Evidence map›Paper›PMID 31560140›Full record

ArticleCell proliferation2019

Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.

Ying Yuan, Li Yang, Ting Liu, Hong Zhang, Qiong Lu

Open access · goldAbstract read
In one paragraph

Article in Cell proliferation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

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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

5 authors at 2 institutions in 1 country.

Ying YuanInstitute of Endocrinology and Metabolism, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Li YangDepartment of Endocrinology, Hunan Provincial People's Hospital, Changsha, Hunan, China.
Ting LiuInstitute of Endocrinology and Metabolism, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hong ZhangInstitute of Endocrinology and Metabolism, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qiong LuDepartment of Pharmacy, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID https://orcid.org/0000-0002-0126-4978
Central South University · CNHunan Provincial People's Hospital · CN

Funding

National Natural Science Foundation of China Grant NO. 81500686 and 81601230
6 · The paper itself

Abstract

objectivesOsteopetrosis is a rare inherited skeletal disease characterized by increased bone mineral density due to the loss of osteoclast function or differentiation potential. MATERIALS AND

methodsThe study involved a Chinese patient with osteopetrosis (the proband) and her immediate family members and 180 controls without osteopetrosis. Bone density of the femoral neck, lumbar spine and total body was measured using dual-energy x-ray absorptiometry. Osteoclast differentiation by the participants' peripheral blood mononuclear cells (PBMCs) was investigated using tartrate-resistant acid phosphatase (TRAP) staining. Osteoblast differentiation was examined with Alizarin Red S staining. Reverse transcription-quantitative PCR was used to amplify immunoglobulin superfamily member 23 (IGSF23), c-FOS and nuclear factor of activated T cells 1 (NFATC1).

resultsWe found a homozygous mutation (c.295C>T) in the IGSF23 gene in two osteopetrosis samples. The mutation led to the formation of a stop codon, causing loss of the immunoglobulin-like domain and the whole transmembrane domain. PBMCs from the proband (IGSF23

conclusionsIGSF23-mediated osteoclast differentiation of PBMCs may serve as a potential target in osteoporosis therapy.

Indexed as

Bone and BonesCell DifferentiationHumansImmunoglobulinsLeukocytes, MononuclearMembrane ProteinsMutationOsteoblastsOsteoclastsOsteopetrosisOsteoporosisProto-Oncogene Proteins c-fosFOS protein, humanIGSF3 protein, humanImmunoglobulinsMembrane ProteinsProto-Oncogene Proteins c-fosIGSF23mutationosteopetrosisperipheral blood mononuclear cells

Identifiers

PMID31560140
PMCPMC6869366
OpenAlexW2974966803

What OpenQuestion holds

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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.