Evidence map›Paper›PMID 17404618›Full record

ArticleThe Journal of clinical investigation2007

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.

Liesbeth Van Wesenbeeck, Paul R Odgren, Fraser P Coxon, Annalisa Frattini, Pierre Moens, Bram Perdu, Carole A MacKay, Els Van Hul, Jean-Pierre Timmermans, Filip Vanhoenacker and 7 more

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.

0numbers the graph read from it
0cells of the map it votes in
96citing papers in PubMed
6.6field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

96 citing papers in PubMed, 231 citations in OpenAlex.

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  13. Genetic and Immunohistochemistry Tools to Visualize Rat Macrophages In Situ.Methods in molecular biology (Clifton, N.J.) · 2024
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36 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 4 countries.

Liesbeth Van WesenbeeckDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Paul R Odgren
Fraser P Coxon
Annalisa Frattini
Pierre Moens
Bram Perdu
Carole A MacKay
Els Van Hul
Jean-Pierre Timmermans
Filip Vanhoenacker
Ruben Jacobs
Barbara Peruzzi
Anna Teti
Miep H Helfrich
Michael J Rogers
Anna Villa
Wim Van Hul
University of Antwerp · BEUniversity of Aberdeen · GBKU Leuven · BEUniversity of L'Aquila · ITUniversity of Massachusetts Chan Medical School · USIRCCS Ospedale San Raffaele · IT

Funding

TOOTH ERUPTION AND BONE RESORPTIONR01DE007444 · NIDCR · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI ODGREN, PAUL R · 1986 to 2012
$4.8M
BONE MATRIX AND BONE RESORPTIONR37DE007444 · NIDCR · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI MARKS, SANDY C · 1992 to 2001
$739k
Chief Scientist Office CZB/4/495NIDCR NIH HHS DE07444Telethon GGP06019
6 · The paper itself

Abstract

This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis. Electron and confocal microscopic analysis demonstrated that monocytes from a patient homozygous for the mutation differentiated into osteoclasts normally, but when cultured on dentine discs, the osteoclasts failed to form ruffled borders and showed little evidence of bone resorption. The presence of both RUN and pleckstrin homology domains suggests that Plekhm1 may be linked to small GTPase signaling. We found that Plekhm1 colocalized with Rab7 to late endosomal/lysosomal vesicles in HEK293 and osteoclast-like cells, an effect that was dependent on the prenylation of Rab7. In conclusion, we believe PLEKHM1 to be a novel gene implicated in the development of osteopetrosis, with a putative critical function in vesicular transport in the osteoclast.

Indexed as

Chromosomes, Human, Pair 10Adaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAnimalsAutophagy-Related ProteinsChromosome MappingFemaleGene Expression RegulationHumansKidneyMaleMembrane GlycoproteinsMonocytesMutationOrgan SpecificityOsteopetrosisAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAutophagy-Related ProteinsMembrane GlycoproteinsPLEKHM1 protein, humanrab7 GTP-Binding Proteinsrab7 GTP-binding proteins, humanrab7 GTP-binding proteins, ratrab GTP-Binding Proteins

Identifiers

PMID17404618
PMCPMC1838941
OpenAlexW2092837998

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.