A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.
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| Title: | A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review. |
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| Authors: | He D; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. hehe0917@mail.jnmc.edu.cn.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn., Luo Y; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China., Wei S; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Wang Y; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Zhang C; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China., Chen S; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Ban B; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China., Zhang M; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China., Li Y; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. liyanying510@126.com.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. liyanying510@126.com.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China. liyanying510@126.com. |
| Source: | Human genomics [Hum Genomics] 2025 Aug 31; Vol. 19 (1), pp. 103. Date of Electronic Publication: 2025 Aug 31. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40887625 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22He+D%22">He D</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. hehe0917@mail.jnmc.edu.cn.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn.<br /><searchLink fieldCode="AU" term="%22Luo+Y%22">Luo Y</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.<br /><searchLink fieldCode="AU" term="%22Wei+S%22">Wei S</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Zhang+C%22">Zhang C</searchLink>; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Ban+B%22">Ban B</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Zhang+M%22">Zhang M</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. liyanying510@126.com.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. liyanying510@126.com.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China. liyanying510@126.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2025 Aug 31; Vol. 19 (1), pp. 103. <i>Date of Electronic Publication: </i>2025 Aug 31. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40887625 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40246-025-00816-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 103 Titles: – TitleFull: A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: He D – PersonEntity: Name: NameFull: Luo Y – PersonEntity: Name: NameFull: Wei S – PersonEntity: Name: NameFull: Wang Y – PersonEntity: Name: NameFull: Zhang C – PersonEntity: Name: NameFull: Chen S – PersonEntity: Name: NameFull: Ban B – PersonEntity: Name: NameFull: Zhang M – PersonEntity: Name: NameFull: Li Y IsPartOfRelationships: – BibEntity: Dates: – D: 31 M: 08 Text: 2025 Aug 31 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1479-7364 Numbering: – Type: volume Value: 19 – Type: issue Value: 1 Titles: – TitleFull: Human genomics Type: main |
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