Evidence map›Paper›PMID 40225915›Full record

ArticleHuman mutation2024

The Missing Piece of the Puzzle: Unveiling the Role of

Artem Borovikov, Nailya Galeeva, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Kseniya Davydenko, Anna Orlova, Peter Sparber, Tatiana Markova, Maria Orlova and 32 more

Abstract read
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

42 authors.

Artem BorovikovResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-5871-8005
Nailya GaleevaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-6108-7283
Andrey MarakhonovResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-0972-5118
Aysylu MurtazinaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-7023-7378
Varvara KadnikovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-1245-4881
Kseniya DavydenkoResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-7620-9175
Anna OrlovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-8831-1844
Peter SparberResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-9160-0794
Tatiana MarkovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-2672-6294
Maria OrlovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-3743-094X
Darya OsipovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-5863-3543
Tatyana NagornovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-4527-4518
Natalia SemenovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-7041-045X
Olga LevchenkoResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-9465-4213
Alexandra FilatovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-5979-0727
Margarita SharovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-3148-6915
Peter VasiluevResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-8249-343X
Ilya KanivetsGenomed, Moscow, Russia.ORCID 0000-0001-5821-9783
Denis PyankovGenomed, Moscow, Russia.ORCID 0000-0003-2519-4908
Artem SharkovGenomed, Moscow, Russia.ORCID 0000-0002-0980-2638
Vasilisa UdalovaGenomed, Moscow, Russia.ORCID 0000-0003-3476-2225
Vladimir KenisThe Turner Scientific Research Institute for Children's Orthopedics, Saint Petersburg, Russia.ORCID 0000-0002-7651-8485
Natalia NikitinaState Healthcare Institution of Sverdlovsk Region "Clinical and Diagnostic Center "Mother's and Child Health Protection", Ekaterinburg, Russia.ORCID 0000-0002-2811-4718
Maria SuminaState Healthcare Institution of Sverdlovsk Region "Clinical and Diagnostic Center "Mother's and Child Health Protection", Ekaterinburg, Russia.ORCID 0000-0002-2883-4029
Konstantin ZherdevNational Medical Research Center of Children's Health, Moscow, Russia.ORCID 0000-0003-3698-6011
Aleksandr Petel'guzovNational Medical Research Center of Children's Health, Moscow, Russia.ORCID 0000-0002-6686-4042
Oleg ChelpachenkoNational Medical Research Center of Children's Health, Moscow, Russia.ORCID 0000-0002-0333-3105
Pavel ZubkovNational Medical Research Center of Children's Health, Moscow, Russia.ORCID 0000-0001-9408-8004
Ivan DanNational Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, Moscow, Russia.ORCID 0000-0001-7508-6185
Andrey SnetkovNational Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, Moscow, Russia.ORCID 0000-0002-2435-6920
Alexandra AkinshinaNational Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, Moscow, Russia.ORCID 0000-0002-7319-5350
Yury BuklemishevNational Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, Moscow, Russia.ORCID 0000-0002-0039-2118
Oxana RyzhkovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-1285-9093
Vyacheslav TabakovResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-0291-153X
Ekaterina ZakharovaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-5020-1180
Sergey KorostelevGenomed, Moscow, Russia.ORCID 0000-0002-3816-8031
Rena ZinchenkoResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-3586-3458
Mikhail SkoblovResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-7293-3438
Alexander PolyakovResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-0105-1833
Elena DadaliResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0001-5602-2805
Sergey KutsevResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0002-3133-8018
Olga ShchaginaResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-4905-1303

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (OCs) through imaging studies and physical examinations. However, cases with both OCs and enchondromas (ECs) may indicate the more rare condition metachondromatosis (MC), which is assumed to be distinct disease. Previous cohort studies of MO found heterozygous loss-of-function (LoF) variants only in the

Indexed as

Exostoses, Multiple HereditaryGenetic Predisposition to DiseaseProtein Tyrosine Phosphatase, Non-Receptor Type 11AdolescentAdultChildChild, PreschoolCohort StudiesDNA Copy Number VariationsExostosin 1Exostosin 2FemaleGenetic Association StudiesHumansMaleN-AcetylglucosaminyltransferasesExostosin 1Exostosin 2N-AcetylglucosaminyltransferasesProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, human

Identifiers

PMID40225915
PMCPMC11918999

What OpenQuestion holds

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Read underepoch 390

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.