Article

Heritability and transcriptional impact of JAK3, STAT5A and STAT6 variants in a Tyrolean family

2025-12-16

Abstract excerpt

The Janus Kinase (JAK) and Signal Transducers and Activators of Transcription (STAT) pathway 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. Here we identify the rare JAK3 P151R , JAK3 R925S , STAT5A V494L an...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 227007bf-f050-5c26-9477-75ac354f32fb
DOI: 10.64898/2025.12.14.694240

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heritability and transcriptional impact of JAK3, STAT5A and STAT6 variants in a Tyrolean familyDOI 10.64898/2025.12.14.694240Read

The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.Semantic proximity Read

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.Semantic proximity Read

Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity.Semantic proximity Read

Human diseases caused by impaired signal transducer and activator of transcription and Janus kinase signaling.Semantic proximity Read

Inborn errors of human JAKs and STATs.Semantic proximity Read

Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases.Semantic proximity Read

Inborn errors of STAT1 immunity.Semantic proximity Read

Human Germline Heterozygous Gain-of-Function <i>STAT6</i> Variants Cause Severe Allergic DiseaseSemantic proximity Read

Inherited <i>STAT3</i> mutation mediates familial autoimmune disease, leukemogenesis, and responses to immunomodulatorSemantic proximity Read

A rare JAK2 mutation associated with adult-onset Still's disease and exacerbated vaccine-induced innate immune response.Semantic proximity Read

In Silico Genetics: Identification of pathogenic nsSNPs in human <i>STAT3</i> gene associated with Job’s syndromeSemantic proximity Read

Disease-Associated Mutations of the STAT5B SH2 Domain Regulate Cytokine-Driven Enhancer Function and Mammary Development.Semantic proximity Read