HLA-C*02:106 allele differs from C*02:02:02:01 by a C to T substitution in exon 4.
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Subacute thyroiditis - Is it really linked to viral infection? Retrospective hospital patient registry study.
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Institute of Virology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Objective: Subacute thyroiditis (SAT) is a painful inflammatory disorder of the thyroid gland, which - after a phase of thyrotoxicosis - leads to transient, or less frequently permanent hypothyroidism. Apart from a strong association with specific HLA alleles, the causes are uncertain. Viral disease has been hypothesised as a trigger, with Enteroviruses, namely Echoviruses and Coxsackieviruses, showing a seasonal distribution that coincides with the incidence of SAT.
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Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
Idiosyncratic drug reactions (IDRs) pose severe threats to patient health. Unlike conventionally dose-dependent side effects, they are unpredictable and frequently manifest as life-threatening conditions, such as severe cutaneous adverse reactions (SCARs) and drug-induced liver injury (DILI). Some HLA alleles, such as , , and , are known risk factors for adverse reactions induced by multiple drugs.
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Prz Menopauzalny
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Faculty of Science, Department of Biology, University of Kufa, Kufa, Iraq.
Introduction: Breast cancer is the predominant form of malignancy among women. Polymorphisms in DNA repair genes, such as X-ray repair cross complementing 3 (XRCC3), can influence an individual's capability to repair damaged DNA. This can result in genetic instability and potentially contribute to the development of cancer.
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Heliyon
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Discipline of Clinical Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia, 11800, USM Pulau Pinang, Malaysia.
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Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.
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