Search Results - "Zhigalina, D. I."

Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss by Nikitina, T. V., Sazhenova, E. A., Zhigalina, D. I., Tolmacheva, E. N., Sukhanova, N. N., Lebedev, I. N.

“…Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of…”
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Generation of an Induced Pluripotent Stem Cell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient by Zhigalina, D. I., Kireeva, T. N., Nikitina, T. V., Odinokova, O. N., Kolesnikov, N. A., Malakhova, A. A., Savchenko, R. R., Zhalsanova, I. Zh, Valiahmetov, N. R., Postrigan, A. E., Vovk, S. L., Torkhova, N. B., Frolova, A. A., Stepanov, V. A., Skryabin, N. A.

“…Cystic fibrosis (CF) is a hereditary disease that leads to impaired functioning of chloride channels in cells, and, as a result, to a decrease in the…”
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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 by Zhigalina, D.I., Malakhova, A.A., Vasilyeva, O.Yu, Grigor'eva, E.V., Sivtsev, A.A., Kolesnikov, N.A., Lopatkina, M.E., Savchenko, R.R., Zhalsanova, I.Zh, Postrigan', A.E., Zarubin, A.A., Nikitina, T.V., Bueverov, A.O., Bogomolov, P.O., Zakian, S.M., Skryabin, N.A.

“…Wilson’s disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment…”
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Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson’s disease by Malakhova, A.A., Grigor'eva, E.V., Vasilyeva, O.Yu, Zhigalina, D.I., Skryabin, N.A., Sivtcev, A.A., Kolesnikov, N.A., Bueverov, A.O., Lebedev, I.N., Bogomolov, P.O., Zakian, S.M.

“…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…”
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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by Skryabin, N. A., Vasilyev, S. A., Nikitina, T. V., Zhigalina, D. I., Savchenko, R. R., Babushkina, N. P., Lopatkina, M. E., Kashevarova, A. A., Lebedev, I. N.

“…Recurrent pregnancy loss (RPL) is a severe reproductive pathology with a significant component of unexplained etiology. Extended homozygous regions as a…”
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Molecular karyotyping of cell-free DNA from blastocoele fluid as a basis for noninvasive preimplantation genetic screening of aneuploidy by Skryabin, N. A, Lebedev, I. N, Artukhova, V. G, Zhigalina, D. I, Stepanov, I. A, Krivoschekova, G. V, Svetlakov, A. V

“…The discovery of cell-free DNA in the blastocoele fluid is promising for the development of new noninvasive methods for the preimplantation genetic diagnosis…”
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Molecular Karyotyping of Cell-Free DNA from Blastocoele Fluid as a Basis for Noninvasive Preimplantation Genetic Screening of Aneuploidy by Skryabin, N A, Lebedev, I N, Artukhova, V G, Zhigalina, D I, Stepanov, I A, Krivoschekova, G V, Svetlakov, A V

“…The discovery of DNA fragments in the blastocoele fluid is promising for the development of new noninvasive methods for the preimplantation genetic diagnosis…”
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Preimplantation genetic diagnosis by blastocentesis: Problems and perspectives by Zhigalina, D. I., Skryabin, N. A., Artyukhova, V. G., Svetlakov, A. V., Lebedev, I. N.

“…The discovery of cell-free DNA in blastocoele fluid opens new perspectives for the development of preimplantation genetic diagnosis of human chromosomal and…”
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The ATOX1 Gene Role in Copper Metabolism and the Pathogenesis of Copper-Induced Diseases by Zhalsanova, I. Zh, Fonova, E. A., Zhigalina, D. I., Skryabin, N. A.

“…The ATOX1 (Antioxidant Protein 1) is a human copper metal chaperone that plays an important role in cellular copper homeostasis. The protein is responsible for…”
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The Role of Splicing in the Pathogenesis of Monogenic Diseases by Skryabin, N. A., Zhigalina, D. I., Stepanov, V. A.

“…Despite the development of exome and whole genome sequencing technologies and their routine use in the diagnosis of hereditary diseases, the efficiency of…”
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Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions by Kashevarova, A. A., Skryabin, N. A., Nikitina, T. V., Lopatkina, M. E., Sazhenova, E. A., Zhigalina, D. I., Savchenko, R. R., Lebedev, I. N.

“…Using chromosome microarray analysis, 52 samples of placental tissues from first trimester human spontaneous abortions were examined. One hundred twenty copy…”
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FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR by Zhigalina, D. I., Skryabin, N. A., Vasilieva, O. Y., Lopatkina, M. E., Vasiliev, S. A., Sivokha, V. M., Belyaeva, E. O., Savchenko, R. R., Nazarenko, L. P., Lebedev, I. N.

“…Detection of translocations in subtelomeric regions of chromosomes is a serious diagnostic problem, because they are difficult to determine by conventional…”
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Preimplantation Genetic Diagnosis by Blastocentesis: Problems and Perspectives by Zhigalina, D I, Skryabin, N A, Artyukhova, V G, Svetlakov, A V, Lebedev, I N

“…The discovery of cell-free DNA in blastocoele fluid opens new perspectives for the development of preimplantation genetic diagnosis of human chromosomal and…”
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss by Essers, Rick, Lebedev, Igor N., Kurg, Ants, Fonova, Elizaveta A., Stevens, Servi J. C., Koeck, Rebekka M., von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V., Sazhenova, Elena A., Tolmacheva, Ekaterina N., Kashevarova, Anna A., Fedotov, Dmitry A., Demeneva, Viktoria V., Zhigalina, Daria I., Drozdov, Gleb V., Al-Nasiry, Salwan, Macville, Merryn V. E., van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G., Salumets, Andres, Zamani Esteki, Masoud

“…Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in…”
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Skewed X-chromosome inactivation in human miscarriages by Tolmacheva, E. N., Vasil’ev, S. A., Sazhenova, E. A., Zhigalina, D. I., Grigorovich, E. I., Nikitina, T. V., Mel’nikov, A. A., Zhabina, E. S., Ivanova, T. V., Evtushenko, I. D., Lebedev, I. N.

“…The sex ratio in the first trimester of pregnancy shifts toward males due to increased elimination of female embryos. One reason for this phenomenon may be…”
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SKEWED X-CHROMOSOME INACTIVATION IN HUMAN MISCARRIAGES by Tolmacheva, E N, Vasilyev, S A, Sazhenova, E A, Zhigalina, D I, Grigorovich, E I, Nikitina, T V, Melnikov, A A, Zhabina, E S, Ivanova, T V, Evtushenko, I D, Lebedev, I N

“…Sex ratio in first trimester of pregnancy is skewed due to preferential elimination of female embryos. It could be resulted from aberrant X-chromosome…”
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