Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, Li CY, Wadleigh M, Lee SJ, Gilliland DG (2006) The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 106(3):631-635...
Differentiating homozygous, heterozygous and wild-type alleles using a multiplexed hybridization-mediated assayDescribed are methods of assay design and assay image correction, useful for multiplexed genetic screening for mutations and polymorphisms, including CF-related mutants and polymorphs, using an array...
X-irradiation induces up- regulation of ATM gene expression in wild-type lymphoblastoid cell lines, but not in their heterozygous or homozygous ataxia-telangiectasia counterparts. Jpn. J. Cancer Res. 2001; 92(6): 710-717. [PubMed: 11429062]...
Expression of human wild-type TDP-43 (TDP-43WT) caused no clinical or pathological phenotype, while expression of Q331K mutant (TDP-43Q331K) resulted in a non-lethal age-dependent motor phenotype, accompanied by cytoplasmic TDP-43 aggregation, mild neuronal loss, with astroglial and microglial...
In addition, since inheritance of the modified Ddx1* allele occurs in both heterozygous (Ddx1*/2) and homozygous wild-type (Ddx1*/*) progeny, the allele must be transgenerationally maintained. The most common form of epigenetic transgenerational modification in mice is genomic imprinting. Genomic...
11.1% of the wild boars from South East Europe were of the heterozygous C/T genotype. When we genotyped the wild boar and domestic pig individuals for SNP g.299084751 C > T by HRM anal- ysis, we also detected the T allele not only in domestic pigs but also in some wild boars...
Primary cortical astrocytes were isolated from normal (+/+), heterozygous (+/-), or homozygous (-/-) p53-knockout mice. The normal astrocytes grew slowly and underwent crisis after limited division, while the homozygously defective cells grew rapidly and without contact inhibition. These -/- ...
This permits unique labeling of specific homozygous daughter cells, and thus makes mosaic analysis possible in the complex nervous system. The principle of MARCM involves the generation of GAL80-minus homozygous daughter cells in otherwise heterozygous tissues, therefore allowing GAL4-dependent activation...
One eye of wild-type, Atm heterozygous and homozygous knockout mice was exposed to 0.5-, 1.0-, 2.0-, or 4.0-Gy x rays. The animals were followed weekly for cataract development by conventional slit-lamp biomicroscopy. Cataract development in the animals of all three groups was strongly ...
1), evaluating interactions within wt- and mut-AQP2 forms so to mimic true heterozygous or homozygous conditions commands the use of equivalent mRNA loads. Although readily achievable in oocytes (mRNA injections), the same cannot be said with dual transfections using cell line models. For that ...