Homozygous, or homozygosity, refers to the inheritance of genes from each biological parent. Inheriting faulty genes from both parents can cause a person to develop the associated condition. Genetic ...

In general, humans have the same genes. A number of genes are varied. These control our physical traits and health. Each variation is called an allele. You inherit two alleles for each gene. One comes ...

What Is Homozygous Familial Hypercholesterolemia? Homozygous familial hypercholesterolemia is a disorder where it is hard for your body to remove LDL "bad" cholesterol from your blood. The disease ...

Medical experts illustrate an array of characteristics presented in patients with HoFH. Erin Michos, MD, MHS: In homozygous FH [familial hypercholesterolemia], the LDL [low-density lipoprotein] ...

Eliot Brinton, MD, opens a discussion surrounding the treatment landscape for patients with homozygous familial hypercholesterolemia (HoFH). Eliot Brinton, MD: I’m Dr Elliot Brinton. I’m the president ...

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The C677T in the gene that encodes MTHFR decreases the activity of ...

Genome-wide mutagenesis in mouse embryonic stem cells (ESCs) is a powerful tool, but the diploid nature of the mammalian genome hampers its application for recessive genetic screening. We have ...

Hemochromatosis is a condition in which too much iron builds up in the body. When people inherit the condition via their genes, it can be heterozygous or homozygous. “Heterozygous” means the person ...

Familial hypercholesterolemia (FH) is characterized by the accumulation of excess cholesterol in tissues including the artery wall and tendons. We describe a patient with homozygous FH who presented ...

This study is led by Professor Qi-Jun Chen (State Key Laboratory of Plant Environmental Resilience, College of Biological Sciences, China Agricultural University, Beijing 100193, China). The authors ...

Homozygous familial hypercholesterolemia is characterized by premature cardiovascular disease caused by markedly elevated levels of low-density lipoprotein (LDL) cholesterol. This disorder is ...