A Strategy analysis for genetic association studies with known inbreeding [PDF]
Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco+9 more
core +4 more sources
Physiological conditions influencing regenerative potential of stem cells [PDF]
Stem cells are being used in the treatment of cardivovascular diseases. Here, we review the physiologic and pathologic conditions that impact the regenerative potential of stem cells in the treatment of cardiovascular diseases which include the influence
Avitabile, Daniele+3 more
core +1 more source
DENTITION CHANGES IN GENETIC DISEASES
This paperwork aims to identify the dentition’s changes in genetic diseases and to find solutions to solve them. Method: We studied 31 patients with different genetic diseases (Down syndrome, Turner syndrome, Prader-Willy syndrome, Bardet-Biel syndrome,
Carmen Galea+4 more
doaj +1 more source
Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan+3 more
doaj +1 more source
Genetics of Proteasome Diseases [PDF]
The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome genePSMA6(−8C/G) is associated with three different diseases: type 2 diabetes ...
openaire +5 more sources
Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya)+3 more
core +3 more sources
Effect of Biodiversity Changes in Disease Risk: Exploring Disease Emergence in a Plant-Virus System [PDF]
The effect of biodiversity on the ability of parasites to infect their host and cause disease (i.e. disease risk) is a major question in pathology, which is central to understand the emergence of infectious diseases, and to develop strategies for their ...
A Casas+61 more
core +4 more sources
The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj
Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians
Background Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of ...
Shilpa Reddy+7 more
doaj +1 more source
FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases [PDF]
Long-chain polyunsaturated fatty acids (LC-PUFAs) play an important role in several physiological processes and their concentration in phospholipids has been associated with several complex diseases, such as atopic disease.
Heinrich, Joachim+3 more
core +1 more source