Evidence map›Paper›PMID 33376940›Full record

ArticleTH open : companion journal to thrombosis and haemostasis2020

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense

Julia Körholz, Nadja Lucas, Franziska Boiti, Karina Althaus, Oliver Tiebel, Mingyan Fang, Reinhard Berner, Min Ae Lee-Kirsch, Ralf Knöfler

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PubMed Full text at PMC Publisher
In one paragraph

Article in TH open : companion journal to thrombosis and haemostasis, 2020. 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
0.1field-weighted citation impact, top 47% 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

0 citing papers in PubMed, 4 citations in OpenAlex.

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

9 authors at 4 institutions in 2 countries.

Julia KörholzDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Nadja LucasDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Franziska BoitiDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Karina AlthausInstitute for Transfusion Medicine, University Hospital Tübingen, University of Tübingen, Tübingen, Germany.
Oliver TiebelInstitute for Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Mingyan FangBGI-Shenzhen and China National GeneBank, Shenzhen, China.
Reinhard BernerDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Min Ae Lee-KirschDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Ralf KnöflerDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
TU Dresden · DEUniversity Hospital Carl Gustav Carus · DEChina National GeneBank · CNUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl releasing protein 2 (RasGRP2), also known as calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), underlie a recently described platelet signal transduction abnormality. Here we present the case of a consanguineous family originating from Afghanistan with two siblings affected by recurrent severe mucocutaneous bleedings. Platelet function testing demonstrated a marked reduction of aggregation induced by collagen and adenosine diphosphate. Whole exome sequencing revealed a novel homozygous nonsense

Indexed as

bleeding diathesisplatelet dysfunctionRASGRP2

Identifiers

PMID33376940
PMCPMC7762629
OpenAlexW3114153565

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.