Evidence map›Paper›PMID 29898956›Full record

ArticleBlood2018

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Inga Hofmann, Mitchell J Geer, Timo Vögtle, Andrew Crispin, Dean R Campagna, Alastair Barr, Monica L Calicchio, Silke Heising, Johanna P van Geffen, Marijke J E Kuijpers and 15 more

Open access · bronzeAbstract read
In one paragraph

Article in Blood, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
4.6field-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

25 citing papers in PubMed, 54 citations in OpenAlex.

  1. Article
  2. A NovelTurkish journal of haematology : official journal of Turkish Society of Haematology · 2026
    Article
  3. Article
  4. Article
  5. Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. RareTurkish journal of haematology : official journal of Turkish Society of Haematology · 2022
    Article
  12. Review
  13. Review
  14. Article
  15. Leukemia research reports · 2022
    Article
  16. Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021
    Review
  17. Review
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 12 institutions in 6 countries.

Inga HofmannDivision of Hematology, Oncology, and Bone Marrow Transplantation, Department of Pediatrics, University of Wisconsin, Madison, WI.ORCID 0000-0001-6125-9655
Mitchell J GeerInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.ORCID 0000-0003-1457-987X
Timo VögtleInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
Andrew CrispinDepartment of Pathology, Boston Children's Hospital, Boston, MA.
Dean R CampagnaDepartment of Pathology, Boston Children's Hospital, Boston, MA.
Alastair BarrDepartment of Biomedical Science, University of Westminster, London, United Kingdom.ORCID 0000-0001-7738-8419
Monica L CalicchioDepartment of Pathology, Boston Children's Hospital, Boston, MA.
Silke HeisingInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
Johanna P van GeffenDepartment of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
Marijke J E KuijpersDepartment of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.ORCID 0000-0001-8987-6532
Johan W M HeemskerkDepartment of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
Johannes A EbleInstitute of Physiological Chemistry and Pathobiochemistry, University of Münster, Münster, Germany.
Klaus Schmitz-AbeDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
Esther A ObengDana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.
Michael DouglasInstitute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
Kathleen FresonDepartment of Cardiovascular Sciences, University of Leuven, Leuven, Belgium.ORCID 0000-0002-4381-2442
Corinne PondarréService de pédiatrie, Centre de référence de la Drépanocytose, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.
Rémi FavierAssistance Publique-Hôpitaux de Paris, A Trousseau children hospital, French reference centre for platelet disorders, Paris, France.ORCID 0000-0003-1850-6686
Gavin E JarvisDepartment of Physiology, Development and Neuroscience.ORCID 0000-0003-4362-1133
Kyriacos MarkianosDepartment of Pathology, Boston Children's Hospital, Boston, MA.ORCID 0000-0003-0214-6014
Ernest TurroDepartment of Haematology, and.ORCID 0000-0002-1820-6563
Willem H OuwehandWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.ORCID 0000-0002-7744-1790
Alexandra MazharianInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.ORCID 0000-0002-0204-3325
Mark D FlemingDepartment of Pathology, Boston Children's Hospital, Boston, MA.ORCID 0000-0003-0948-4024
Yotis A SenisInstitute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.ORCID 0000-0002-0947-9957
Boston Children's Hospital · USUniversity of Birmingham · GBMaastricht University · NLHarvard University · USInserm · FRInstitut Gustave Roussy · FRKU Leuven · BENational Health Service · GBNHS Blood and Transplant · GBUniversity of Cambridge · GBUniversity of Münster · DEUniversity of Westminster · GB

Funding

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
British Heart Foundation FS/13/1/29894British Heart Foundation FS/15/58/31784Medical Research Council GBT1564NIDDK NIH HHS R24 DK099808
6 · The paper itself

Abstract

Unlike primary myelofibrosis (PMF) in adults, myelofibrosis in children is rare. Congenital (inherited) forms of myelofibrosis (cMF) have been described, but the underlying genetic mechanisms remain elusive. Here we describe 4 families with autosomal recessive inherited macrothrombocytopenia with focal myelofibrosis due to germ line loss-of-function mutations in the megakaryocyte-specific immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptor G6b-B (

Indexed as

Loss of Function MutationAdolescentAdultAnimalsBlood PlateletsChildChild, PreschoolFemaleGene Knock-In TechniquesHumansInfantMaleMegakaryocytesMiceMice, Inbred C57BLMice, KnockoutMPIG6B protein, humanReceptors, Immunologic

Identifiers

PMID29898956
PMCPMC6161765
OpenAlexW2808534085

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.