Evidence map›Paper›PMID 39201615›Full record

ReviewInternational journal of molecular sciences2024

Loss-of-Function Variants in

Cornelis L Harteveld, Ahlem Achour, Nik Fatma Fairuz Mohd Hasan, Jelmer Legebeke, Sandra J G Arkesteijn, Jeanet Ter Huurne, Maaike Verschuren, Sharda Bhagwandien-Bisoen, Rianne Schaap, Linda Vijfhuizen and 8 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of molecular sciences, 2024. 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
–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

3 citing papers in PubMed.

  1. Elevated Hemoglobin AJournal of clinical laboratory analysis · 2026
    Article
  2. Article
  3. Review
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.

Cornelis L HarteveldDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Ahlem AchourDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.ORCID 0000-0001-5262-434X
Nik Fatma Fairuz Mohd HasanDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.ORCID 0009-0007-3593-6350
Jelmer LegebekeDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.ORCID 0000-0003-1194-8959
Sandra J G ArkesteijnDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Jeanet Ter HuurneDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Maaike VerschurenDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Sharda Bhagwandien-BisoenDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Rianne SchaapDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Linda VijfhuizenDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Hakima El IdrissiDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Christian BabbsRadcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK.
Douglas R HiggsRadcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK.
Tamara T KoopmannDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.ORCID 0009-0008-9632-6713
Christina VrettouLaboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece.
Joanne Traeger-SynodinosLaboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece.ORCID 0000-0002-1860-5628
Frank BaasDepartment of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
International Hemoglobinopathy Research Network (INHERENT)

Funding

Medical Research Council MR/T014067/1Medical Research Council MR/X001210/1
6 · The paper itself

Abstract

It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers of

Indexed as

beta-ThalassemiaNuclear ProteinsTranscriptional Elongation FactorsHeterozygoteHumansLoss of Function MutationPhenotypeNuclear ProteinsSUPT5H protein, humanTranscriptional Elongation Factorsbeta-thalassemiahematologyhemoglobinmodifying factormolecular diagnosisSUPT5Hβ-thalassemia intermedia

Identifiers

PMID39201615
PMCPMC11354595

What Socratic 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 Socratic graph.