Evidence map›Paper›PMID 39684735›Full record

ArticleInternational journal of molecular sciences2024

Case Report: A Novel Homozygous Variant of the

Irina Zhargalovna Zhalsanova, Elizaveta Alekseevna Fonova, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Sofia Nikolaevna Gosudarkina, Anna Aleksandrovna Agafonova, Ekaterina Georgievna Ravzhaeva, Gulnara Narimanovna Seitova, Vadim Anatolyevich Stepanov, Nikolay Alekseevich Skryabin

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Irina Zhargalovna ZhalsanovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0001-6848-7749
Elizaveta Alekseevna FonovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0002-1338-5451
Nail Raushanovich ValiakhmetovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Nikita Aleksandrovich KolesnikovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0001-8855-577X
Sofia Nikolaevna GosudarkinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0009-0009-6823-9441
Anna Aleksandrovna AgafonovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Ekaterina Georgievna RavzhaevaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Gulnara Narimanovna SeitovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Vadim Anatolyevich StepanovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0002-5166-331X
Nikolay Alekseevich SkryabinResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0002-2491-3141

Funding

Federal Scientific-technical program for genetic technologies development for 2019-2027, agreement. 075-15-2021-1061, RF 193021X0029 075-15-2021-1061, RF 193021X0029
6 · The paper itself

Abstract

Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion. Genetic testing revealed a novel homozygous variant c.704T>C (p.Leu235Pro) in the

Indexed as

Cathepsin KHomozygotePycnodysostosisAdultFemaleHumansMutationCathepsin KCTSK protein, humanbone fragilityCTSKnext-generation sequencingpycnodysostosis

Identifiers

PMID39684735
PMCPMC11640908

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Registered trials

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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.