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Oestrogens acting via nuclear receptors (encoded by ESR1 or ESR2) are important for pathogenesis of systemic lupus erythematosus (SLE). rs2234693 and rs4986938 are two single nucleotide polymorphisms (SNPs) whose C and A variants increase transcription of ESR1 and ESR2, respectively. The T allele of rs2234693 was associated with early onset SLE, whereas the(More)
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this(More)
RATIONALE Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy. OBJECTIVE To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine(More)
RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in two patients; however, the diagnosis of(More)
Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular defect. WES was performed using TruSeqExome enrichment, followed by variant(More)
INTRODUCTION Inhabitants living in areas with endemic dietary iodine intake deficiency develop nodular goitre. The aim of our study was to evaluate thyroid morphology and function among adults residing in Lower Silesia and to assess the effect on the thyroid gland of an iodine-based contrasting agent administered during a cardiac intervention procedure. (More)
This paper presents the concept of an Adaptive SOA Solution Stack (AS3). It is an extension of the S3 model, implemented via uniform application of the AS3 element pattern across different layers of the model. The pattern consists of components constituting an adaptation loop. The functionality of each component is specified in a generic way. Aspects of(More)
Cloud Computing is the evolution of the Grid Computing paradigm towards service-oriented architectures. The terminology applied to this kind of processing, when describing shared resources, refers to the concept of X as a Service. Such resources are available on demand and at a significantly lower cost compared to self-delivery of individual components (in(More)