Bychkov I - Search Results

1

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Among authors: bychkov i. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.

2

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.

Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S, Kutsev S. Kondrateva E, et al. Among authors: bychkov i. Stem Cell Res. 2023 Dec;73:103259. doi: 10.1016/j.scr.2023.103259. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38006675 Free article.

3

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Shchagina O, et al. Among authors: bychkov i. Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072. Biomedicines. 2023. PMID: 38255179 Free PMC article.

4

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Apr 16;22(8):4154. doi: 10.3390/ijms22084154. Int J Mol Sci. 2021. PMID: 33923806 Free PMC article.

5

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY. Bychkov IO, et al. Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31230978

6

Alkaptonuria in Russia: mutational spectrum and novel variants.

Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20. Eur J Med Genet. 2021. PMID: 33621656

7

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.

Bychkov I, Filatova A, Perelman G, Proshlyakova T, Korotkova D, Klyushnikov S, Karpova M, Tabakov V, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Hum Genet. 2022 Jan;30(1):133-136. doi: 10.1038/s41431-021-00898-7. Epub 2021 May 6. Eur J Hum Genet. 2022. PMID: 33958742 Free PMC article.

8

Complex Transposon Insertion as a Novel Cause of Pompe Disease.

Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.

9

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Among authors: bychkov i. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.

10

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. NPJ Genom Med. 2022 Jul 26;7(1):44. doi: 10.1038/s41525-022-00315-y. NPJ Genom Med. 2022. PMID: 35882863 Free PMC article.

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