The disease is typically caused by biallelic mutations in genes (branched-chain α-ketoacid dehydrogenase E1α (BCKDHA), E1β (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT ...

But in about 5% to 10% of cases, the cause is hereditary. This means that the cancer is due to a gene change, called a “mutation,” that’s passed down from a parent. Researchers have ...

Retinal dystrophy caused by biallelic variants in the AIPL1 gene ... Four children aged 1.0 to 2.8 years with confirmed AIPL1 mutations received a subretinal injection of rAAV8.hRKp.AIPL1 in ...

Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo ...

Chinese scientists have identified a new bat coronavirus, HKU5-CoV-2, capable of infecting humans—raising fresh concerns about potential future outbreaks. Chinese scientists have found a new bat ...

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 ...

Red arrows point to the individuals whom whole-exome sequencing was performed. Candidate mutations were validated by Sanger sequencing and the chromatograms were shown on the right. Red arrowheads ...

To infer the contribution of the Catalogue of Somatic Mutations in Cancer (COSMIC ... Phenotypic characteristics of the NTHL1 biallelic variant carriers. Patient #1 is a woman presenting the variant ...

Additionally, mRNA and protein levels were assessed through RT-qPCR and Western blotting. Results: The biallelic mutations in the first progenitor included a heterozygous deletion and insertion, ...