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Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Stem cell research

Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA.
PMID: 34736038
Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30.

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment of copper-transporting ATPase, which is encoded by the ATP7B gene. In this study, PBMCs of a...

Cite
Zhigalina DI, Malakhova AA, Vasilyeva OY, et al. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021;57:102556doi: 10.1016/j.scr.2021.102556.
Zhigalina, D. I., Malakhova, A. A., Vasilyeva, O. Y., Grigor'eva, E. V., Sivtsev, A. A., Kolesnikov, N. A., Lopatkina, M. E., Savchenko, R. R., Zhalsanova, I. Z., Postrigan', A. E., Zarubin, A. A., Nikitina, T. V., Bueverov, A. O., Bogomolov, P. O., Zakian, S. M., & Skryabin, N. A. (2021). Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem cell research, 57102556. https://doi.org/10.1016/j.scr.2021.102556
Zhigalina, D I, et al. "Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene." Stem cell research vol. 57 (2021): 102556. doi: https://doi.org/10.1016/j.scr.2021.102556
Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30. PMID: 34736038.
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NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.

Journal of assisted reproduction and genetics

Sazhenova EA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Yuryev SY, Skryabin NA, Zarubin AA, Kolesnikov NA, Stepanov VA, Lebedev IN.
PMID: 34554362
J Assist Reprod Genet. 2021 Nov;38(11):2893-2908. doi: 10.1007/s10815-021-02312-z. Epub 2021 Sep 23.

PURPOSE: Comparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL) and identification of variants in the imprinting control gene NLRP7 that may lead to MLIDs.METHODS: Chorionic cytotrophoblast and extraembryonic...

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Sazhenova EA, Nikitina TV, Vasilyev SA, et al. NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss. J Assist Reprod Genet. 2021;38(11):2893-2908doi: 10.1007/s10815-021-02312-z.
Sazhenova, E. A., Nikitina, T. V., Vasilyev, S. A., Tolmacheva, E. N., Vasilyeva, O. Y., Markov, A. V., Yuryev, S. Y., Skryabin, N. A., Zarubin, A. A., Kolesnikov, N. A., Stepanov, V. A., & Lebedev, I. N. (2021). NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss. Journal of assisted reproduction and genetics, 38(11), 2893-2908. https://doi.org/10.1007/s10815-021-02312-z
Sazhenova, Elena A, et al. "NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss." Journal of assisted reproduction and genetics vol. 38,11 (2021): 2893-2908. doi: https://doi.org/10.1007/s10815-021-02312-z
Sazhenova EA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Yuryev SY, Skryabin NA, Zarubin AA, Kolesnikov NA, Stepanov VA, Lebedev IN. NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss. J Assist Reprod Genet. 2021 Nov;38(11):2893-2908. doi: 10.1007/s10815-021-02312-z. Epub 2021 Sep 23. PMID: 34554362; PMCID: PMC8608992.
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Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter.

MethodsX

Vasilyev SA, Markov AV, Vasilyeva OY, Tolmacheva EN, Zatula LA, Sharysh DV, Zhigalina DI, Demeneva VV, Lebedev IN.
PMID: 34434857
MethodsX. 2021 Jul 06;8:101445. doi: 10.1016/j.mex.2021.101445. eCollection 2021.

The methylation index of the LINE-1 promoter is one of the most commonly used markers for assessing the global level of genome methylation in various human cells and tissues. We developed an NGS-based protocol for DNA methylation analysis of...

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Vasilyev SA, Markov AV, Vasilyeva OY, et al. Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter. MethodsX. 2021;8:101445doi: 10.1016/j.mex.2021.101445.
Vasilyev, S. A., Markov, A. V., Vasilyeva, O. Y., Tolmacheva, E. N., Zatula, L. A., Sharysh, D. V., Zhigalina, D. I., Demeneva, V. V., & Lebedev, I. N. (2021). Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter. MethodsX, 8101445. https://doi.org/10.1016/j.mex.2021.101445
Vasilyev, Stanislav A, et al. "Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter." MethodsX vol. 8 (2021): 101445. doi: https://doi.org/10.1016/j.mex.2021.101445
Vasilyev SA, Markov AV, Vasilyeva OY, Tolmacheva EN, Zatula LA, Sharysh DV, Zhigalina DI, Demeneva VV, Lebedev IN. Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter. MethodsX. 2021 Jul 06;8:101445. doi: 10.1016/j.mex.2021.101445. eCollection 2021. PMID: 34434857; PMCID: PMC8374674.
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Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Stem cell research

Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA.
PMID: 34736038
Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30.

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment of copper-transporting ATPase, which is encoded by the ATP7B gene. In this study, PBMCs of a...

