منابع مشابه
Molecular mechanisms of autosomal recessive hypercholesterolemia.
PURPOSE OF REVIEW Autosomal recessive hypercholesterolemia (ARH) is a rare Mendelian dyslipidemia characterized by markedly elevated plasma LDL levels, xanthomatosis, and premature coronary artery disease. LDL receptor function is normal, or only moderately impaired in fibroblasts from ARH patients, but their cultured lymphocytes show increased cell-surface LDL binding, and impaired LDL degrada...
متن کاملStandards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia.
The study of orphan diseases, defined by the US Food and Drug Administration as any condition that affects <200 000 people nationwide, has been crucial not only in our understanding of disease pathophysiology and gene discovery but also in therapeutic development. Individuals with orphan conditions have played an active role not only in improving care of their own condition but often in improvi...
متن کاملA novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
AIM The autosomal recessive hypercholesterolemia (ARH) gene is located on chromosome 1p35 and encodes a 308-amino acid protein containing a phosphotyrosine-binding domain. Several researchers have identified mutations of ARH that cause autosomal recessive hypercholesterolemia; however, it remains unknown whether this gene is involved in common hypercholesterolemia. METHODS AND RESULTS We sear...
متن کاملautosomal recessive disorder
A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic di...
متن کاملAutosomal Recessive Inheritance
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2018
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2017.11.028