Evidence map›Paper›PMID 35055070›Full record

ArticleInternational journal of molecular sciences2022

A

Magdalena Skalníková, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, Terézia Kurucová, Hana Svozilová, Jiří Štika and 9 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2022. 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
1.0field-weighted citation impact, top 24% 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

1 citing paper in PubMed, 7 citations in OpenAlex.

  1. Review
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

19 authors at 2 institutions in 1 country.

Magdalena SkalníkováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-6436-4888
Kateřina Staňo KozubíkCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0001-8260-2440
Jakub TrizuljakCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-8948-5387
Zuzana VrzalováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.
Lenka RadováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0001-8103-148X
Kamila RéblováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-6453-2386
Radka HolbováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.
Terézia KurucováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.
Hana SvozilováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-0025-4364
Jiří ŠtikaCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.
Ivona BlahákováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-5435-7043
Barbara DvořáčkováDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.
Marie PrudkováDepartment of Clinical Hematology, University Hospital Brno and Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.
Olga StehlíkováDepartment of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.
Michal ŠmídaCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-7335-3435
Leoš KřenDepartment of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.
Petr SmejkalDepartment of Clinical Hematology, University Hospital Brno and Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0003-4642-184X
Šárka PospíšilováCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0001-7136-2680
Michael DoubekCenter of Molecular Medicine, Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic.ORCID 0000-0002-1269-6282
Central European Institute of Technology · CZMasaryk University · CZ

Funding

European Regional Development Fund-Project "A-C-G-T" CZ.02.1.01/0.0/0.0/16_026/0008448Masaryk University MUNI/11/SUP/22/2020; MUNI/A/1595/2020MEYS CR LM2018127, LM2018132Ministry of Health of the Czech Republic NU20-08-00137
6 · The paper itself

Abstract

Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency of the GPIb-IX-V complex also known as the von Willebrand factor (VWF) receptor. We investigated a family with macrothrombocytopenia, a mild bleeding tendency, slightly lowered platelet aggregation tests, and suspected autosomal dominant (AD) inheritance. We have detected a heterozygous

Indexed as

AllelesGenetic Predisposition to DiseaseGenetic VariationPhenotypeBernard-Soulier SyndromeBlood PlateletsCzech RepublicDNA Mutational AnalysisFemaleGenetic Association StudiesHumansImmunophenotypingMalePedigreePlatelet CountPlatelet Glycoprotein GPIb-IX Complexadhesion receptorPlatelet Glycoprotein GPIb-IX Complexautosomal dominantBernard-Soulier syndromeGP1BAmacrothrombocytopeniamonoallelic

Identifiers

PMID35055070
PMCPMC8777725
OpenAlexW4206475168

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.