Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
Get full text

ANALYSIS OF THE INTERACTIONS OF NEURONAL APOPTOSIS GENES IN THE ASSOCIATIVE GENE NETWORK OF PARKINSON’S DISEASE by M. A. Yankina, O. V. Saik, P. S. Demenkov, E. K. Khusnutdinova, E. I. Rogaev, I. N. Lavrik, V. А. Ivanisenko

“…We previously developed the ANDSystem tool, designed to automatically extract knowledge from scientific publications and reconstruct on this basis associative gene networks describing the molecular genetic mechanisms of biological processes. The aim of this work was prioritization of neuronal apoptosis genes by their involvement in PD pathogenesis, taking into account the structure of the PD associative gene network using ANDSystem. …”
Get full text

Study on early inflorescence development in bread wheat (T. aestivum L.) lines with non-standard SCR-morphotype by O. B. Dobrovolskaya, A. A. Krasnikov, K. I. Popova, P. Martinek, N. Watanabe

“…The SCR-lines characterized using light and scanning electron microscopy represent an important genetic resource for further study of the molecular-genetic mechanisms determining plant architecture. …”
Get full text

Agr-typing of methicillin-susceptible Staphylococcus aureus (MSSA) isolated from non-human primates by V. A. Kalashnikova

“…The present study is devoted to molecular genetic testing of S. aureus isolated from different biological samples taken from monkeys and is based on typing of agr polymorphic locus which acts as a regulator of pathogenic gene expression. …”
Get full text

Exploration of migration directions in different populations of Eothenomys miletus in the Hengduan Mountains of Yunnan Province: a genome-based analysis by Yanfei Cai, Ting Jia, Wanlong Zhu, Wanlong Zhu, Wanlong Zhu

“…Our results indicated that the ALS population is positioned at the base of the phylogenetic tree, and admixture analysis revealed that the ALS population is more closely related to the JC and DQ populations. Integrate the molecular genetic structure, fossil records of E. miletus as well as the results of our research, we inferred that the migration direction of E. miletus may have been from south to north, suggesting that the DQ and JC populations may have originated from the migration of ALS. …”
Get full text

Reconstruction of gene regulatory networks from single cell transcriptomic data by M. A. Rybakov, N. A. Omelyanchuk, E. V. Zemlyanskaya

“…Obtaining omics data for individual cells has made it possible to conduct large-scale molecular genetic studies with an extremely high resolution. …”
Get full text

Genetic diversity of Tulipa suaveolens Roth populations in Volgograd Province by T. A. Kritskaya, A. S. Kashin

“…In order to work out the strategy of the species’ preservation, evaluation of its intraand interpopulation polymorphism is required.Materials and methods. Molecular-genetic ISSR markers were used to analyze 125 samples from 10 populations of T. suaveolens occurring in Volgograd Province and 4 populations from Saratov Province.Results. …”
Get full text

The creation of new aneuploid lines of the cotton (Gossypium hirsutum L.) with identification of chromosomes by translocation and SSR-markers by M. F. Sanamyan, Sh. U. Bobokhujaev, A. X. Makamov, S. G. Achilov, I. Y. Abdurakhmonov

“…The use of monosomic lines significantly increases the effectiveness of molecular-genetic analysis and the development of superior quality breeding lines via substitutions by alien chromosomes. …”
Get full text

The Association between Gly460Trp-Polymorphism of Alpha-Adducin 1 Gene (ADD1) and Arterial Hypertension Development in Ukrainian Population by Svitlana Yermolenko, Yaroslav Chumachenko, Viktor Orlovskyi, Irina Moiseyenko, Oleksandr Orlovskyi

Get full text

Loeys-Dietz syndrome by Bogumiła Wójcik-Niklewska, Erita Filipek

“…A 6-year-old boy with Loeys-Dietz syndrome, confirmed by molecular genetic testing, presented with high myopia, subluxated lenses, dysmorphic features, and disorders of the osteoarticular and cardiovascular systems. …”
Get full text

Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome by Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato

Get full text

Conspectus of the genus <i>Juniperus</i> L. growing in Kazakhstan by M. M. Yermagambetova, S. I. Abugalieva, Ye. K. Turuspekov, Sh. S. Almerekova

“…Besides, the continuation of comprehensive botanical and molecular genetic studies on junipers will help to examine and preserve the genetic diversity of the species and conserve forest bioresources.…”
Get full text

A Biphasic Pleural Tumor with Features of an Epithelioid and Small Cell Mesothelioma: Morphologic and Molecular Findings by Sarah Hackman, Richard D. Hammer, Lester Layfield

“…Herein, we report novel complex CGH findings in a biphasic tumor and review the molecular genetic alterations in both mesothelioma and DSRCTs.…”
Get full text

DNA marker identification of downy mildew resistance locus <i>Rpv10</i> in grapevine genotypes by E. T. Ilnitskaya, M. V. Makarkina, S. V. Toкmakov, L. G. Naumova

“…The breeding of resistant cultivars is based on interspecific crossing. Currently, molecular genetic methods are increasingly used in pre-selection work and directly in breeding. …”
Get full text

<i>Bacillus anthracis</i> strain differentiation based on SNP and VNTR loci by E. A. Anisimova, N. A. Fakhrutdinov, D. A. Mirgazov, E. A. Dodonova, I. A. Elizarova, M. E. Gorbunova, N. I. Khammadov, L. I. Zainullin, K. A. Osyanin

“…In the study, seven strains of B. anthracis obtained from soil samples and animal carcasses were investigated using vaccine strain STI-1 as a reference. For molecular genetic characterization of these bacteria, analysis of 12 SNPs and variability analysis of eight VNTR loci were carried out. …”
Get full text

Techniques of blood sampling for detection of African swine fever virus in wild boar and domestic pigs in the field conditions by A. S. Pershin, A. R. Shotin, E. O. Morozova, A. S. Igolkin, O. A. Manuylova, I. V. Shevchenko, А. А. Shevtsov, N. N. Vlasova

“…To collect field samples of biological material from animals for molecular genetic, virological, and serological tests, filter paper, as well as swabs, can be used. …”
Get full text

Vaccine Prophylaxis of Pneumococcal Infections in Children under Conditions of Severe Flood in the Amur River Basin by Aleksandr G. Chuchalin, Gennadiy G. Onishchenko, Victor P. Kolosov, Olga P. Kurganova, Tatiana A. Zaitseva, Leonid G. Manakov, Galina N. Kholodok, Juliy M. Perelman, Roman S. Kozlov, Natalia M. Ivakhnishina, Olga E. Trotsenko, Albina P. Bondarenko

“…To study the circulation of serovariants of pneumococcus in inflammatory diseases of the respiratory tract and nasopharyngeal carrier, bacteriological and molecular genetic methods (RT-PCR in the mode of multiprime detection) were used. …”
Get full text

The auxin signaling pathway to its PIN transporters: insights based on a meta-analysis of auxin-induced transcriptomes by V. V. Kovrizhnykh, Z. S. Mustafin, Z. Z. Bagautdinova

“…The plasticity of auxin distribution is largely realized through the molecular genetic regulation of the expression of its transporters belonging to the PIN-FORMED (PIN) protein family. …”
Get full text

Invasive mosquito species Aedes albopictus and Aedes aegypti on the Black Sea coast of the Caucasus: genetics (COI, ITS2), Wolbachia and Dirofilaria infections by E. V. Shaikevich, I. V. Patraman, A. S. Bogacheva, V. М. Rakova, O. Р. Zelya, L. A. Ganushkina

“…The objective of the presented study was molecular-genetic identification of the Aedes mosquitoes collected in sampling sites on the Black Sea coast from 2007 to 2017; determination of genetic variability of Ae. aegypti, Ae. albopictus and their symbiotic bacteria Wolbachia; assessment of mosquitoes ability to be infected and to spread parasitic Dirofilaria. …”
Get full text

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss by Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze

“…The objective of this study was to study the audiological and molecular genetic characteristics of a large family with CEACAM16-associated autosomal dominant nonsyndromic hearing loss. …”
Get full text