Cite
Zhigalina DI, Malakhova AA, Vasilyeva OY, et al. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021;57:102556doi: 10.1016/j.scr.2021.102556.
Zhigalina, D. I., Malakhova, A. A., Vasilyeva, O. Y., Grigor'eva, E. V., Sivtsev, A. A., Kolesnikov, N. A., Lopatkina, M. E., Savchenko, R. R., Zhalsanova, I. Z., Postrigan', A. E., Zarubin, A. A., Nikitina, T. V., Bueverov, A. O., Bogomolov, P. O., Zakian, S. M., & Skryabin, N. A. (2021). Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem cell research, 57102556. https://doi.org/10.1016/j.scr.2021.102556
Zhigalina, D I, et al. "Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene." Stem cell research vol. 57 (2021): 102556. doi: https://doi.org/10.1016/j.scr.2021.102556
Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30. PMID: 34736038.
Copy Download .nbib Format: NLM
Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Stem cell research

Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA.
PMID: 34736038
Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30.

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment of copper-transporting ATPase, which is encoded by the ATP7B gene. In this study, PBMCs of a...

Cite
Zhigalina DI, Malakhova AA, Vasilyeva OY, et al. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021;57:102556doi: 10.1016/j.scr.2021.102556.
Zhigalina, D. I., Malakhova, A. A., Vasilyeva, O. Y., Grigor'eva, E. V., Sivtsev, A. A., Kolesnikov, N. A., Lopatkina, M. E., Savchenko, R. R., Zhalsanova, I. Z., Postrigan', A. E., Zarubin, A. A., Nikitina, T. V., Bueverov, A. O., Bogomolov, P. O., Zakian, S. M., & Skryabin, N. A. (2021). Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem cell research, 57102556. https://doi.org/10.1016/j.scr.2021.102556
Zhigalina, D I, et al. "Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene." Stem cell research vol. 57 (2021): 102556. doi: https://doi.org/10.1016/j.scr.2021.102556
Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem Cell Res. 2021 Sep 30;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30. PMID: 34736038.
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Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease.

Stem cell research

Malakhova AA, Grigor'eva EV, Vasilyeva OY, Zhigalina DI, Skryabin NA, Sivtcev AA, Kolesnikov NA, Bueverov AO, Lebedev IN, Bogomolov PO, Zakian SM.
PMID: 32738633
Stem Cell Res. 2020 Jul 25;47:101922. doi: 10.1016/j.scr.2020.101922. Epub 2020 Jul 25.

Wilson's disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson's disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease...

Cite
Malakhova AA, Grigor'eva EV, Vasilyeva OY, et al. Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem Cell Res. 2020;47:101922doi: 10.1016/j.scr.2020.101922.
Malakhova, A. A., Grigor'eva, E. V., Vasilyeva, O. Y., Zhigalina, D. I., Skryabin, N. A., Sivtcev, A. A., Kolesnikov, N. A., Bueverov, A. O., Lebedev, I. N., Bogomolov, P. O., & Zakian, S. M. (2020). Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem cell research, 47101922. https://doi.org/10.1016/j.scr.2020.101922
Malakhova, A A, et al. "Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease." Stem cell research vol. 47 (2020): 101922. doi: https://doi.org/10.1016/j.scr.2020.101922
Malakhova AA, Grigor'eva EV, Vasilyeva OY, Zhigalina DI, Skryabin NA, Sivtcev AA, Kolesnikov NA, Bueverov AO, Lebedev IN, Bogomolov PO, Zakian SM. Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem Cell Res. 2020 Jul 25;47:101922. doi: 10.1016/j.scr.2020.101922. Epub 2020 Jul 25. PMID: 32738633.
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[Features of pulmonary thromboembolism in women].

Kardiologiia

Vasiltseva OY, Vitt KN, Cherniavsky AM.
PMID: 34882082
Kardiologiia. 2021 Nov 30;61(11):89-97. doi: 10.18087/cardio.2021.11.n1147.

Pulmonary artery embolism (PAE) is usually a diagnosis of exclusion. Verification of a more common pathology takes time, which may become critical for treatment of pulmonary embolism and saving the patient's life. Since PAE is an acute disease, the...

Cite
Vasiltseva OY, Vitt KN, Cherniavsky AM. [Features of pulmonary thromboembolism in women]. Kardiologiia. 2021;61(11):89-97doi: 10.18087/cardio.2021.11.n1147.
Vasiltseva, O. Y., Vitt, K. N., & Cherniavsky, A. M. (2021). [Features of pulmonary thromboembolism in women]. Kardiologiia, 61(11), 89-97. https://doi.org/10.18087/cardio.2021.11.n1147
Vasiltseva, O Ya, et al. "[Features of pulmonary thromboembolism in women]." Kardiologiia vol. 61,11 (2021): 89-97. doi: https://doi.org/10.18087/cardio.2021.11.n1147
Vasiltseva OY, Vitt KN, Cherniavsky AM. [Features of pulmonary thromboembolism in women]. Kardiologiia. 2021 Nov 30;61(11):89-97. doi: 10.18087/cardio.2021.11.n1147. Russian. PMID: 34882082.
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