Results 11 to 20 of about 47,631 (258)
Monogenic autoinflammatory diseases [PDF]
Rheumatology, 2014 During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system.
Ricardo A G, Russo, Paul A, Brogan
openaire +2 more sources
DNA Methylation in the Diagnosis of Monogenic Diseases [PDF]
Genes, 2020 DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans,
Flavia Cerrato +22 more
openaire +8 more sources
Overview of Monogenic Forms of Hypertension Combined With Hypokalemia
Frontiers in Pediatrics, 2021 Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare ...
Yi-Ting Lu +8 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment.
Lin Yang +26 more
doaj +1 more source
Translational potential of base-editing tools for gene therapy of monogenic diseases
Frontiers in Bioengineering and Biotechnology, 2022 Millions of people worldwide have rare genetic diseases that are caused by various mutations in DNA sequence. Classic treatments of rare genetic diseases are often ineffective, and therefore great hopes are placed on gene-editing methods.
Vasiliy V. Reshetnikov +7 more
doaj +1 more source
Monogenic mimics of Behçet’s disease in the young [PDF]
Rheumatology, 2019 Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alternative, monogenic disease mimicking BD.
Papadopoulou, C +9 more
openaire +3 more sources
New insights from monogenic diabetes for "common" type 2 diabetes
Frontiers in Genetics, 2015 Boundaries between monogenic and complex genetic diseases are becoming increasingly blurred, as a result of better understanding of phenotypes and their genetic determinants.
DIVYA SRI PRIYANKA eTALLAPRAGADA +2 more
doaj +1 more source
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Nature Communications, 2020 Genetic variation predisposes to disease via monogenic and polygenic risk variants. Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928 individuals.
Akl C. Fahed +16 more
doaj +1 more source
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders
Biomedicines, 2023 Monogenic autoimmune disorders represent an important tool to understand the mechanisms behind central and peripheral immune tolerance. Multiple factors, both genetic and environmental, are known to be involved in the alteration of the immune activation ...
Federica Costa +9 more
doaj +1 more source
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases
Frontiers in Medicine, 2022 ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture ...
Carla Gaggiano +103 more
openaire +12 more sources