Evidence map›Paper›PMID 35052464›Full record

ArticleGenes2022

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Dina Nadyrshina, Aliya Zaripova, Anton Tyurin, Ildar Minniakhmetov, Ekaterina Zakharova, Rita Khusainova

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

6 citing papers in PubMed, 15 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

6 authors at 4 institutions in 1 country.

Dina NadyrshinaInstitute of Biochemistry and Genetics-Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.
Aliya ZaripovaInstitute of Biochemistry and Genetics-Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.ORCID 0000-0001-6975-5151
Anton TyurinInternal Medicine Department, Bashkir State Medical University, 450008 Ufa, Russia.ORCID 0000-0002-0841-3024
Ildar MinniakhmetovInstitute of Biochemistry and Genetics-Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.
Ekaterina ZakharovaResearch Centre for Medical Genetics, 115478 Moscow, Russia.
Rita KhusainovaInstitute of Biochemistry and Genetics-Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.ORCID 0000-0002-8643-850X
Ufa Institute of Chemistry · RUBashkir State Medical University · RUBashkir State University · RUResearch Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in

Indexed as

MutationAdolescentAdultChildChild, PreschoolCollagen Type IFemaleGenetic Association StudiesHumansMaleMembrane GlycoproteinsMembrane ProteinsMiddle AgedOsteogenesis ImperfectaPhenotypeProlyl HydroxylasesCOL1A2 protein, humanCollagen Type IIFITM5 protein, humanMembrane GlycoproteinsMembrane ProteinsP3H1 protein, humanProlyl HydroxylasesProteoglycansI type of collagenmetabolic bone diseasenext-generation sequencing (NGS)

Identifiers

PMID35052464
PMCPMC8774438
OpenAlexW4205221717

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.