Evidence map›Paper›PMID 36231035›Full record

ArticleCells2022

Novel

Kerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, Kathrin Groß, Friederike Häuser, Andreas Czwalinna, Josef Erkel, Nele Fritsch, Dana Marandiuc, Martin Schaller and 3 more

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

Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Advances in experimental medicine and biology · 2024
    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

13 authors at 4 institutions in 1 country.

Kerstin JurkCenter for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.ORCID 0000-0001-5313-4035
Anke AdenaeuerInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.ORCID 0000-0002-6237-9840
Stefanie SollfrankInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Kathrin GroßCenter for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Friederike HäuserInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Andreas CzwalinnaCoagulation Laboratory, MVZ Wagnerstibbe, Amedes-Group, 30159 Hanover, Germany.
Josef ErkelPediatric Department, St. Marienhospital, 49377 Vechta, Germany.
Nele FritschInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Dana MarandiucTransfusion Center, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Martin SchallerDepartment of Dermatology, University of Tübingen, 72076 Tübingen, Germany.
Karl J LacknerInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Heidi RossmannInstitute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.ORCID 0000-0002-7532-8540
Frauke BergmannCoagulation Laboratory, MVZ Wagnerstibbe, Amedes-Group, 30159 Hanover, Germany.
Johannes Gutenberg University Mainz · DEAmedes Genetics (Germany) · DEMarienhospital Stuttgart · DEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 are nearly unknown. In this study, a 36-year-old male index patient and his 4-year-old daughter suffered from moderate mucocutaneous bleeding diathesis since birth. Whole exome sequencing detected a novel hemizygous

Indexed as

AnemiaPlatelet Storage Pool DeficiencyAnion Exchange Protein 1, ErythrocyteGATA1 Transcription FactorHemorrhageHumansMalePhenotypeAnion Exchange Protein 1, ErythrocyteGATA1 protein, humanGATA1 Transcription FactorSLC4A1 protein, humananemiaGATA1inherited platelet disordersSLC4A1storage pool deficiencythrombocytopeniawhole exome sequencing

Identifiers

PMID36231035
PMCPMC9564339
OpenAlexW4297973490

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.