Evidence map›Paper›PMID 39881831›Full record

ArticleSovremennye tekhnologii v meditsine2024

Detection of Major Mutations in

A A Ivanova, N E Apartseva, A P Kashirina, E G Nemtsova, Y V Ivanova, M V Kruchinina, S A Kurilovich, V N Maksimov

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Sovremennye tekhnologii v meditsine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

A A IvanovaMD, PhD, Senior Researcher, Laboratory of Molecular Genetic Testing of Therapeutic Diseases; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
N E ApartsevaPhD Student, Junior Researcher, Laboratory of Genetic and Environmental Determinants of Human Life Cycle; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
A P KashirinaPhD Student, Junior Researcher, Laboratory of Genetic and Environmental Determinants of Human Life Cycle; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
E G NemtsovaMD, PhD, Associate Professor, Department of Propaedeutics of Internal Diseases, Gastroenterology, and Dietology named after S.M. Ryssa; North-Western State Medical University named after I.I. Mechnikov, 41 Kirochnaya St., Saint Petersburg, 191015, Russia.
Y V IvanovaResident; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
M V KruchininaMD, DSc, Associate Professor, Leading Researcher, Gastroenterology Laboratory; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
S A KurilovichMD, DSc, Professor, Head of Gastroenterology Laboratory; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.
V N MaksimovMD, DSc, Professor, Chief Researcher, Laboratory of Molecular Genetic Testing of Therapeutic Diseases; Institution of Internal and Preventive Medicine - Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 175/1 B. Bogatkova St., Novosibirsk, 630089, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Material and Methods: The study design is case-control. The group with Gilbert's syndrome (GS) phenotype (n=414; mean age - 36.7±15.9 years; 49.8% men) was formed by gastroenterologists, and included the individuals with unconjugated hyperbilirubinemia who underwent a standard clinical examination. The individuals with known causes of unconjugated hyperbilirubinemia were excluded from the group. The control group (n=429; mean age - 38.5±14.3 years; 52.2% men) was a random sampling from DNA banks of MONICA project participants, the screening of young people aged 25-44 and a one-time study of schoolchildren in Novosibirsk (Russia). DNA was isolated by phenol-chloroform extraction or by the express method (PROBA-RAPID-GENETIKA; DNA-Technology, Moscow, Russia) from venous blood. Genotyping of groups by nucleotide sequence rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) of Results: According to the genotypes and alleles of the variants rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) of Conclusion: Nucleotide sequence variants rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) of

Indexed as

alpha 1-AntitrypsinCystic Fibrosis Transmembrane Conductance RegulatorHemochromatosis ProteinMembrane ProteinsMutationPhenotypeAdultCase-Control StudiesFemaleHistocompatibility Antigens Class IHumansMaleMiddle Agedalpha 1-AntitrypsinCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorHemochromatosis ProteinHFE protein, humanHistocompatibility Antigens Class IMembrane ProteinsSERPINA1 protein, humanCFTRGilbert’s syndromeHFEnonconjugated hyperbilirubinemiaSERPINA1UGT1A1

Identifiers

PMID39881831
PMCPMC11773142

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.