavy chain gene's 5′ upstream region in transgenic mice

21 January 2018

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New insights into the assembly of the periaxonemal structures in mammalian spermatozoa

21 January 2018

1 reference

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Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility.

21 January 2018

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Pregnancy from intracytoplasmic sperm injection of a sperm head and detached tail.

21 January 2018

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A motility in the eukaryotic flagellum unrelated to flagellar beating

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Intramanchette transport (IMT): managing the making of the spermatid head, centrosome, and tail

21 January 2018

1 reference

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IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

21 January 2018

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When cilia go bad: cilia defects and ciliopathies

21 January 2018

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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

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https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

Identification and characterization of a novel RPGR isoform in human retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1095%2FBIOLREPROD.107.067454

10.1095/BIOLREPROD.107.067454

21 January 2018

Identifiers

DOI

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1 reference