Evidence map›Paper›PMID 34875027›Full record

ArticleBlood2022

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz and 7 more

Abstract read
In one paragraph

Article in Blood, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
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

11 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Review
  7. Promise of gene therapy for congenital neurologic disease due to GPI deficiency.Molecular therapy. Methods & clinical development · 2024
    Article
  8. Mechanisms controlling cellular and systemic iron homeostasis.Nature reviews. Molecular cell biology · 2024
    Review
  9. Review
  10. Review
  11. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Lena MuckenthalerDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
Oriana MarquesDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.ORCID 0000-0003-4670-2748
Silvia ColucciDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.ORCID 0000-0002-0816-9009
Joachim KunzDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
Piotr FabrowskiCancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas BastPediatric Epilepsy Centre, Diaconia Kork, Kehl-Kork, Germany.ORCID 0000-0001-8995-9792
Sandro AltamuraDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
Britta HöchsmannDepartment of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany.
Hubert SchrezenmeierDepartment of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany.ORCID 0000-0003-1222-6659
Monika LanglotzFlow Cytometry & FACS Core Facility, Centre of Molecular Biology, University of Heidelberg, Heidelberg, Germany.
Paulina Richter-PechanskaDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
Tobias RauschMolecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.ORCID 0000-0001-5773-5620
Nicole Hofmeister-MielkeLaboratory for Hematological Diagnostics, University Heidelberg, Heidelberg, Germany.
Nikolas GunkelCancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-8116-2690
Matthias W HentzeEMBL, Heidelberg, Germany.ORCID 0000-0002-4023-7876
Andreas E KulozikDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.ORCID 0000-0003-1953-0848
Martina U MuckenthalerDepartment of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MutationAdolescentChildHemochromatosisHumansMaleMembrane ProteinsNervous System DiseasesMembrane Proteinsphosphatidylinositol glycan-class A protein

Identifiers

PMID34875027
PMCPMC10652939

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.