Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon.
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| Title: | Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. |
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| Authors: | Rozhkova AV; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Esibov AA; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Borkovskaia AN; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Rutkovskaya EA; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Groznova OS; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 125412 Moscow, Russia.; Charity Fund for Medical and Social Genetic Aid Projects «Life Genome», 119334 Moscow, Russia.; Department of Innovative Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 117997 Moscow, Russia., Sagaydak OV; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia.; Evogen LLC, 115191 Moscow, Russia., Doroshchuk NA; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia.; Evogen LLC, 115191 Moscow, Russia., Krupinova JA; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.; Moscow Clinical Scientific and Practical Center Named After A.S. Loginov, Moscow City Health Department, Novogireevskaya st., bldg. 1, 111123 Moscow, Russia., Mityaeva ON; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Woroncow M; Faculty of Medicine, Lomonosov Moscow State University, Leninskie Gory 1, 119991 Moscow, Russia., Bogdanov VP; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia., Volchkov PY; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2026 Aug 24; Vol. 27 (17). Date of Electronic Publication: 2026 Aug 24. |
| Publication Type: | Journal Article |
| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42737459 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rozhkova+AV%22">Rozhkova AV</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Esibov+AA%22">Esibov AA</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Borkovskaia+AN%22">Borkovskaia AN</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Rutkovskaya+EA%22">Rutkovskaya EA</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Groznova+OS%22">Groznova OS</searchLink>; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 125412 Moscow, Russia.; Charity Fund for Medical and Social Genetic Aid Projects «Life Genome», 119334 Moscow, Russia.; Department of Innovative Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 117997 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sagaydak+OV%22">Sagaydak OV</searchLink>; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia.; Evogen LLC, 115191 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Doroshchuk+NA%22">Doroshchuk NA</searchLink>; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia.; Evogen LLC, 115191 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Krupinova+JA%22">Krupinova JA</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.; Moscow Clinical Scientific and Practical Center Named After A.S. Loginov, Moscow City Health Department, Novogireevskaya st., bldg. 1, 111123 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Mityaeva+ON%22">Mityaeva ON</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Woroncow+M%22">Woroncow M</searchLink>; Faculty of Medicine, Lomonosov Moscow State University, Leninskie Gory 1, 119991 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bogdanov+VP%22">Bogdanov VP</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Volchkov+PY%22">Volchkov PY</searchLink>; Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Ministry of Science and Higher Education of the Russian Federation, 125315 Moscow, Russia.; Moscow Center for Advanced Studies, Ministry of Science and Higher Education of the Russian Federation, 123592 Moscow, Russia.; National Medical Research Center of Cardiology Named After Academician E.I. Chazov, 121552 Moscow, Russia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2026 Aug 24; Vol. 27 (17). <i>Date of Electronic Publication: </i>2026 Aug 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42737459 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms27177555 Languages: – Code: eng Text: English Titles: – TitleFull: Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rozhkova AV – PersonEntity: Name: NameFull: Esibov AA – PersonEntity: Name: NameFull: Borkovskaia AN – PersonEntity: Name: NameFull: Rutkovskaya EA – PersonEntity: Name: NameFull: Groznova OS – PersonEntity: Name: NameFull: Sagaydak OV – PersonEntity: Name: NameFull: Doroshchuk NA – PersonEntity: Name: NameFull: Krupinova JA – PersonEntity: Name: NameFull: Mityaeva ON – PersonEntity: Name: NameFull: Woroncow M – PersonEntity: Name: NameFull: Bogdanov VP – PersonEntity: Name: NameFull: Volchkov PY IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 08 Text: 2026 Aug 24 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1422-0067 Numbering: – Type: volume Value: 27 – Type: issue Value: 17 Titles: – TitleFull: International journal of molecular sciences Type: main |
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