Incomplete penetrance and variable expressivity: is there a microRNA connection?
نویسندگان
چکیده
منابع مشابه
Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance a...
متن کاملThe variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.
Most targeted gene mutations are recessive and analyses of gene function often focus on homozygous mutant phenotypes. Here we describe parts of the expression pattern of M-twist in the head of developing wild-type mice and present our analysis of the phenotype of heterozygous twist- null animals at around birth and in adults. A number of twist -null heterozygous mice present skull and limb defe...
متن کاملIs there a connection?
Ablation of persistent atrial fibrillation (AF) remains challenging, particularly as the duration of continuous AF before the procedure increases. Attainment of durable pulmonary vein (PV) isolation remains a fundamental goal in this population; continuous retriggering from focal peri-PV sources (both automaticity and localized reentry) as a potential mechanism for maintaining persistent AF was...
متن کاملReduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.
BACKGROUND Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Although some embryological pathways have been elucidated, the molecular etiologies of ASD are not fully understood. Most cases of ASD are isolated, but some individuals with ASD have a family history of this defect or o...
متن کاملCholesterol and violence: is there a connection?
PURPOSE To determine whether the seeming relation between low or lowered cholesterol levels and violence is consistent with causality according to Hill's criteria and whether construct validity is supported by convergence of findings across different types of studies. DATA SOURCES Search of the MEDLINE database for English-language articles published between 1965 and 1995 was supplemented by ...
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ژورنال
عنوان ژورنال: BioEssays
سال: 2009
ISSN: 0265-9247,1521-1878
DOI: 10.1002/bies.200900066