However, when using these genome editing tools for replacing portions of the genes, such as the disease-causing mutations in JAK2 and SERPINA1
genes, CRISPR and TALEN showed about the same efficiency in patient-derived iPSCs, the researchers report.
PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort.
En los ultimos anos la SERPINA1 ha adquirido gran importancia frente a la infeccion por el VIH, porque se ha demostrado que inhibe la replicacion viral in vivo e in vitro en lineas celulares infectadas.
La concentracion de SERPINA1 es regulada por las hormonas femeninas; es alta durante la fase menstrual y baja en las mujeres que toman anticonceptivos orales.
This grey area of intermediate AATD remains poorly characterized in terms of correlation between SERPINA1
genotypes and serum AAT concentrations.
Ferrarotti's research project is entitled "New Confidence Intervals for AAT Plasma Levels by Identification of SERPINA1
Gene Recurrent Haplotypes" and will focus on improving understanding of the AAT genotype/phenotype relationship and clarifying the boundary between intermediate and severe disease.
The most common wild-type SERPINA1
gene sequence, designated as the M allele, and several variants identified by isoelectric focusing, including M1, M2, G, X, C, and D alleles, are associated with concentrations of the A1AT protein that are within the reference interval (approximately 20-40 [micro]mol/L) (1, 4).
 [serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1] gene is located on the long arm of chromosome 14 (14q31-32.
PI" is the former nomenclature for the SERPINA1
[serpin peptidase inhibitor, clade A (a1 antiproteinase, antitrypsin), member 1] gene locus and stands for protease inhibitor.