Scientific publications

Date 2025 Oct 22

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p. Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients

Authors Nuzhnaya E, Sharova M, Chubykina U, Orlova A, Vorontsova E, Vasiliev P.

Journal Genes 16(11):1250

PDF · 697.0 kB
Date 2025 Sep 2

Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16

Authors Panchenko E, Semenova N, Sereda O, Guseva D, Markova Z, Shilova N, Simonova O, Smirnov A, Pustoshilov D, Khalilova A, Udalova V.

Journal International Journal of Molecular Sciences 26(17):8521

PDF · 1.2 MB
Date 2025 Sep 25

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases

Authors Vorontsova EO, Murtazina A, Zinina E, Polyakov AV, Sumina M, Rybakova OA, Vlodavets D, Kazakov D, Suvorova Y, Sharkova IV, Demina NA.

Journal International Journal of Molecular Sciences 26(19):9389

PDF · 2.4 MB
Date 2025 Aug 7

CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures

Authors Demchenko AG, Kyian TA, Kondratyeva EI, Bragina EE, Ryzhkova OP, Veiko RV, Nazarova AG, Chernykh VB, Smirnikhina SA, Kutsev SI.

Journal International Journal of Molecular Sciences 26(15):7655

PDF · 3.2 MB
Date 2025 Oct 24

Genomics of pregnancy loss

Authors Nikitina TV, Fonova EA, Lebedev IN.

Journal Journal of Assisted Reproduction and Genetics 1-6

PDF · 1.1 MB

Date 2024 May 21

Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

Authors Bostanova F, Levchenko O, Sharova M, Semenova N.

Journal Clinics and Practice 14(3):928-33

PDF · 824.1 kB
Date 2024 Jan 5

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24. 32: a case report

Authors Akimova D, Markova T, Ampleeva M, Skoblov M.

Journal Frontiers in Genetics 14:1303807

PDF · 1.3 MB
Date 2024 Oct 9

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

Authors Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O.

Journal International Journal of Molecular Sciences 25(19):10844

PDF · 1.5 MB
Date 2024 Oct 1

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Authors Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, Kutsev S.

Journal Biomedicines 12(10):2234

PDF · 886.0 kB
Date 2024 Feb

Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene

Authors Kondrateva EV, Grigorieva OV, Kurshakova EV, Panchuk IO, Pozhitnova VO, Voronina ES, Tabakov VY, Nikishina IP, Arsenyeva SV, Matkava VG, Lavrov AV.

Journal Russian Journal of Developmental Biology 55(1):34-8

PDF · 552.3 kB
Date 2024 Dec 6

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype

Authors Sparber P, Ulas E, Filatova A, Tatarskiy E, Perelman G, Makretskaya N, Nagaeva E, Kareva M, Frolova E, Kalinchenko N, Tvorogova AV.

Journal The Journal of Clinical Endocrinology & Metabolism dgae839

PDF · 1.0 MB
Date 2024 Dec 20

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases

Authors Kyian T, Borovikov A, Anisimova I, Ryzhkova O, Bulakh M, Bragina E, Avakyan M, Demchenko A, Zabnenkova V, Kovalev V, Bukhonin A.

Journal Genes 15(12):1633

PDF · 2.4 MB
Date 2024 Dec 18

Molecular Subgroups of HRD Positive Ovarian Cancer and Their Prognostic Significance

Authors Kekeeva T, Dudina I, Andreeva Y, Tanas A, Kalinkin A, Musatova V, Chernorubashkina N, Khokhlova S, Tikhomirova T, Volkonsky M, Kutsev S.

Journal International Journal of Molecular Sciences 25(24):13549

PDF · 2.2 MB
Date 2024 Oct 30

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)

Authors Tsygankova P, Chistol D, Krylova T, Bychkov I, Tabakov V, Markova T, Dadali E, Zakharova E.

Journal Genes 15(11):1406

PDF · 1.8 MB
Date 2024 May 8

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants

Authors Kistol D, Tsygankova P, Bostanova F, Orlova M, Zakharova E.

Journal International Journal of Molecular Sciences 25(10):5127

PDF · 3.0 MB
Date 2024

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings

Authors Sharkova I, Borovikov A, Konovalov F, Nefedova M, Shchagina O, Kutsev S, Murtazina A.

Journal Clinical Genetics

PDF · 654.4 kB
Date 2024 Dec 11

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Authors Subbotin D, Ionova S, Marakhonov A, Saifullina E, Borovikov A, Akhmadeeva L, Chausova P, Ryzhkova O, Zinchenko R, Kutsev S, Murtazina A.

Journal Frontiers in Genetics 15:1511304

PDF · 1.5 MB
Date 2024 Oct 9

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

Authors Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S.

Journal International Journal of Molecular Sciences 25(19):10841

PDF · 618.0 kB
Date 2024 Oct 28

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

Authors Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, Amelina E, Kashirskaya N, Shadrina V, Polyakov A, Adyan T.

