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One of the greatest challenges for geneticists is the identification of genetic determinants involved in complex traits. These diseases do not show Mendelian patterns of inheritance and involve the interactions of both genetic and environmental factors, to produce an overall risk factor for develop ...
Numerous neurodegenerative diseases are characterized by protein aggregates in specific brain regions, although they are accumulating in different cellular compartments. One group of diseases which are caused by polyglutamine expansions in the respective gene such as Huntington’s disease and spino ...
Aneuploid states cause recognizable clinical syndromes that are named after their discoverer (Down syndrome, Wolf-Hirschhorn syndrome etc), after their main clinical symptoms (velacardiofacial syndrome, cri-du-chat syndrome) or after their localization in the genome (1p36 deletion syndrome, 22q11 de ...
The ciliopathies are a group of genetically heterogeneous but clinically overlapping disorders that are caused by structural and/or functional defects in the cilium and the basal body. Recent progress in elucidating the genetic and cellular etiology of these disorders is emphasizing the importance o ...
Aortic aneurysms are an important cause of mortality in the western world. Monogenic disorders such as the Marfan syndrome (MFS) are an important genetic model for the pathogenesis of aortic aneurysm. In the MFS, progressive dilatation of the aortic root leads to aortic aneurysm and dissection, ofte ...
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