Evidence map›Paper›PMID 42622427›Full record

ArticleNucleus (Austin, Tex.)2026

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.

Katrin Hoffmann, Amparo Vayá, José M Ricart Vayá, Oliver Küchler, Axel Schmidt, Nicolai von Kügelgen, Björn Fischer-Zirnsak, Karl Sperling

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nucleus (Austin, Tex.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Katrin HoffmannInstitute of Human Genetics, Martin Luther University Halle-Wittenberg, Halle, Germany.
Amparo VayáHemorheology and Haemostasis Unit, Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain.
José M Ricart VayáTrichology Unit, Instituto Médico Ricart, Hospital Quirónsalud Valencia, Valencia, Spain.
Oliver KüchlerInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Berlin, Germany.
Axel SchmidtInstitute of Human Genetics, School of Medicine, University Bonn & University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-9780-7243
Nicolai von KügelgenInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Berlin, Germany.ORCID 0000-0001-8116-9032
Björn Fischer-ZirnsakInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Berlin, Germany.
Karl SperlingInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Berlin, Germany.ORCID 0000-0003-2305-4370

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function affecting nuclear segmentation in neutrophils and an enzymatic function as a sterol reductase. Heterozygous

Indexed as

HomozygotePelger-Huet AnomalyReceptors, Cytoplasmic and NuclearAmino Acid SequenceFemaleHumansLamin B ReceptorMutation, MissenseLamin B ReceptorReceptors, Cytoplasmic and Nuclearchromatingranulocyte nucleiLamin B receptorLBRnuclear segmentationPelger–Huët anomalysterol metabolism

Identifiers

PMID42622427
PMCPMC13502039

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.