Journal Frontiers in Genetics 15:1383033

PDF · 1.6 MB
Date 2024 Jul 29

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

Authors Y.Y. Kotalevskaya, V.A. Stepanov.

Journal Frontiers in Medicine 11:1418239

DOI 10.3389/fmed.2024.1418239

PDF · 925.2 kB
Date 2023

Generation of an Induced Pluripotent StemCell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient

Authors D.I. Zhigalina, T.N. Kireeva, T.V. Nikitina, O.N. Odinokova, N.A. Kolesnikov, A.A. Malakhova, R.R. Savchenko, I.Zh. Zhalsanova, N.R. Valiahmetov, A.E. Postrigan, S.L. Vovk, N.B. Torkhova, A.A. Frolova, V.A. Stepanov, and N A. Skryabin.

Journal Russian Journal of Developmental Biology Vol. 54, Suppl. 1, S68–S74

DOI: 10.1134/S106236042307007X

PDF · 866.0 kB
Date 2024

PGT M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Authors E.V. Soloveva, M.M. Skleimova, L.I. Minaycheva, A.F. Garaeva, D.I. Zhigalina, E.O. Churkin, Y.V. Okkel, O.S. Timofeeva, I.A. Petrov, G.N. Seitova, I.N. Lebedev, V.A. Stepanov.

Journal Journal of Assisted Reproduction and Genetics 41:1273–1283

doi.org/10.1007/s10815-024-03105-w

PDF · 1.1 MB
Date 2024 Dec 4

Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis

Authors Zhalsanova IZ, Fonova EA, Valiakhmetov NR, Kolesnikov NA, Gosudarkina SN, Agafonova AA, Ravzhaeva EG, Seitova GN, Stepanov VA, Skryabin NA.

Journal International Journal of Molecular Sciences 25(23):13025

PDF · 1.5 MB

Date 2023 Jun 22

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Authors Kekeeva T, Andreeva Y, Tanas A, Kalinkin A, Khokhlova S, Tikhomirova T, Tyulyandina A, Popov A, Kuzmenko M, Volkonsky M, Chernorubashkina N.

Journal International Journal of Molecular Sciences 24(13):10497

PDF · 915.2 kB
Date 2023 Jun 6

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Authors Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M, Dadali E.

Journal International Journal of Molecular Sciences 24(12):9786

PDF · 966.9 kB
Date 2024

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

Authors Shchagina, Olga, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, and Aleksander Polyakov.

Journal Biomedicines 12, no. 1: 72

PDF · 1.6 MB
Date 2023

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Authors Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M.

Journal Frontiers in Genetics 14

PDF · 1.5 MB
Date 2023 Dec 21

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3

Authors Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E.

Journal International Journal of Molecular Sciences 25(1):129

PDF · 2.5 MB
Date 2023 Dec 22

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280. 4: c. 341A> G, p.(Asn114Ser)

Authors Vasilyeva TA, Sukhanova NV, Khalanskaya OV, Marakhonov AV, Prokhorov NS, Kadyshev VV, Skryabin NA, Kutsev SI, Zinchenko RA.

Journal Current Issues in Molecular Biology 46(1):96-105

PDF · 583.5 kB
Date 2023 Jan 30

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Authors Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, Vasilyeva T, Ginter E, Kutsev S, Zinchenko R.

Journal PeerJ 11:e14514

PDF · 1.0 MB
Date 2023 Aug 25

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Authors Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY.

Journal International Journal of Neonatal Screening 9(3):48

PDF · 495.9 kB
Date 2023 Dec 21

The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy

Authors Krasnova M, Efremova A, Bukhonin A, Zhekaite E, Bukharova T, Melyanovskaya Y, Goldshtein D, Kondratyeva E.

Journal International Journal of Molecular Sciences 25(1):114

PDF · 528.0 kB
Date 2023 Jun 7

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva

Authors Kondrateva E, Grigorieva O, Kurshakova E, Panchuk I, Pozhitnova V, Voronina E, Tabakov V, Orlova M, Lavrov A, Smirnikhina S, Kutsev S.

Journal Stem Cell Research 103133

PDF · 2.3 MB
Date 2023 Sep 1

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

Authors Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV.

Journal Stem Cell Research 71:103183

PDF · 4.2 MB
Date 2023 Dec 1

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

Authors Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S.

Journal Stem Cell Research 73:103259

PDF · 3.7 MB
Date 2023 Apr 3

Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI

Authors Zhalsanova IZ, Postrigan AE, Valiakhmetov NR, Kolesnikov NA, Zhigalina DI, Zarubin AA, Petrova VV, Minaycheva LI, Seitova GN, Skryabin NA, Stepanov VA.

