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Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.

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Title: Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
Authors: Zaklyazminskaya EV; Petrovsky National Research Centre of Surgery, Moscow 119991, Russia., Nefedova VV; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia., Koubassova NA; Institute of Mechanics, Lomonosov Moscow State University, Moscow 119192, Russia., Kotlukova NP; Pediatrics Faculty of Medicine, Pirogov Russian National Research Medical University, Moscow 117997, Russia., Kopylova GV; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Kochurova AM; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Shchepkin DV; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Ryabkova NS; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland., Katrukha IA; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland., Kleymenov SY; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.; Koltzov Institute of Developmental Biology, Russian Academy of Sciences, Moscow 119334, Russia., Bershitsky SY; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Matyushenko AM; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia., Tsaturyan AK; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Levitsky DI; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.
Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 05; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 05.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
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  Data: <searchLink fieldCode="AU" term="%22Zaklyazminskaya+EV%22">Zaklyazminskaya EV</searchLink>; Petrovsky National Research Centre of Surgery, Moscow 119991, Russia.<br /><searchLink fieldCode="AU" term="%22Nefedova+VV%22">Nefedova VV</searchLink>; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.<br /><searchLink fieldCode="AU" term="%22Koubassova+NA%22">Koubassova NA</searchLink>; Institute of Mechanics, Lomonosov Moscow State University, Moscow 119192, Russia.<br /><searchLink fieldCode="AU" term="%22Kotlukova+NP%22">Kotlukova NP</searchLink>; Pediatrics Faculty of Medicine, Pirogov Russian National Research Medical University, Moscow 117997, Russia.<br /><searchLink fieldCode="AU" term="%22Kopylova+GV%22">Kopylova GV</searchLink>; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.<br /><searchLink fieldCode="AU" term="%22Kochurova+AM%22">Kochurova AM</searchLink>; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.<br /><searchLink fieldCode="AU" term="%22Shchepkin+DV%22">Shchepkin DV</searchLink>; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.<br /><searchLink fieldCode="AU" term="%22Ryabkova+NS%22">Ryabkova NS</searchLink>; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland.<br /><searchLink fieldCode="AU" term="%22Katrukha+IA%22">Katrukha IA</searchLink>; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland.<br /><searchLink fieldCode="AU" term="%22Kleymenov+SY%22">Kleymenov SY</searchLink>; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.; Koltzov Institute of Developmental Biology, Russian Academy of Sciences, Moscow 119334, Russia.<br /><searchLink fieldCode="AU" term="%22Bershitsky+SY%22">Bershitsky SY</searchLink>; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.<br /><searchLink fieldCode="AU" term="%22Matyushenko+AM%22">Matyushenko AM</searchLink>; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.<br /><searchLink fieldCode="AU" term="%22Tsaturyan+AK%22">Tsaturyan AK</searchLink>; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Levitsky+DI%22">Levitsky DI</searchLink>; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2024 Dec 05; Vol. 25 (23). <i>Date of Electronic Publication: </i>2024 Dec 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE
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              Text: 2024 Dec 05
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