Skoblov M - Search Results

1

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. Among authors: skoblov m. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.

2

Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.

Skoblov M, Marakhonov A, Marakasova E, Guskova A, Chandhoke V, Birerdinc A, Baranova A. Skoblov M, et al. Bioessays. 2013 Jul;35(7):586-96. doi: 10.1002/bies.201300002. Epub 2013 Apr 17. Bioessays. 2013. PMID: 23592240

3

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA. Zernov NV, et al. J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20. J Invest Dermatol. 2016. PMID: 26902920 Free article.

4

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY. Marakhonov AV, et al. Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9. Gene. 2018. PMID: 29894794

5

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.

Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY. Filatova AY, et al. Eur J Hum Genet. 2019 Mar;27(3):488-493. doi: 10.1038/s41431-018-0288-y. Epub 2018 Oct 12. Eur J Hum Genet. 2019. PMID: 30315214 Free PMC article.

6

Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.

Sparber P, Marakhonov A, Filatova A, Sharkova I, Skoblov M. Sparber P, et al. Among authors: skoblov m. Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4. Epub 2018 Nov 3. Neurogenetics. 2018. PMID: 30392167

7

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Filatova A, Freire V, Lozier E, Konovalov F, Bessonova L, Iudina E, Gnetetskaya V, Kanivets I, Korostelev S, Skoblov M. Filatova A, et al. Among authors: skoblov m. Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28. Clin Genet. 2019. PMID: 30485398 Free article. No abstract available.

8

Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.

Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Surikova Y, et al. Among authors: skoblov m. Gene. 2019 May 20;697:159-164. doi: 10.1016/j.gene.2019.02.011. Epub 2019 Feb 19. Gene. 2019. PMID: 30794915

9

The role of long non-coding RNAs in the pathogenesis of hereditary diseases.

Sparber P, Filatova A, Khantemirova M, Skoblov M. Sparber P, et al. Among authors: skoblov m. BMC Med Genomics. 2019 Mar 13;12(Suppl 2):42. doi: 10.1186/s12920-019-0487-6. BMC Med Genomics. 2019. PMID: 30871545 Free PMC article. Review.

10

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.

Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Marakhonov AV, et al. Among authors: skoblov my. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796

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