- adj. Involving a single allele
“RAD51C in a Fanconi anemia-like disorder, while a second study reports monoallelic mutations in the same gene associated with increased breast cancer …”
“In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in”
“PTPN2 in individuals 1 to 7, and monoallelic deletion of”
“To understand some of the mechanisms involved, we examined the role of monoallelic loss or Atm and Brca1 on cell transformation and apoptosis induced by radiation.”
“For each parameter set a random initial condition was chosen, and the biallelic and monoallelic equations were integrated numerically until a stable state was reached.”
“The classical concepts of dominant or additive gene actions do not follow from whether the monoallelic contributions of the two different alleles in the heterozygote act in an additive way or not, but are given by a specific relationship between the degree of allele interaction for all the three genotypes.”
“In order to avoid null alleles, datasets in which one of the homozygotes gave a steady state level was set equal to zero if the sum of the monoallelic phenotypes differed less than 5% from the biallelic phenotype.”
“Three of the affected females had a monoallelic homozygous mutation, four had heterologous or mosaicism biallelic mutations, and the remainder had three different mosaic mutations.”
“Furthermore, the occurrence of monoallelic maternal expression of STAT5A was significantly higher in blastocysts, while paternal expression was more frequent in degenerative embryos.”
“Results: We found three patients with moderate to severe CH who had biallelic mutations in TSHR and three patients with mild CH who had monoallelic mutations.”
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