Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Practical challenges for functional validation of STAT1 gain of function genetic variants.

Clinical and experimental immunology - 25 Apr 2023

Albuquerque Adriana S, Maimaris Jesmeen, McKenna Alexander J, Lambourne Jonathan, Moreira Fernando, Workman Sarita, Megy Karyn, Simeoni Ilenia, Lango Allen Hana, Morris Emma C, Burns Siobhan O

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Candidiasis, Chronic Mucocutaneous
Share to Gain of Function Mutation
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to STAT1 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 36722341
DOI: 10.1093/cei/uxad008
PMCID: PMC10128160

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Practical challenges for functional validation of STAT1 gain of function genetic variants.PMID 36722341Read ↗

Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.Semantic proximity Read ↗

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic DiseaseSemantic proximity Read ↗

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Semantic proximity Read ↗

Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyondSemantic proximity Read ↗

Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants.Semantic proximity Read ↗

A germline STAT6 gain-of-function variant is associated with early-onset allergiesSemantic proximity Read ↗

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.Semantic proximity Read ↗

Genetic lessons learned from pathogenic variants in KRT1.Semantic proximity Read ↗

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatmentSemantic proximity Read ↗

A novel gain-of-function mutation in STAT5B is associated with treatment-resistant severe atopic dermatitis.Semantic proximity Read ↗

Orf Infection in a Patient with Stat1 Gain-of-FunctionSemantic proximity Read ↗

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.