Evidence map›Paper›PMID 34946929›Full record

ArticleGenes2021

New Mutations in

Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J Kelleher, Sara Pelucchi and 8 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.9field-weighted citation impact, top 13% 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

3 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
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

18 authors at 8 institutions in 2 countries.

Gonzalo HernándezIron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.ORCID 0000-0002-3048-9607
Xenia Ferrer-CortèsIron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Veronica VenturiIron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Melina MusriBloodGenetics S.L., Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Martin Floor PilquilDepartment of Basic Sciences, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallès, Spain.
Pau Marc Muñoz TorresDepartment of Basic Sciences, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallès, Spain.
Ines Hernandez RodríguezHospital Germans Trias i Pujol, 08916 Badalona, Spain.
Maria Àngels Ruiz MínguezDepartment of Laboratory Medicine/Fundació Hospital de l'Esperit Sant, 08923 Santa Coloma de Gramenet, Spain.
Nicholas J KelleherHematologia Clinica, Institut Català d'Oncologia, 17007 Girona, Spain.
Sara PelucchiDepartment of Medicine and Surgery, University of Milano-Bicocca, 20126 Monza, Italy.ORCID 0000-0002-9902-9641
Alberto PipernoDepartment of Medicine and Surgery, University of Milano-Bicocca, 20126 Monza, Italy.
Esther Plensa AlbercaHematologia i Hemoteràpia, Consorci Sanitari del Maresme, Institut Català d'Oncologia, 08304 Mataró, Spain.
Georgina Gener RicósHematologia i Hemoteràpia, Consorci Sanitari del Maresme, Institut Català d'Oncologia, 08304 Mataró, Spain.
Eloi Cañamero GiróHematologia i Hemoteràpia, Consorci Sanitari del Maresme, Institut Català d'Oncologia, 08304 Mataró, Spain.
Santiago Pérez-MonteroBloodGenetics S.L., Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Cristian TornadorBloodGenetics S.L., Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Jordi Villà-FreixaDepartment of Basic Sciences, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallès, Spain.
Mayka SánchezIron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.ORCID 0000-0002-6499-5989
Universitat Internacional de Catalunya · ESMaresme Health Consortium · ESUniversitat de Vic - Universitat Central de Catalunya · ESAzienda Ospedaliera San Gerardo · ITHospital de l'Esperança · ESHospital Universitari Germans Trias i Pujol · ESInstitut Català d'Oncologia · ESUniversity of Milano-Bicocca · IT

Funding

APU and ADISCON Patient associationsEuropean Union’s Horizon 2020 research and innovation programme MARIE SKLODOWSKA-CURIE GRANT AGREEMENT NO 894737Spanish Ministry of Science and Innovation (MICINN) RTC2019-007074-1Spanish Ministry of Science and Innovation (MICINN) RTI-2018-101735-B-I100 (MCI/AEI/FEDER, EU)
6 · The paper itself

Abstract

Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the

Indexed as

AdultCodon, NonsenseFemaleGPI-Linked ProteinsHemochromatosisHemochromatosis ProteinHistocompatibility Antigens Class IHumansIronLiverMaleMembrane ProteinsMiddle AgedPedigreeReceptors, TransferrinCodon, NonsenseGPI-Linked ProteinsHemochromatosis ProteinHistocompatibility Antigens Class IHJV protein, humanIronMembrane ProteinsReceptors, TransferrinTFR2 protein, humanHFE2 geneHFE related hereditary hemochromatosishomozygousiron overloadmissensenon-HFE related hereditary hemochromatosisnonsenseTFR2 gene

Identifiers

PMID34946929
PMCPMC8702017
OpenAlexW4200080584

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.