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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1,004 - 1,007 (4page)
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Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused byunusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling andimmune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominantchronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on apatient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severebronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrenceof the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be awareof the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.
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참고문헌 (19)
참고문헌 신청
Polverino E / 2017 / European Respiratory Society guidelines for the management of adult bronchiectasis / Eur Respir J 50:1700629
Chalmers JD / 2015 / Management of bronchiectasis in adults / Eur Respir J 45:1446~1462
Pasteur MC / 2010 / British Thoracic Society guideline for non-CF bronchiectasis / Thorax 65(Suppl 1):i1~i58
Araujo D / 2017 / Standardised classification of the aetiology of bronchiectasis using an objective algorithm / Eur Respir J 50:1701289
Chapgier A / 2006 / Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease / PLoS Genet 2:e131
Chalmers JD / 2015 / Management of bronchiectasis in adults / Eur Respir J 45:1446~1462
Pasteur MC / 2010 / British Thoracic Society guideline for non-CF bronchiectasis / Thorax 65(Suppl 1):i1~i58
Araujo D / 2017 / Standardised classification of the aetiology of bronchiectasis using an objective algorithm / Eur Respir J 50:1701289
Chapgier A / 2006 / Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease / PLoS Genet 2:e131
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First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
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Gallic Acid Inhibits STAT3 Phosphorylation and Alleviates DDS-induced Colitis via Regulating Cytokine Production
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STAT6 and PARP Family Members in the Development of T Cell-dependent Allergic Inflammation
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Cadmium-induced oxidative stress regulation of mitochondria STAT3
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Cytokine Signaling in Tumor Progression
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Association Between Signal Transducers and Activators of Transcription 4 rs7574865 Polymorphism and Systemic Lupus Erythematosus: A Meta-analysis
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Single Nucleotide Polymorphisms in STAT3 and STAT4 and Risk of Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B
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STAT3 as a Potential Target for Tumor Suppressive Effects of 15-Deoxy-Δ12,14-prostaglandin J2 in Triple Negative Breast Cancer
대한암예방학회지
2021 .09
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Melatonin protects against cadmium-induced oxidative stress via mitochondrial STAT3 signaling in human prostate stromal cells
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Anticancer effects of 3-Formylchromone in multiple myeloma
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Phase I Dose-Finding Study of OPB-111077, a Novel STAT3 Inhibitor, in Patients with Advanced Hepatocellular Carcinoma
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Identification of cytokine-regulated tissue specific STAT5 target genes
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Signaling web of SMADs and STAT3 in the development of arthritogenic Th17
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2019 .07
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A novel STAT3 inhibitor, STX-0119, attenuates liver fibrosis in mice via inhibition of hepatic stellate cell activation
한국실험동물학회 학술발표대회 논문집
2018 .01
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Effect of STAT3 on Lysophosphatidic Acid-Induced Oral Cancer Cell Invasion
치위생과학회지
2019 .01
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