Evidence map›Paper›PMID 28559357›Full record

ArticleBlood2017

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in

Aaron Seo, Miri Ben-Harosh, Mehtap Sirin, Jerry Stein, Orly Dgany, Joseph Kaplelushnik, Manfred Hoenig, Ulrich Pannicke, Myriam Lorenz, Klaus Schwarz and 13 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
4.3field-weighted citation impact, top 5% 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

24 citing papers in PubMed, 55 citations in OpenAlex.

  1. Article
  2. Journal of genetics · 2025
    Article
  3. Article
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  7. Review
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  14. Review
  15. Review
  16. Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.International journal of molecular sciences · 2021
    Review
  17. Tuning MPL signaling to influence hematopoietic stem cell differentiation and inhibit essential thrombocythemia progenitors.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  18. Review
  19. Article
  20. Aplastic Anemia.The New England journal of medicine · 2018
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors at 9 institutions in 3 countries.

Aaron SeoDepartment of Genome Sciences and.
Miri Ben-HaroshDepartment of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel.
Mehtap SirinDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Jerry SteinBone Marrow Transplant Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Orly DganySackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Joseph KaplelushnikDepartment of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel.
Manfred HoenigDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Ulrich PannickeInstitute for Transfusion Medicine, University Ulm, Ulm, Germany.
Myriam LorenzInstitute for Transfusion Medicine, University Ulm, Ulm, Germany.
Klaus SchwarzInstitute for Transfusion Medicine, University Ulm, Ulm, Germany.
Clemens StockklausnerDepartment of Pediatric Hematology and Oncology, Heidelberg University, Heidelberg, Germany.
Tom WalshDepartment of Genome Sciences and.
Suleyman GulsunerDepartment of Genome Sciences and.
Ming K LeeDepartment of Genome Sciences and.
Anoop SendamaraiDepartment of Pathology, Boston Children's Hospital, Boston, MA.
Marilyn Sanchez-BonillaDepartment of Pediatric Hematology/Oncology, Boston Children's Hospital/Dana-Farber Cancer Institute/Harvard Medical School, Boston, MA; and.
Mary-Claire KingDepartment of Genome Sciences and.
Holger CarioDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Andreas E KulozikDepartment of Pediatric Hematology and Oncology, Heidelberg University, Heidelberg, Germany.
Klaus-Michael DebatinDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Ansgar SchulzDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Hannah TamarySackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Akiko ShimamuraDepartment of Pediatric Hematology/Oncology, Boston Children's Hospital/Dana-Farber Cancer Institute/Harvard Medical School, Boston, MA; and.
University of Washington Medical Center · USHeidelberg University · DESchneider Children's Medical Center · ILSoroka Medical Center · ILBoston Children's Hospital · USBoston Children's Museum · USDana-Farber Cancer Institute · USGerman Red Cross · DETel Aviv University · IL

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Translational Studies of Inherited Marrow Failure and Myelodysplastic SyndromesR24DK099808 · NIDDK · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ABKOWITZ, JANIS L, EBERT, BENJAMIN LEVINE · 2013 to 2017
$8.2M
INTERDISCIPLINARY TRAINING IN DEVELOPMENTAL BIOLOGYT32HD007183 · NICHD · UNIVERSITY OF WASHINGTON · PI RAIBLE, DAVID W · 1985 to 2015
$5.7M
Identifying and Characterizing Novel Genes for Inherited Bone Marrow FailureF30DK103462 · NIDDK · UNIVERSITY OF WASHINGTON · PI SEO, AARON · 2016 to 2017
$88k
NICHD NIH HHS T32 HD007183NIDDK NIH HHS F30 DK103462NIDDK NIH HHS R24 DK099808NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

We report 5 individuals in 3 unrelated families with severe thrombocytopenia progressing to trilineage bone marrow failure (BMF). Four of the children received hematopoietic stem cell transplants and all showed poor graft function with persistent severe cytopenias even after repeated transplants with different donors. Exome and targeted sequencing identified mutations in the gene encoding thrombopoietin (

Indexed as

Bone Marrow TransplantationBase SequenceBone MarrowChildChild, PreschoolFemaleHEK293 CellsHumansInfantMaleMutationPedigreeReceptors, FcRecombinant Fusion ProteinsThrombopoietinTreatment OutcomeReceptors, FcRecombinant Fusion ProteinsromiplostimThrombopoietin

Identifiers

PMID28559357
PMCPMC5561901
OpenAlexW2619707122

What OpenQuestion holds

Textmetadata
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.