Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family.

Hye Kyung Lee, Teemu Haikarainen, Yasemin Caf, Priscilla A Furth, Ludwig Knabl, Olli Silvennoinen, Lothar Hennighausen

Abstract read

In one paragraph

Article in International journal of molecular sciences, 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

7 authors.

Hye Kyung LeeNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-7785-5942

Teemu HaikarainenFaculty of Medicine and Health Technology, Tampere University, 33100 Tampere, Finland.

Yasemin CafY2L2Science GmbH, Hauptplatz 4, 6511 Zams, Austria.

Priscilla A FurthNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3883-0715

Ludwig KnablY2L2Science GmbH, Hauptplatz 4, 6511 Zams, Austria.

Olli SilvennoinenFaculty of Medicine and Health Technology, Tampere University, 33100 Tampere, Finland.ORCID 0000-0003-0747-9512

Lothar HennighausenNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-8319-9841

Funding

Finnish Cancer Foundation Research Council of FinlandNIDDK NIH HHS Intramural Research ProgramSigrid Juselius Foundation Research Council of FinlandTampere Tuberculosis Foundation Research Council of FinlandTampere University Hospital - Fimlab Competitive Research Funding

6 · The paper itself

Abstract

The Janus Kinase (JAK) and Signal Transducers and Activators of Transcription (STAT) pathways regulate a range of biological processes, including immune response and hematopoiesis. While a major research focus has been on somatic human mutations in disease, less is known about the heritability of germline variants and their physiological impact. This study addresses an important issue in population genetics: the context-dependent effects and incomplete penetrance of rare genetic variants in immune pathways. Here we identify the rare JAK3

Indexed as

Janus Kinase 3STAT5 Transcription FactorSTAT6 Transcription FactorFemaleGerm-Line MutationHumansPedigreeSignal TransductionTranscription, GeneticTranscriptomeJAK3 protein, humanJanus Kinase 3STAT5 Transcription FactorSTAT6 protein, humanSTAT6 Transcription Factorgermline genetic variantsimmune transcriptome profilingJAK-STAT signaling pathwayvariant penetrance and heritability

Identifiers

PMID41596571

DOI10.3390/ijms27020913

PMCPMC12842485

What OpenQuestion holds

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LicenceCC BY

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Registered trials

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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.