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 ...

A new study combined expertise in barley genetics and genomics from the research group led by Dr. Ping Yang (Institute of Crop Sciences, Chinese Academy of Agricultural Sciences) and that in barley ...

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 ...

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

Around the world, patients with homozygous familial hypercholesterolemia (HoFH) are diagnosed too late in life and remain significantly undertreated with LDL cholesterol-lowering medications, ...

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 ...

The variants of ARPC1B described in the literature are displayed, with the red-highlighted variant indicating the one identified in our patient. (B) The variant identified in our patient is located in ...

FDA expands Juxtapid approval for pediatric patients aged 2 years and older with homozygous familial hypercholesterolemia to reduce plasma LDL-C levels.