منابع مشابه
Modifier genes and oligogenic disease.
It is now increasingly apparent that modifier genes have a considerable role to play in phenotypic variations of single-gene disorders. Intrafamilial variations, altered penetrance, and altered severity are now common features of single gene disorders because of the involvement of several genes in the expression of the disease phenotype. Oligogenic disorders occur because of a second gene modif...
متن کاملAutosomal dominant polycystic kidney disease: modifier genes and endothelial dysfunction.
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple cysts in both kidneys, causing progressive renal failure. By the age of 60 years, about half the patients with ADPKD have end-stage renal disease (ESRD). In Europe and North America, ADPKD is responsible for 5–10% of the patients requiring renal replacement therapy [1]. ADPKD is also characteriz...
متن کاملModifier genes and variation in cystic fibrosis
The availability of molecular tools to carry out genotyping has led to a flurry of association studies between specific genes and clinical indices of disease or disease susceptibility. Human studies, for the most part, have a limited number of subjects available, precluding whole genome types of approaches. 'Candidate gene' strategies have consequently become widespread, probably in part due to...
متن کاملPutative modifier genes in mevalonate kinase deficiency.
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype. The identification of novel target genes may explain non‑homogeneous genotype‑phenotype co...
متن کاملRole of Modifier Genes in Idiopathic Cardiomyopathies
Cardiomyopathies are chronic diseases of heart muscle, in which the muscle is abnormally enlarged, thickened, and/or stiffened (1). According to American Heart Association, “Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation...
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ژورنال
عنوان ژورنال: Journal of Nippon Medical School
سال: 2005
ISSN: 1345-4676,1347-3409
DOI: 10.1272/jnms.72.326