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Inna E. Pristyazhnyuk
Russian Academy of Sciences
21Publications
5H-index
101Citations
Publications 21
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#1Inna E. Pristyazhnyuk (RAS: Russian Academy of Sciences)H-Index: 5
#2J.M. Minina (RAS: Russian Academy of Sciences)H-Index: 6
Last.Oleg L. Serov (NSU: Novosibirsk State University)H-Index: 12
view all 10 authors...
In a previous study using one-step CRISPR/Cas9 genome editing in mouse zygotes, we created five founders carrying a 1,137 kb deletion and two founders carrying the same deletion, plus a 2,274 kb duplication involving the Cntn6 gene (encoding contactin-6). Using these mice, the present study had the following aims: (i) to establish stage of origin of these rearrangements; (ii) to determine the fate of the deleted DNA fragments; and (iii) to estimate the scale of unpredicted DNA changes accompanyi...
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#1T. A. ShnaiderH-Index: 1
Last.O.L. Serov (NSU: Novosibirsk State University)H-Index: 5
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Abstract The human induced pluripotent stem cell (iPSC ) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with intellectual disability. Both patients were carriers of CNTN6 gene microdeletion(Kashevarova et al., 2014). iPSC lines have normal karyotype, express pluripotency markers, are able to differentiate in vitro into derivatives of all three germ layers and represent a unique tool to study neurodevelopmental disorders.
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#1M.M. GridinaH-Index: 4
#2T.V. NikitinaH-Index: 3
Last.O.L. SerovH-Index: 5
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Abstract The 3p26.3 microduplication involving the CNTN6 gene cause developmental delay and the intellectual disability. However, the incomplete penetrance is described for this copy number variation (CNV). Here we describe ICAGi002-A line, which is supposed to use as a model for studying of the penetrance of the CNV in 3p26.3. The ICAGi002-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a healthy donor with 3p26.3 microduplication involving the CNTN6 gene. The ICAGi0...
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#1Aleksei G. Menzorov (NSU: Novosibirsk State University)H-Index: 4
#2Konstantin E. Orishchenko (Immanuel Kant Baltic Federal University)H-Index: 8
Last.Oleg L. Serov (NSU: Novosibirsk State University)H-Index: 12
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#1Anna A. Torgasheva (NSU: Novosibirsk State University)H-Index: 6
#2Lyubov P. Malinovskaya (NSU: Novosibirsk State University)H-Index: 2
Last.Pavel M. Borodin (NSU: Novosibirsk State University)H-Index: 22
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An unusual supernumerary chromosome has been reported for two related avian species, the zebra and Bengalese finches. This large, germline-restricted chromosome (GRC) is eliminated from somatic cells and spermatids and transmitted via oocytes only. Its origin, distribution among avian lineages, and function were mostly unknown so far. Using immunolocalization of key meiotic proteins, we found that GRCs of varying size and genetic content are present in all 16 songbird species investigated and ab...
3 CitationsSource
#1A.A. KhabarovaH-Index: 4
Last.O.L. SerovH-Index: 5
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Abstract Skin fibroblasts from a patient with developmental delay and chromosome 2p25.3 deletion syndrome were reprogrammed into induced pluripotent stem cells (iPSCs) and the clonal stem cell line ICAGi001-A (iTAF9-11) was established. ICAGi001-A pluripotency was demonstrated in vitro by three germ layer differentiation capacity. This line is a good model for studying of the developmental delay and brain disorder.
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#1T.V. NikitinaH-Index: 3
#2A.G. Menzorov (NSU: Novosibirsk State University)H-Index: 3
Last.Igor N. Lebedev (Siberian State Medical University)H-Index: 9
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Abstract Skin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs and ring chromosome 13 were reprogrammed into induced pluripotent stem cells (iPSCs) to generate a clonal stem cell line IMGTi003-A (iTAF6-6). IMGTi003-A pluripotency was demonstrated by three germ layer differentiation capacity in vitro , and this cell line had a mosaic karyotype with 46,XY,r(13) as a predominant cell subpopulat...
1 CitationsSource
#1Anna A. Torgasheva (RAS: Russian Academy of Sciences)H-Index: 6
#2Lyubov P. Malinovskaya (RAS: Russian Academy of Sciences)H-Index: 2
Last.Pavel M. Borodin (RAS: Russian Academy of Sciences)H-Index: 22
view all 13 authors...
The genome of flying birds, the smallest among amniotes, reflects overweight of the extensive DNA loss over the unrestricted proliferation of selfish genetic elements, resulted in a shortage of repeated sequences and lack of B-chromosomes. The only exception of this rule has been described in zebra finch, which possesses a large germ-line restricted chromosome (GRC), transmitted via oocytes, eliminated from male postmeiotic cells and absent in somatic cell. It is considered as a rarity and its o...
4 CitationsSource
#1M.M. GridinaH-Index: 4
#2N. M. MatveevaH-Index: 9
Last.O.L. Serov (NSU: Novosibirsk State University)H-Index: 5
view all 17 authors...
Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human neuropathologies is associated with the inaccessibility of brain material. This problem can b...
9 CitationsSource
#1Inna E. Pristyazhnyuk (RAS: Russian Academy of Sciences)H-Index: 5
#2Aleksei G. Menzorov (NSU: Novosibirsk State University)H-Index: 4
Ring chromosomes (RCs) are circular DNA molecules, which occur rarely in eukaryotic nuclear genomes. Lilian Vaughan Morgan first described them in the fruit fly. Human embryos very seldom have RCs, about 1:50,000. Carriers of RCs may have varying degrees of symptoms, from healthy phenotype to serious pathologies in physical and intellectual development. Many authors describe common symptoms of RC presence: short stature and some developmental delay that could be described as a “ring chromosome s...
5 CitationsSource
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