Generation of the ICGi019-B-1 and ICGi019-B-2 lines via correction of the p.Met659Ile (c.1977G>A) variant in MYH7 of patient-specific induced pluripotent stem cells using CRISPR/Cas9 [0.03%]
使用CRISPR/Cas9在患者特异性诱导多能干细胞中校正MYH7基因的p.Met659Ile (c.1977G>A)变异以获得ICGi019-B-1和ICGi019-B-2品系
A E Shulgina,S V Pavlova,J M Minina et al.
A E Shulgina et al.
The problem of interpretation of the genetic data from patients with inherited cardiovascular diseases still remains relevant. To date, the clinical significance of approximately 40 % of variants in genes associated with inherited cardiovas...
From cytogenetics to proteogenomics: new horizons in the study of aneuploidies [0.03%]
从细胞遗传学到蛋白质基因组学：染色体非整倍性的研究新视野
K S Zadesenets,N B Rubtsov
K S Zadesenets
Aneuploidy is defined as the loss or gain of a whole chromosome or its region. Even at early stages of development, it usually leads to fatal consequences, including developmental defects/abnormalities and death. For a long time, it was bel...
Variability of carotenoid synthesis and degradation genes in Russian durum wheat cultivars [0.03%]
俄罗斯杜伦小麦品种类胡萝卜素合成和降解基因的可变性研究
A A Trifonova,K V Boris,L V Dedova et al.
A A Trifonova et al.
Yellow index is an important quality parameter of durum wheat cultivars, associated with carotenoid pigment content in grain and the level of carotenoid degradation during processing, and determining the yellow color of products made from d...
Deep learning approach to the estimation of the ratio of reproductive modes in a partially clonal population [0.03%]
深度学习估算部分无性繁殖种群有性生殖模式比率的方法
T A Nikolaeva,A A Poroshina,D Yu Sherbakov
T A Nikolaeva
Genetic diversity among biological entities, including populations, species, and communities, serves as a fundamental source of information for understanding their structure and functioning. However, many ecological and evolutionary problem...
K N Kozlov,M P Bankin,E A Semenova et al.
K N Kozlov et al.
A rapid growth of the available body of genomic data has made it possible to obtain extensive results in genomic prediction and identification of associations of SNPs with phenotypic traits. In many cases, to identify new relationships betw...
Methylation index of the DLK1 and MKRN3 genes in precocious puberty [0.03%]
DLK1和MKRN3基因甲基化程度与性早熟的关系研究
E A Sazhenova,O Yu Vasilyeva,D A Fedotov et al.
E A Sazhenova et al.
Precocious puberty (PP, OMIM 176400, 615346) is an autosomal dominant disorder caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, epigenetic, and environmental factors play a decisive role in determini...
Great Bolgar's historical genetics: a genomic study of individuals from burials close to the Greek Chamber in the 14th century [0.03%]
大博格拉尔的历史遗传学：希腊宫殿附近14世纪埋葬个体的基因组研究
T V Andreeva,A D Soshkina,S S Kunizheva et al.
T V Andreeva et al.
Bolgar was one of the most significant mediaeval cities in Eastern Europe. Before the Mongol conquest, it served as a major administrative centre of Volga Bulgaria, and after 1236, it temporarily functioned as the capital of the Golden Hord...
The key role of heterochromatin in the phenotypic manifestation of the In(1)sc8 inversion disrupting the achaete-scute complex in Drosophila melanogaster [0.03%]
异染色质在调节果蝇(Drosophila melanogaster)中破坏achaete-scute复合体的倒位(In(1)sc8)表型作用中的关键作用
T D Kolesnikova,M N Balantaeva,G V Pokholkova et al.
T D Kolesnikova et al.
The achaete-scute complex (AS-C) is a locus approximately 90 kbp in length, containing multiple enhancers. The local expression of the achaete and scute genes in proneural clusters of Drosophila melanogaster imaginal discs results in the fo...
T R Kudriashova,A A Kryukov,A I Gorenkova et al.
T R Kudriashova et al.
Global losses of agricultural products from water scarcity could be greater than from all other causes combined. Water deficiency in plants can result from insufficient precipitation, elevated air temperatures, and other factors that reduce...
Vitamin C content and profile of ascorbate metabolism gene expression in green leaves and bleached parts of the pseudostem of leek (Allium porrum L.) F1 hybrids [0.03%]
西兰花F1杂种绿色叶片和假茎白化部分的维生素C含量及抗坏血酸代谢基因表达模式分析
M A Filyushin,T M Seredin,A V Shchennikova et al.
M A Filyushin et al.
Leek (Allium porrum L.) is an economically important vegetable crop of the family Amaryllidaceae with a wide range of medicinal and nutritional properties, in part due to the accumulation of vitamin C (L-ascorbic acid, ascorbate). Ascorbate...