نتایج جستجو برای: monogenic diseases
تعداد نتایج: 852089 فیلتر نتایج به سال:
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndr...
We review novel gene transfer strategies proposed to be suitable for the treatment Duchenne Muscular Dystrophy (DMD): use of hybrid adeno-retroviral vectors to stably replace dystrophin ultimately in patients lacking this gene and the potential intravenous application of stem cells and monocytes for targeted gene transfer. We discuss the limitations of current vector technology and demonstrate ...
A – Transmissible paternal/maternal genetic alterations: Diseases that affect a single gene or monogenic (dominant, recessive or X-linked), whose mutation is known and can be analysed. X chromosome-linked disorders, whose gene is not known or has some heterogeneity, but is avoided with sex selection. Structural chromosomal abnormalities such as Robertsonian or reciprocal translocations. B...
Introduction Systemic autoinflammatory diseases (SAIDs) are a group of monogenic disorders characterized by inflammation which occurs in the absence of pathogenic auto-antibodies, autoreactive T lymphocytes or other infective causes. More than 50% of SAID patients recruited to our Unit does not show any mutation at gene(s) tested by direct Sanger sequencing in the routine diagnosis. Clinical mi...
Neuromuscular disorders (NMDs) are a group of genetic disorders that affect the peripheral nervous system and muscle, consequently leading to a significant disability in children as well as in adults. NMDs include more than 200 monogenic disorders with a total incidence exceeding 1 in 3,000 [1]. Some of the more extreme diseases in the spectrum include amyotrophic lateral sclerosis (ALS), conge...
Background and objectives Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. They result from the complex interaction between genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. They mostly include monogenic conditions, especially type ...
Introduction Hereditary autoinflammatory diseases (AID) are characterized by recurrent bouts of systemic inflammation caused by dysregulation of the innate immunity system. The genotype-phenotype correlation can be highly variable which makes a genetic diagnosis in AID patients complex and laborious. A clear and definitive diagnosis cannot be provided for up to 80% of AID patients, which can be...
Structural and functional brain connectivity, synaptic activity, and information processing require highly coordinated signal transduction between different cell types within the neurovascular unit and intact blood-brain barrier (BBB) functions. Here, we examine the mechanisms regulating the formation and maintenance of the BBB and functions of BBB-associated cell types. Furthermore, we discuss...
The observation that only a fraction of individuals infected by infectious agents develop clinical disease raises fundamental questions about the actual pathogenesis of infectious diseases. Epidemiological and experimental evidence is accumulating to suggest that human genetics plays a major role in this process. As we discuss here, human predisposition to infectious diseases seems to cover a c...
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