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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]
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania , hypersexuality and violence), sleep disorders and mood swings.
Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6, C7, and C8. (While C9 is part of the MAC, and deficiencies have been identified, [1] it is not required for cell lysis. [2]) People with this condition are prone to meningococcal infection. [3]
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome [2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. [3]
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.
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
The prognosis depends on the type of cells affected, the number of blasts in the bone marrow or blood, and the changes present in the chromosomes of the affected cells. [3] The average survival time following diagnosis is 2.5 years. [4] MDS was first recognized in the early 1900s; [5] it came to be called myelodysplastic syndrome in 1976. [5]