نتایج جستجو برای: monogenic diseases
تعداد نتایج: 852089 فیلتر نتایج به سال:
Introduction B cells play a central role in the pathogenesis of many autoimmune diseases. Therefore, understanding the mechanisms that regulate B-cell tolerance in humans is important for the development of new therapeutic strategies. Patients with monogenic diseases provide rare opportunities to study the impact of specific gene mutations on the regulation of human B cell tolerance. By this, w...
auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive t cells, and an inborn error of innate immunity. a narrative literature review was carried out of studies related to auto-inflammatory syndromes ...
The current status of our knowledge of genetic diseases is reviewed. The incidence of monogenic, multifactorial and chromosomal disorders, according to the literature to date, is given, and the possibilities of mass screening programmes are discussed. The prospects for antenatal diagnosis of genetic diseases are reviewed, with emphasis on the indications for amniocentesis and the safety of the ...
This review summarizes the mechanisms of cellular cholesterol transport and monogenic human diseases caused by defects in intracellular cholesterol processing. In addition, selected mouse models of disturbed cholesterol trafficking are discussed. Current pharmacological strategies to prevent atherosclerosis are largely based on altering cellular cholesterol balance and are introduced in this co...
Monogenic diabetes constitutes a heterogeneous group of single gene disorders. The molecular background and clinical picture of many of these diseases have been described. While each of these forms is much less prevalent than multifactorial type 1 and type 2 diabetes mellitus (T2DM), together they affect millions of patients worldwide. Genetic diagnosis, which has become widely available, is of...
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal di...
Abstract Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with overt disease. Clinical expressivity, on other hand, describes degree which certain disease characteristics are present. In this article, we discuss implications reduced genetic testing and counseling, outline how can b...
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