Evidence map›Paper›PMID 32636268›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2020

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Hemanth Tummala, Amanda J Walne, Findlay Bewicke-Copley, Alicia Ellison, Nikolas Pontikos, Maria G Bridger, Ana Rio-Machin, Jasmin K Sidhu, Jun Wang, Henrik Hasle and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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 2 institutions in 2 countries.

Hemanth TummalaCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom; h.tummala@qmul.ac.uk.
Amanda J WalneCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.ORCID 0000-0001-7184-8808
Findlay Bewicke-CopleyCentre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Alicia EllisonCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.ORCID 0000-0002-8490-8512
Nikolas PontikosCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.
Maria G BridgerCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.ORCID 0000-0002-3309-490X
Ana Rio-MachinCentre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.ORCID 0000-0001-6733-9752
Jasmin K SidhuCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.
Jun WangCentre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Henrik HasleDepartment of Pediatrics, Aarhus University Hospital, 8200 Aarhus, Denmark.
Jude FitzgibbonCentre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Tom VulliamyCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.
Inderjeet DokalCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.
Queen Mary University of London · GBAarhus University Hospital · DK

Funding

Medical Research Council MR/P018440/1
6 · The paper itself

Abstract

Inherited bone marrow failure (BMF) syndromes are a heterogeneous group of diseases characterized by defective hematopoiesis and often predisposing to myelodysplastic syndrome (MDS) and acute myelogenous leukemia. We have studied a large family consisting of several affected individuals with hematologic abnormalities, including one family member who died of acute leukemia. By whole-exome sequencing, we identified a novel frameshift variant in the ubiquitously expressed transcription factor specificity protein 1 (

Indexed as

Bone Marrow Failure DisordersFemaleFrameshift MutationHumansMalePedigreeSp1 Transcription FactorTranscription, GeneticTranscriptomeUp-RegulationZinc FingersSP1 protein, humanSp1 Transcription Factorbone marrow failureSp1transcription

Identifiers

PMID32636268
PMCPMC7382244
OpenAlexW3041386645

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.