(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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1 reference

Sandra Brunner

1

1 reference

25 January 2017

Dvora Colman

2

1 reference

25 January 2017

Alexander J. Travis

3

1 reference

25 January 2017

Ulrich F. O. Luhmann

4

1 reference

25 January 2017

Wei Shi

5

1 reference

25 January 2017

Silke Feil

6

1 reference

25 January 2017

Coni Imsand

7

1 reference

25 January 2017

Jacquelyn Nelson

8

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25 January 2017

Christian Grimm

9

1 reference

25 January 2017

Thomas Rülicke

10

1 reference

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

1 reference

25 January 2017

language of work or name

English

1 reference

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

Male infertility: role of genetic background

21 January 2018

1 reference

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

Mouse models of male infertility.

21 January 2018

1 reference

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

Knockout mouse models of sperm flagellum anomalies

21 January 2018

1 reference

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

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/10.1095%2FBIOLREPROD.107.067454

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/10.1095%2FBIOLREPROD.107.067454

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/10.1095%2FBIOLREPROD.107.067454

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

Intraflagellar transport

1 reference

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

21 January 2018

Intraflagellar Transport

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mutations in the RPGR gene cause X-linked cone dystrophy

21 January 2018

1 reference

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

X-linked recessive atrophic macular degeneration from RPGR mutation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

21 January 2018

1 reference

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

Genetic causes of bronchiectasis: primary ciliary dyskinesia

21 January 2018

1 reference

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

Abnormal axonemes in X-linked retinitis pigmentosa

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

Fibrous sheath of mammalian spermatozoa

21 January 2018

1 reference

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

The mammalian spermatozoon

21 January 2018

1 reference

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

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

A motility in the eukaryotic flagellum unrelated to flagellar beating

21 January 2018

1 reference

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

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

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

21 January 2018

1 reference

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

1 reference

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

When cilia go bad: cilia defects and ciliopathies

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

0 references

1 reference