Biallelic genes, on the other hand, are much more evolutionarily conserved and are more likely to be associated with cell survival, Gregg explains, meaning they’re less likely to tolerate mutations.

More information: Francesco Saettini et al, Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia, Journal of Clinical Immunology (2024). DOI ...

Identification of constitutional biallelic mismatch repair gene mutations allows the avoidance of chemotherapeutic agents likely to be ineffective and mutagenic in the context of the underlying ...

A gene therapy to correct a mutation that causes maple syrup urine disease prevented newborn death and normalized growth in a calf as well as in mice.

ENPP1 Deficiency is an autosomal recessive disease and biallelic mutations are estimated to occur in approximately 1 in 64,000 pregnancies worldwide. Many individuals with just one copy of the ...

d, Biallelic silencing of both gene copies without LOH or gene mutation. e,f, Haploinsufficient tumor-suppressor genes do not need to lose both functional copies to confer increased risk.

A patient with biallelic TP53 mutations and a complex karyotype obtained CR. The third FLT3-WT patient experienced significant reductions in bone marrow leukemic blasts during Cycle 1 and remains ...

About OPGx-LCA5 OPGx-LCA5 is designed to address a form of Leber congenital amaurosis (LCA) due to biallelic mutations in the LCA5 gene (LCA5), which encodes the lebercilin protein. LCA5 ...