Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.
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| Title: | Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction. |
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| Authors: | Jorge SD; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States., Chi YI; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Mazaba JL; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States., Haque N; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States., Wagenknecht J; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States., Smith BC; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States., Volkman BF; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States., Mathison AJ; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Lomberk G; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, United States., Zimmermann MT; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, United States., Urrutia R; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States. |
| Source: | Frontiers in genetics [Front Genet] 2023 Nov 28; Vol. 14, pp. 1291307. Date of Electronic Publication: 2023 Nov 28 (Print Publication: 2023). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38090150 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jorge+SD%22">Jorge SD</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Chi+YI%22">Chi YI</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Mazaba+JL%22">Mazaba JL</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Haque+N%22">Haque N</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Wagenknecht+J%22">Wagenknecht J</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Smith+BC%22">Smith BC</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Volkman+BF%22">Volkman BF</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Mathison+AJ%22">Mathison AJ</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Lomberk+G%22">Lomberk G</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Zimmermann+MT%22">Zimmermann MT</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, United States.<br /><searchLink fieldCode="AU" term="%22Urrutia+R%22">Urrutia R</searchLink>; Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Nov 28; Vol. 14, pp. 1291307. <i>Date of Electronic Publication: </i>2023 Nov 28 (<i>Print Publication: </i>2023). – 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="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38090150 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2023.1291307 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1291307 Titles: – TitleFull: Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jorge SD – PersonEntity: Name: NameFull: Chi YI – PersonEntity: Name: NameFull: Mazaba JL – PersonEntity: Name: NameFull: Haque N – PersonEntity: Name: NameFull: Wagenknecht J – PersonEntity: Name: NameFull: Smith BC – PersonEntity: Name: NameFull: Volkman BF – PersonEntity: Name: NameFull: Mathison AJ – PersonEntity: Name: NameFull: Lomberk G – PersonEntity: Name: NameFull: Zimmermann MT – PersonEntity: Name: NameFull: Urrutia R IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 11 Text: 2023 Nov 28 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 14 Titles: – TitleFull: Frontiers in genetics Type: main |
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