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Biomedical subjects

E V Charikova

Publications and source records attributed to E V Charikova.

6 recordsLinked to original sources
PubMed2000

[Aminoaciduria databases].

Electronic encyclopaedia of human hereditary disorders of amino acid metabolism (aminoacidurias) has been created. The disease inheritance, gene location, gene mutations, biochemistry, and gene therapy of aminoacidurias are described in most detail. The database (DB) is integrated with international DBs available in Internet. The electronic encyclopaedia may serve as an educational system connecting medicine with modern molecular genetics.

Amino Acid Metabolism, Inborn Errors↗
PubMed1983

[Mutagenic action of the DNA of the highly oncogenic bovine adenovirus type 3 (BAV-3)].

The induction of mutations to the 6-mercaptopurine resistance has been studied in Chinese hamster cells after transfection with highly oncogenic bovine adenovirus type 3 DNA (BAV-3). A statistically significant increase in the yield of resistant mutants is induced by viral DNA after two days expression time. The value of induction varies from 56,12 X 10(-5) to 70,02 X 10(-5). The comparison of the mutagenic activity of DNA and the intact viral particles has revealed that the number of DNA molecules must be higher than after infection with the whole virus to obtain a similar effect.

Adenoviridae↗
PubMedDate not supplied

Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.

Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408-56.4%; codon 158-8.1%; codon 261-3.2%, and IVS-12-16%.

Base Sequence↗
PubMedDate not supplied

Novel mutation identified in the PAH gene.

The investigation of a DNA-amplified fragment of a phenylketonuria (PKU) patient by sequencing reveals a novel mutation in the PAH gene. This mutation represents the deletion of a single base (guanine) localized at the intron 11/exon 12 junction. This newly described mutation may be a frameshift or a splicing mutation. The identified mutation expresses phenotypically as the severe form of PKU.

Amino Acid Sequence↗
PubMedDate not supplied

[The mutagenic action of the DNA fragments of bovine adenovirus type 3 (BAV-3) containing early E1 (oncogene) and E4 regions].

A study of mutagenic action of DNA fragments of bovine adenovirus type 3 (BAV-3), containing early E1 (oncogenic) and E4 regions has been carried out. Viral DNA was digested with Xba 1 restriction endonuclease. The mutagenic effect revealed itself by induction of resistance to 6-mercaptopurine in Chinese hamster cells. The data obtained suggest that the early regions E1 and E4 can cause mutagenic effect in mammalian cells.

Adenoviridae↗