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A disintegrin and metalloprotease 17 (ADAM17), also called TACE (tumor necrosis factor-α-converting enzyme), is a 70-kDa enzyme that belongs to the ADAM protein family of disintegrins and metalloproteases, activated by substrate presentation.
ADAMs (short for a disintegrin and metalloproteinase) are a family of single-pass transmembrane and secreted metalloendopeptidases. [1] [2] All ADAMs are characterized by a particular domain organization featuring a pro-domain, a metalloprotease, a disintegrin, a cysteine-rich, an epidermal-growth factor like and a transmembrane domain, as well as a C-terminal cytoplasmic tail. [3]
Hyper-IgD syndrome (Mevalonate kinase deficiency) CIAS1-related diseases: Muckle–Wells syndrome; Familial cold autoinflammatory syndrome, types 1, 2, 3, and 4; Neonatal onset multisystem inflammatory disease; NLRP1 deficiency; PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) ADAM17 deficiency; Blau syndrome
Regarding incidence, cohort longitudinal studies (studies where a disease-free population is followed over the years) provide rates between 10 and 15 per thousand person-years for all dementias and 5–8 for AD, [235] [236] which means that half of new dementia cases each year are Alzheimer's disease. Advancing age is a primary risk factor for ...
Adult-onset immunodeficiency syndrome is a type of immunodeficiency. It is linked to vulnerability to disseminated infections brought on by opportunistic pathogens. People with this condition have increased levels of anti-interferon-gamma autoantibodies. These particular immune system proteins mistakenly target an individual's own tissues.
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting.
But elimination of any gene essential for base excision repair kills the embryo—it is too lethal to display symptoms (much less symptoms of cancer or "accelerated aging"). [38] Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features ...
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), [ 6 ] [ 7 ] presents as atypical genitalia in affected males.