Identification of clinically significant variants in genes of cardiovascular embryonic development in sporadic ascending aortic aneurysm and “bovine aortic arch”

I. A. Goncharova; D. S. Panfilov; A. A. Sleptcov; S. A. Shipulina; A. A. Zarubin; N. P. Babushkina; N. R. Valiakhmetov; V. V. Saushkin; E. V. Lelik; E. A. Petrakova; B. N. Kozlov; M. S. Nazarenko

Siberian Journal of Clinical and Experimental Medicine

ISSN 2713-2927 (Print)
ISSN 2713-265X (Online)

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Goncharova I.A., Panfilov D.S., Sleptcov A.A., Shipulina S.A., Zarubin A.A., Babushkina N.P., Valiakhmetov N.R., Saushkin V.V., Lelik E.V., Petrakova E.A., Kozlov B.N., Nazarenko M.S. Identification of clinically significant variants in genes of cardiovascular embryonic development in sporadic ascending aortic aneurysm and “bovine aortic arch”. Siberian Journal of Clinical and Experimental Medicine. 2025;40(4):81-89. (In Russ.) https://doi.org/10.29001/2073-8552-2025-40-4-81-89

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ISSN 2713-2927 (Print)
ISSN 2713-265X (Online)

Internal Medicine

Radiology, Nuclear Medicine and Imaging

Medicine (miscellaneous)

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About the Authors

I. A. Goncharova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Irina A. Goncharova - Cand. Sci. (Biol.), Research Scientist, Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

D. S. Panfilov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Cardiology Research Institute, Tomsk NRMC)
Russian Federation

Dmitri S. Panfilov - Dr. Sci. (Med.), Senior Research Scientist, Department of Cardiovascular Surgery, Cardiology Research Institute, Tomsk NRMC.

111a, Kievskaya str., Tomsk, 634012

A. A. Sleptcov
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Sleptsov A. Aleksei - Cand. Sci. (Med.), Research Scientist, Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

S. A. Shipulina
Siberian State Medical University of the Ministry of Health of the Russian Federation (SSMU)
Russian Federation

Sofia A. Shipulina - Assistant Professor, Department of Morphology and General Pathology, SSMU.

2, Moskovskiy trakt, Tomsk, 634050

A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Alexey A. Zarubin - Cand. Sci. (Med.), Junior Research Scientist, Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

N. P. Babushkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Nadezhda P. Babushkina - Cand. Sci. (Biol.), Research Scientist, Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

N. R. Valiakhmetov
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Nail R. Valiakhmetov - Cand. Sci. (Med.), Junior Research Scientist, Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

V. V. Saushkin
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Cardiology Research Institute, Tomsk NRMC)
Russian Federation

111a, Kievskaya str., Tomsk, 634012

E. V. Lelik
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Cardiology Research Institute, Tomsk NRMC)
Russian Federation

Eugenia V. Lelik - Cand. Sci. (Med.), Junior Research Scientist, Cardiologist, Department of Cardiovascular Surgery, Cardiology Research Institute.

111a, Kievskaya str., Tomsk, 634012

E. A. Petrakova
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Cardiology Research Institute, Tomsk NRMC)
Russian Federation

Elizaveta A. Petrakova - Graduate Student, Senior Research Scientist, Cardiovascular Surgeon, Department of Cardiovascular Surgery, Cardiology Research Institute.

111a, Kievskaya str., Tomsk, 634012

B. N. Kozlov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Cardiology Research Institute, Tomsk NRMC)
Russian Federation

Boris N. Kozlov - Dr. Sci. (Med.), Professor, Head of the Department of Cardiovascular Surgery, Cardiology Research Institute, Tomsk NRMC.

111a, Kievskaya str., Tomsk, 634012

M. S. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences (Research Institute of Medical Genetics, Tomsk NRMC)
Russian Federation

Maria A. Nazarenko - Dr. Sci. (Med.), Senior Research Scientist, Head of Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk NRMC.

10, Naberezhnaya Ushaiki str., Tomsk, 634050

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