Journal International Journal of Molecular Sciences 24(7):6672

PDF · 3.1 MB
Date 2023 Mar 6

Молекулярно-генетические основы буллезного эпидермолиза

Authors Коталевская ЮЮ, Степанов ВА.

Journal Вавиловский журнал генетики и селекции 27(1):18-27

PDF · 780.1 kB

Date 2021

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology

Authors Voskoboeva EY, Bookina TM, Semyachkina AN, Mikhaylova SV, Vashakmadze ND, Baydakova GV, Zakharova EY, Kutsev SI.

Journal Frontiers in Molecular Biosciences 8

(Квартиль издания - Q1)

PDF · 1.3 MB
Date 2022 Jan 18

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

Authors Voskoboeva E, Semyachkina A, Miklyaev O, Gamzatova A, Mikhaylova S, Vashakmadze N, Baydakova G, Omzar O, Pichkur N, Zakharova E, Kutsev S.

Journal Frontiers in Molecular Biosciences 8:780184

(Квартиль издания - Q1)

PDF · 1.5 MB
Date 2022 Dec

High frequency of complex CFTR alleles associated with c. 1521_1523delCTT (F508del) in Russian cystic fibrosis patients

Authors Petrova NV, Kashirskaya NY, Vasilyeva TA, Balinova NV, Marakhonov AV, Kondratyeva EI, Zhekaite EK, Voronkova AY, Kutsev SI, Zinchenko RA.

Journal BMC genomics 23(1):1-6

(Квартиль издания - Q2)

PDF · 895.7 kB
Date 2022

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Authors Sharkov A, Sparber P, Stepanova A, Pyankov D, Korostelev S, Skoblov M.

Journal Frontiers in genetics 13

(Квартиль издания - Q2)

PDF · 1.4 MB
Date 2022 Oct 1

Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene

Authors Panchuk I, Kondrateva E, Demchenko A, Grigorieva O, Erofeeva A, Amelina E, Tabakov V, Orlova M, Voronina E, Pozhitnova V, Lavrov A.

Journal Stem Cell Research 64:102896

(Квартиль издания - Q4)

PDF · 4.1 MB
Date 2022 Aug 1

Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2. 3 mutations in CFTR gene

Authors Kondrateva E, Panchuk I, Demchenko A, Grigorieva O, Zheglo D, Voronina E, Erofeeva A, Tabakov V, Orlova M, Lavrov A, Smirnikhina S.

Journal Stem Cell Research 63:102854

(Квартиль издания - Q4)

PDF · 3.5 MB
Date 2022 Aug 1

Pediatric chordoma associated with tuberous sclerosis complex: A rare case report with a thorough analysis of potential therapeutic molecular targets

Authors Anoshkin K, Zosen D, Karandasheva K, Untesco M, Volodin I, Alekseeva E, Parfenenkova A, Snegova E, Kim A, Dorofeeva M, Kutsev S.

Journal Heliyon 8(8):e10291

(Квартиль издания - Q2)

PDF · 1.3 MB
Date 2022

РОЛЬ СПЛАЙСИНГА В ПАТОГЕНЕЗЕ МОНОГЕННЫХ БОЛЕЗНЕЙ

Authors Н. А. Скрябин, Д. И. Жигалина, В. А. Степанов.

Journal ГЕНЕТИКА том 58, No 10, с. 1155–1163

(Квартиль издания - Q4)

PDF · 99.6 kB
Date 2022

ГЕНЕТИЧЕСКАЯ ВЗАИМОСВЯЗЬ ЧУЛЫМСКИХ ТЮРКОВ С ХАКАСАМИ И КЕТАМИ ПО ДАННЫМ АУТОСОМНЫХ SNP И ГАПЛОГРУППАМ Y-ХРОМОСОМЫ

Authors Л. В. Валихова, В. Н. Харьков, А. А. Зарубин, Н. А. Колесников, М. Г. Сваровская, И. Ю. Хитринская, О. В. Штыгашева, В. Г. Волков, В. А. Степанов.

Journal ГЕНЕТИКА том 58, No 10, с. 1177–1184

PDF · 596.2 kB
Date 2022 Sep 13

Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome

Authors Zhalsanova IZ, Ravzhaeva EG, Postrigan AE, Seitova GN, Zhigalina DI, Udalova VY, Danina MM, Kanivets IV, Skryabin NA.

Journal International Journal of Molecular Sciences 23(18):10606

(Квартиль издания - Q1)

PDF · 2.0 MB
Date 2022

КЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ ВРОЖДЕННОГО СИНДРОМА УДЛИНЕННОГО ИНТЕРВАЛА QT

Authors А. Е. Постригань, Н. П. Бабушкина, Л. И. Свинцова, И. В. Плотникова, Н. А. Скрябин.

Journal ГЕНЕТИКА том 58, No 10, с. 1164–1176

(Квартиль издания - Q4)

PDF · 387.4 kB