EnhancingCasexpression is primarily achieved through the use of strong or constitutive promoters, such as the CaMV 35S fromCauliflower Mosaic Virusand various plant ubiquitin promoters. In Arabidopsis, theYAOpromoter has been shown to drive Cas9 expression more effectively than the CaMV 35S promoter (...
Gaucher disease (GD) is an inherited metabolic disorder caused by biallelic mutations in the GBA1 gene. GBA1 encodes the glucocerebrosidase (GCase) enzyme, which catalyses the hydrolysis of glucosylceramide into ceramide and glucose. Macrophages engorged with aberrant lysosomes, as a result of the ...
HNF1α-mutated HCA are most of the time, highly steatotic, with a lack of expression of liver fatty acid binding protein (LFABP) in immunohistochemistry analyses. Adenomatosis is frequently detected in this context. An HNF1α germline mutation is observed in less than 5% of HCA cases and ...
The HRD rate in the Russian population is very similar to those of other European populations, as is the BRCA mutation frequency. The most substantial contribution to HRD level diversity is testing criteria depending on intrahospital arrangements. The analysis shows that biallelic BRCA alterations had...
Secondly, the 125 genes with recurrent mutations were assessed for the proportion of cases with biallelic mutation, including by homozygous deletion from SNP array data. For genes with mutations in three or more cases, the proportion of biallelic mutations was greater than 80 % of mutated samples...
In general, GISTs are heterozygous for a given mutation; however, in B15% of tumors the remain- ing wild-type KIT allele is lost and this is associated with malignant behavior.29,34–36 In serial samples from individual patients, Chen et al36 have provided evidence that this occurs through...
1 Although VWD is expected to affect men and women equally, there are more women diagnosed with VWD because of gynecological-related hemostatic challenges. The real prevalence of VWD has been a matter of debate for many years, ranging from as high as 1.3%, when taking into account ...
Very low-density lipoprotein (VLDL) is produced by the liver, contains ApoB100, and is metabolized into its remnants, intermediate-density lipoprotein (IDL) and low-density lipoprotein (LDL). ApoB100 has been suggested to play a crucial role in the formation of the atherogenic plaque. Apart ...
Hypersexuality is, however, not part of the spectrum of Cockayne syndrome. We, therefore, searched for alternative explanations, such as drug side effects. As increased libido can be a side effect of methylphenidate, this was tapered. His hypersexuality disappeared and the bilateral orchidectomy ...
inherited retinal diseases, said that the main objective will be to establish the safety and efficacy of a unilateral subretinal injection of the product in patients with a retinitis pigmentosa caused by biallelic mutations in the PDE6B gene, which can lead to a defective expression of the PDE6B...