نتایج جستجو برای: genetic modifiers
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BACKGROUND Phenotypes often differ even within family members carrying the same SCN5A mutation. We aimed to evaluate the genetic modifiers in a family with Brugada syndrome (BrS) and sick sinus syndrome (SSS) with an SCN5A mutation that causes the truncated alpha-subunit of cardiac Na channel protein. METHODS To detect the genetic modifiers, we performed targeted panel sequencing of the codin...
Clinically relevant features of monogenic diseases, including severity of symptoms and age of onset, can vary widely in response to environmental differences as well as to the presence of genetic modifiers affecting the trait's penetrance and expressivity. While a better understanding of modifier loci could lead to treatments for Mendelian diseases, the rarity of individuals harboring both a di...
IDENTIFICATION OF CELLULAR FUNCTIONS OF CARDIOLIPIN ASPHYSIOLOGICAL MODIFIERS OF BARTH SYNDROMEbyAMIT S. JOSHIDecember 2012 Advisor:Dr. Miriam L. GreenbergMajor:Biological SciencesDegree:Doctor of PhilosophyCardiolipin (CL) is an anionic phospholipid synthesized in themitochondrial inner membrane. Perturbation of CL metabolism leads to Barthsyndro...
Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania Objective. Cleft lip with or without cleft palate (CLP) is a common congenital abnormality involving genetic and non-genetic factors in its etiology. Although many studies have been made to find the genetic pattern of this malformation, there is still no precise answer. ...
Atypical manifestation of Huntington's disease (HD) could inform ongoing research into HD genetic modifiers not present in the primarily European populations studied to date. This work demonstrates that expanding HD genetic testing into under-resourced healthcare settings can benefit both local communities and ongoing research into HD etiology and new therapies.
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