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461
Polymorphism of renin — angiotensin system genes in progression of liver fibrosis in patients with chronic hepatitis C
Published 2014-08-01“…Assessment of polymorphism of studied genes was carried out by molecular genetic methods.Results. In CHC patients of «rapidly progressing fibrosis» group in comparison to «slowly progressing fibrosis» group minor A-allele (50,0 and 33,3% respectively, p=0,0126) and «mutant» АА-genotype (27,3 and 11,1%, р=0,0324; OR АА=3,00; 95% CI 1,07-8,45), AGT gene on locus G-6A, as well as minor T-allele (р=0,0407) of AGT gene in M235T locus were significantly more common while MM genotype of M235T polymorphism of AGT gene (20,8 and 44,4%, respectively, p=0,0090; OR MM=0,33; 95%-CI 0,15–0,73) were significant less frequent. …”
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462
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands
Published 2025-01-01“…Abstract Background The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P. …”
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463
Genetic structure of the population of wild-growing vines of the Utrish Nature Reserve
Published 2023-07-01“…During the survey of the territory, 24 samples of wild grapes were found, which were described according to the main morphological characteristics and analyzed by the molecular genetic method. The found vines were genotyped using 15 DNA markers, including nine commonly used for DNA fingerprinting (VVS2, VVMD5, VVMD7, VVMD25, VVMD27, VVMD28, VVMD32, VrZAG62, VrZAG79) and VVIb23, which allows determining hermaphrodite and dioecious vines. …”
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464
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families
Published 2025-01-01“…Conclusions This study comprehensively analyzed the genetics of suspected familial SMA cases in the Chinese population, providing insights into the molecular genetic mechanisms of SMA and the utility of various detection techniques. …”
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465
<i>MTHFR</i> Gene Polymorphisms and Cancer Risk in Children and Adolescents: A Systematic Review and Meta-Analysis
Published 2025-01-01“…<b>Methods:</b> After a systematic search of all of the available data, original case–control studies involving children or adolescents with a confirmed diagnosis of any type of cancer and a molecular genetic test of <i>MTHFR</i> gene polymorphisms were included. …”
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466
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
Published 2020-01-01“…The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. …”
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467
Allelic diversity of genes controlling responses to vernalization and photoperiod among spring bread wheat varieties of diverse geographic origin
Published 2020-01-01“…Spring bread wheat is the most important cereal crop, cultivated under various climatic conditions and on different latitudes. Modern molecular genetic studies of wheat are aimed at investigating the crop’s genetic potential. …”
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468
Development and validation of highly sensitive multiplex real-time RT-PCR assay for detection of classical swine fever virus genome
Published 2024-09-01“…A set of anti-epidemic measures including mainly preventive vaccination and annual diagnostic monitoring using molecular-genetic and serological methods is required for CSF virus introduction prevention and rapid eradication of potential disease out breaks. …”
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469
The problem of conservation of gene pools of domesticated animals
Published 2017-07-01“…Breeding is only possible while main-taining its inter- and interbreed genetic diversity, which can be identified through using various molecular genetic techniques. The examples of using new genetic technologies while preserving local breeds of two domesticated species are provided: sheep (Ovis aries) and cattle (Bos taurus). …”
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470
Enzyme-linked immunosorbent assay for post-slaughter diagnosis of bovine leukosis
Published 2024-06-01“…Postmortem diagnosis of enzootic bovine leukosis is made on the basis of the results of tests of biological materials from emergently slaughtered or fallen animals using pathomorphological, histological and molecular genetic methods that have some disadvantages. …”
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471
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review
Published 2025-01-01“…ObjectiveOur objective was to examine the clinical and genetic features of Coffin-Siris syndrome resulting from a pathogenic variant in the SMARCA4 gene.MethodsThe clinical data and molecular genetic test results of a newbron with Coffin-Siris syndrome involving a pathogenic variant in the SMARCA4 gene were retrospectively analyzed, and the related literatures were reviewed.ResultsA newborn exhibited inspiratory dyspnea following birth and developmental anomalies (coarse appearance, thick hair, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, thick lower lip, digital anomalies, cleft palate, supraglottic laryngeal chondromalacia, stenosis of the left upper bronchus and hypotonia). …”
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472
Genes of Inflammation and Placental Function GWAS Associated with Idiopathic Recurrent Miscarriage in the Kazakh Population
Published 2024-01-01“…Materials and Methods: Molecular genetic studies were performed by TaqMan using a single site-specific amplification and real-time genotyping method in 302 women with iRM and 300 with normal reproduction. …”
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473
Polymorphism of monogenic scab resistance loci in apple varieties
Published 2020-04-01“…The present study shows the results of the molecular genetic analysis of apple varieties, targeted at the Rvi2, Rvi4, Rvi6 and Rvi8 monogenic scab resistance loci.Materials and methods. …”
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474
Nuclear and chloroplast genome variability in leek (Allium porrum L.)
Published 2019-11-01“…Despite a high importance of leek as a vegetable, this species is rarely the subject of molecular genetic studies. The genetic diversity of leeks has never been studied before. …”
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475
Lodging in wheat: genetic and environmental factors and ways of overcoming
Published 2020-07-01“…The content of lignin, silicon and cellulose are important structural components and provide the stem strength of wheat plants. Molecular genetic analysis and mapping of genes and quantitative trait loci are of great importance in identifying the genetic basis of the relationship between the anatomical and morphophysiological characters of the stem and root system and lodging. …”
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476
Molecular Epidemiology of Human Norovirus Variants from Outbreaks in Zhejiang Province, China, during 2021
Published 2024-01-01“…The aim of this study was to determine the molecular epidemiological characteristics of norovirus outbreaks and the molecular genetic features of norovirus in Zhejiang Province during 2021. …”
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477
TCF7L2 gene polymorphism in populations of f ive Siberian ethnic groups
Published 2022-04-01“…A further study of population structure with respect to different metabolic prof ile genes is required to better understand the molecular genetic foundations of the adaptive potential of indigenous Siberian peoples.…”
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478
RESISTANCE TO THE BLAST AGENT AND THE MORPHOBIOLOGICALFEATURES OF GENOTYPES IN THE Oryza sativa L. COLLECTION FROM VARIOUS ECOLOGICAL AND GEOGRAPHICAL GROUPS IN CONDITIONS OF КUBAN...
Published 2018-03-01“…As a result of the evaluation of plant resistance to the Krasnodar population of the pathogen, the effective genes for resistance to the pathogen for breeding programs of the south of Russia and the molecular genetic analysis of the rice collection variety were determined: Pi-1, Pi-z, Pi-ta, Pi-z5, Pi-9, Pi-5(t), Pi-t, Pi-19.…”
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479
Epigenetics of suicidal behavior
Published 2019-08-01“…The study of genetic liability to suicidal behavior is based on molecular-genetic methods including association and linkage analyses, chip gene expression arrays, and genome-wide association studies. …”
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480
Investigation of criminal offences against property: typical investigative situations and problems of applying specialised knowledge
Published 2023-07-01“…It has been established that these include commodity, trace, fingerprint, portrait, molecular genetic, video and sound recording examinations. …”
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