Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder a person can inherit from a parent. It can cause a person to develop dangerously high cholesterol levels. HeFH affects how a ...

The non-receptor tyrosine kinase, focal adhesion kinase (FAK), can signal downstream of integrins and growth factor receptors 1. FAK is expressed ubiquitously and has essential roles in a number of ...

Homozygous deficiency of alpha 1-atitrypsin is known to predispose to pulmonary emphysema. Measurement of the trypsin inhibitory capacity (TIC) of serum specimens from 28 relatives of a homozygous ...

Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian ...

Genome Wide Association Study (GWAS) of cognitive impairment after blood or marrow transplantation (BMT) for hematologic malignancy. This is an ASCO Meeting Abstract from the 2020 ASCO Annual Meeting ...

Details of a 60-year-old male individual from Germany who achieved sustained HIV remission after a stem cell transplant, the seventh-known case reported to date, are published in Nature this week.

(A): Pedigree of the patient's family, including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of pregnancy, two healthy brothers and sister carrying the mutation and the ...

In a 24-week, randomized, placebo-controlled trial, evolocumab, a fully human anti-PSCK9 monoclonal antibody, was studied in pediatric patients who had heterozygous familial hypercholesterolemia and ...