Therefore, we undertook to construct a RecA-deficient single-copy Cre gene expression system for production of the minicircle vector DNA.
In this study, mice deficient for one copy of the IGF-I allele showed a slight increase in basal BMD and BV/TV at the cortical and trabecular site, respectively, when compared to the control-sham group.
A recent paper in the Proceedings Of The National Academy Of Sciences of the United States of America [ 10] showed that mice genetically altered to be deficient in both copies of the SAP gene appeared to be protected from the effects of endotoxin.
Our analysis of bacterial burden showed a median decrease from 1190 copies of ospA in wild type mouse bladders down to 526 copies in Nod2 deficient bladders and from 11,550 copies in wild type hearts down to 4,475 copies in Nod2 deficient hearts (p = 0.0335 and 0.0155) (Figure 7).
Severe jaundice struck nearly 33% of the G-6-PD-deficient newborns carrying one copy of the mutant UDPGT1 gene, and 50% of the G-6-PD-deficient infants carrying two mutant copies.
The distribution of HRD scores among cancer cell lines with heterozygous mutations is similar to cancer cell lines without BRCA defects, presumably because cells become HR deficient only when both copies of BRCA1 or BRCA2 are non-functional.
Replacing the dysfunctional or deficient gene with a functional copy has been achieved by administering the functional protein (Escobar 2013) and more recently by using gene therapy (Gaudet et al. 2013).
2, 3 AS is caused by deficient expression of the maternal copy of the UBE3A gene due to one of four molecular etiologies: deletion of the AS critical region on maternal chromosome 15q11-q13, paternal uniparental disomy (UPD) for chromosome 15, an imprinting defect causing lack of expression of the maternal copy of UBE3A, and mutations in the maternally inherited copy of UBE3A.
A therapeutic prospect is gene therapy, or the administration of an agent that safely and efficiently carries normal copies of the deficient gene to cells of the affected patient, thereby reconstituting normal or near-normal enzymatic competence.
The particular variation in the gene is common in the general population, with about a third of people inheriting both copies of the deficient gene variant from each of their parents.
