منابع مشابه
Hereditary of Alpha-1-Antitrypsin Deficiency
In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.
متن کاملHereditary alpha-1-antitrypsin deficiency and its clinical consequences
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent ...
متن کاملHereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase.
The properties of 5alpha-reductase have been compared in genital skin fibroblasts cultured from five patients from three families (Los Angeles, Dallas, and Dominican Republic) in which hereditary male pseudohermaphroditism has been established to result from deficient conversion of testosterone to dihydrotestosterone. Despite the fact that 5alpha-reductase was immeasurable in a homogenate of ep...
متن کاملRapid capping in alpha-spectrin-deficient MEL cells from mice afflicted with hereditary hemolytic anemia
A spectrin-based membrane skeleton is important for the stability and organization of the erythrocyte. To study the role of spectrin in cells that possess complex cytoskeletons, we have generated alpha-spectrin-deficient erythroleukemia cell lines from sph/sph mice. These cells contain beta-spectrin, but lack alpha-spectrin as determined by immunoblot and Northern blot analyses. The effects of ...
متن کاملUnique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis.
We report here a unique variant of alpha spectrin in a kindred with hereditary elliptocytosis. This novel red blood cell-membrane protein migrated to a position between the normal alpha- and beta-spectrin subunits in SDS polyacrylamide gel electrophoresis. It was identified as an alpha spectrin by its binding to anti-alpha spectrin antibodies, by the absence of a phosphorylation site, and by th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Immunology and Allergy Clinics of North America
سال: 2018
ISSN: 0889-8561
DOI: 10.1016/j.iac.2018.04.003