A. 1976 . Intermediate alpha 1 -antitrypsin deficiency resulting from a null gene ( M -phenotype) . Chest 70 : 532 – 535 .Lieberman J, Gaidults L, Schleissner LA: Intermediate alpha1-antitrypsin deficiency resulting from a null gene (M-phenotype). Chest 1976, 70:532-535....
Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome.Philippe...
AAT, alpha-1 antitrypsin; ER, endoplasmic reticulum; ERAD, endoplasmic reticulum-associated degradation; PAS-D, periodic acid-Schiff-diastase; siRNA, small-interfering RNA. More than 100 variants of SERPINA1, the gene encoding AAT, have been described. They are grouped based on the migration of ...
Inherited deficiency of the antiprotease alpha-1 antitrypsin (AAT) is associated with liver failure and early-onset emphysema. In mice, in vivo lentiviral transduction of alveolar macrophages (AMs) has been described to yield protective pulmonary AAT lev
NP cells are rounded, “chondrocyte-like” morphology; however, it has distinct phenotype and characteristics compared with chondrocytes [5]. α1-antitrypsin (AAT) was discovered in the mid-1950s but only came to prominence in 1963. It was identified as a potent serine protease inhibitor [6]...
Alpha-1-antitrypsin concentration was ana- (9) demonstrated that intact proteases are absorbed from the lyzed by lostrum ( inm=m3u)naoneldecotfrompahtourreesmis ilink samples of human co- from mothers between intestinal tract of newborn rabbits. They postulated that the unopposed entry of ...
G. Comparison of alpha-1-antitrypsin levels and antineutrophil elastase capacity of blood and lung in a patient with the alpha-1-antitrypsin phenotype null-null before and during alpha-1-antitrypsin augmentation therapy. Am. Rev. Respir. Dis. 135, 539–543 (1987). 57. Tsuji, A. et al. ...
In all, were demonstrated 4 subjects of phenotype ZZ, 29 of phenotype MZ, 3 of phenotype MS ; one subject had a phenotype SZ and 23 members of this family had normal levels of alpha-1-antitrypsin and were of phenotype MM. The disease was transmitted in all cases as an autosomic ...
Wewers MD, Casolaro MA, Crystal RG (1987) Comparison of alpha-1-antitrypsin levels and antineutrophil elastase capacity of blood and lung in a patient with the alpha-1-antitrypsin phenotype null-null before and during alpha-1-antitrypsin augmentation therapy. Am Rev Respir Dis 135(3):539–543...
AAT Alpha 1-Antitrypsin AATD Alpha 1-Antitrypsin deficiency PiZ or Z-AAT Alpha 1-Antitrypsin Z variant PiS Alpha 1-Antitrypsin S variant ZZ Homozygosis for the Z mutant allele MM Homozygosis for the M wild-type allele SS Homozygosis for the S mutant allele MS/MZ/SZ Heterozygous genotypes...