Browsing Biomedical Sciences by Subject "in silico"
Now showing items 1-2 of 2
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In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
( Wiley , 2018 , Article)Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ... -
A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.
( Verduci Editore s.r.l. , 2020 , Article)Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. While sarcomeric gene mutations explain many HCM cases, the genetic basis of about half of HCM cases remains elusive. Here we aimed to ...