نتایج جستجو برای: nucleotide polymorphisms
تعداد نتایج: 172638 فیلتر نتایج به سال:
conclusions although previous studies have shown that a-g transition mutations in 23 srrna gene (domain v) are the main reason for the occurrence of high level macrolides resistance in b. pertussis, however, the mentioned single nucleotide polymorphisms (snps) have not been detected in our resistant strain. this is the first report of high level macrolide resistant b. pertussis, without snps in...
Understanding how single nucleotide polymorphisms (SNPs) lead to disease at a molecular level provides a starting point for improved therapeutic intervention. SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and early onset sarcoidosis (EOS) through receptor hyperactivation. Here, we show that these polymorphis...
Cerebral small vessel disease-related brain lesions such as white matter lesions and lacunes are common findings of magnetic resonance imaging in the elderly. These lesions are thought to be major contributors to disability in old age, and risk factors that include age and hypertension have been established. The radiological, histopathologic and clinical phenotypes of age-related cerebral small...
The genesis of brain arteriovenous malformations remains enigmatic. We reviewed some pathways involving inflammatory and angiogenic signals that are amenable to the study of genetic single-nucleotide polymorphisms associated with the sporadic disease. Such study can yield insights into arteriovenous malformation pathogenesis and suggest possible fruitful approaches to developing medical therapy...
Polymorphisms are DNA variations between different individuals of the same species. There are several types of polymorphisms, including single nucleotide polymorphisms (SNPs), variable number tandem repeats, insertions and deletions, large-scale polymorphisms, and copy number variants. In addition to helping explain the genetic basis of our diversity, understanding polymorphisms is also medical...
A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. The protein encoded by ERCC2 is a key enzyme involved in nucleotide excision repair, in which gene defects could lead to cancer prone syndromes such as Xeroderma pigmentosum D. We have examined the association between single nucleotide polymorphisms in the ERCC2 gene ...
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