Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective.
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| Title: | Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective. |
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| Authors: | Ogmen K; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Dobbins SE; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Behncke RY; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany., Martinez-Corral I; Department of Immunology, Genetics and Pathology, Uppsala University, Sweden., Brown RC; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Meier M; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia.; Bioinformatics Core Facility, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Ulferts S; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany., Hansmeier NR; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Sackey E; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Alqahtani A; Bioscience Institute, Wolfson Childhood Cancer Research Centre, Brewery Lane, Newcastle University, Newcastle upon Tyne, United Kingdom., Karapouliou C; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Grigoriadis D; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Del Rey Jimenez JC; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Oberlin M; Földiklinik GmbH & Co. KG, European Center for Lymphology Black Forest, Hinterzarten, Germany., Williams D; The National Congenital Anomaly and Rare Diseases Registration Services (NCARDRS) NHS England, Birmingham Government Hub, Birmingham, United Kingdom., Ekici A; University of Health Sciences, Bursa Yüksek Īhtisas Training and Research Hospital, Department of Pediatric Neurology, Bursa, Turkey., Karaer K; Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey., Jeffery S; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Mortimer P; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; Dermatology & Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Gordon K; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; Dermatology & Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Okuda KS; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia., Hogan BM; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia., Mäkinen T; Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.; Translational Cancer Medicine Program and Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.; Wihuri Research Institute, Helsinki, Finland., Hägerling R; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Mansour S; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Martin-Almedina S; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom., Ostergaard P; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom. |
| Source: | JCI insight [JCI Insight] 2025 Dec 18; Vol. 11 (3). Date of Electronic Publication: 2025 Dec 18 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41427784 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ogmen+K%22">Ogmen K</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dobbins+SE%22">Dobbins SE</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Behncke+RY%22">Behncke RY</searchLink>; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Martinez-Corral+I%22">Martinez-Corral I</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.<br /><searchLink fieldCode="AU" term="%22Brown+RC%22">Brown RC</searchLink>; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Meier+M%22">Meier M</searchLink>; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia.; Bioinformatics Core Facility, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ulferts+S%22">Ulferts S</searchLink>; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Hansmeier+NR%22">Hansmeier NR</searchLink>; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Sackey+E%22">Sackey E</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alqahtani+A%22">Alqahtani A</searchLink>; Bioscience Institute, Wolfson Childhood Cancer Research Centre, Brewery Lane, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Karapouliou+C%22">Karapouliou C</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Grigoriadis+D%22">Grigoriadis D</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Del+Rey+Jimenez+JC%22">Del Rey Jimenez JC</searchLink>; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Oberlin+M%22">Oberlin M</searchLink>; Földiklinik GmbH & Co. KG, European Center for Lymphology Black Forest, Hinterzarten, Germany.<br /><searchLink fieldCode="AU" term="%22Williams+D%22">Williams D</searchLink>; The National Congenital Anomaly and Rare Diseases Registration Services (NCARDRS) NHS England, Birmingham Government Hub, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ekici+A%22">Ekici A</searchLink>; University of Health Sciences, Bursa Yüksek Īhtisas Training and Research Hospital, Department of Pediatric Neurology, Bursa, Turkey.<br /><searchLink fieldCode="AU" term="%22Karaer+K%22">Karaer K</searchLink>; Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey.<br /><searchLink fieldCode="AU" term="%22Jeffery+S%22">Jeffery S</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mortimer+P%22">Mortimer P</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; Dermatology & Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gordon+K%22">Gordon K</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; Dermatology & Lymphovascular Medicine, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Okuda+KS%22">Okuda KS</searchLink>; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Hogan+BM%22">Hogan BM</searchLink>; Organogenesis and Cancer Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology and Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mäkinen+T%22">Mäkinen T</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.; Translational Cancer Medicine Program and Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.; Wihuri Research Institute, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Hägerling+R%22">Hägerling R</searchLink>; Research Group Lymphovascular Medicine and Translational 3D-Histopathology, Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mansour+S%22">Mansour S</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Martin-Almedina+S%22">Martin-Almedina S</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ostergaard+P%22">Ostergaard P</searchLink>; School of Health & Medical Sciences, City St George's, University of London, London, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2025 Dec 18; Vol. 11 (3). <i>Date of Electronic Publication: </i>2025 Dec 18 (<i>Print Publication: </i>2026). – 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="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101676073 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2379-3708 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223793708%22">23793708 </searchLink><i>NLM ISO Abbreviation: </i>JCI Insight <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1172/jci.insight.177656 Languages: – Code: eng Text: English Titles: – TitleFull: Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ogmen K – PersonEntity: Name: NameFull: Dobbins SE – PersonEntity: Name: NameFull: Behncke RY – PersonEntity: Name: NameFull: Martinez-Corral I – PersonEntity: Name: NameFull: Brown RC – PersonEntity: Name: NameFull: Meier M – PersonEntity: Name: NameFull: Ulferts S – PersonEntity: Name: NameFull: Hansmeier NR – PersonEntity: Name: NameFull: Sackey E – PersonEntity: Name: NameFull: Alqahtani A – PersonEntity: Name: NameFull: Karapouliou C – PersonEntity: Name: NameFull: Grigoriadis D – PersonEntity: Name: NameFull: Del Rey Jimenez JC – PersonEntity: Name: NameFull: Oberlin M – PersonEntity: Name: NameFull: Williams D – PersonEntity: Name: NameFull: Ekici A – PersonEntity: Name: NameFull: Karaer K – PersonEntity: Name: NameFull: Jeffery S – PersonEntity: Name: NameFull: Mortimer P – PersonEntity: Name: NameFull: Gordon K – PersonEntity: Name: NameFull: Okuda KS – PersonEntity: Name: NameFull: Hogan BM – PersonEntity: Name: NameFull: Mäkinen T – PersonEntity: Name: NameFull: Hägerling R – PersonEntity: Name: NameFull: Mansour S – PersonEntity: Name: NameFull: Martin-Almedina S – PersonEntity: Name: NameFull: Ostergaard P IsPartOfRelationships: – BibEntity: Dates: – D: 18 M: 12 Text: 2025 Dec 18 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 2379-3708 Numbering: – Type: volume Value: 11 – Type: issue Value: 3 Titles: – TitleFull: JCI insight Type: main |
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