Publisher Correction: Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site.

Autor: Godwin ARF; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Dajani R; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Zhang X; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Thomson J; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes DF; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Adamo CS; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Sengle G; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Center for Musculoskeletal Biomechanics, Cologne, Germany., Sherratt MJ; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Roseman AM; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Baldock C; Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. clair.baldock@manchester.ac.uk.

Publikováno v: Nature structural & molecular biology [Nat Struct Mol Biol] 2023 Oct; Vol. 30 (10), pp. 1608.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Autor: Adamo CS; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Beyens A; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., Schiavinato A; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Istituto Di Patalogia Clinica, Azienda Sanitaria Universitaria Integrata di Udine (ASUID), 33100 Udine, Italy., Keene DR; Research Division, Shriners Hospital for Children, Portland, OR 97239, USA., Tufa SF; Research Division, Shriners Hospital for Children, Portland, OR 97239, USA., Mörgelin M; Division of Infection Medicine, Department of Clinical Sciences, Lund University, 22242 Lund, Sweden; Colzyx AB, 22363 Lund, Sweden., Brinckmann J; Department of Dermatology and Institute of Virology and Cell Biology, University of Lübeck, 23562 Lübeck, Germany., Sasaki T; Department of Biochemistry II, Faculty of Medicine, Oita University, Oita 870-1192, Japan., Niehoff A; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany., Dreiner M; Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany., Pottie L; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Muiño-Mosquera L; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Pediatric Cardiology, Ghent University Hospital, 9000 Ghent, Belgium., Gulec EY; Department of Medical Genetics, Istanbul Medeniyet University Medical School, 34720 Istanbul, Turkey; Department of Medical Genetics, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, 34722 Istanbul, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey., Braghetta P; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy., Bonaldo P; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy., Wagener R; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Paulsson M; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany., Bornaun H; Department of Pediatric Cardiology, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey., De Rycke R; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., De Bruyne M; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., Baeke F; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., Devine WP; Department of Pathology, University of California San Francisco, San Francisco, CA 94115, USA., Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA., Tam A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA., Balasubramanian M; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; Department of Oncology and Metabolism, The University of Sheffield, Sheffield S10 2TN, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Moore S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Symoens S; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Shen J; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA., Cole S; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA., Schwarze U; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA., Holmes KW; Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682041, India., Davis EC; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada., Sakai LY; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Sengle G; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany. Electronic address: gsengle@uni-koeln.de., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address: bert.callewaert@ugent.be.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2230-2252. Date of Electronic Publication: 2022 Nov 08.

Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.

Autor: Stanworth, Mark¹ (AUTHOR) Stanworth-M@ulster.ac.uk, Zhang, Shu-Dong¹ (AUTHOR) Stanworth-M@ulster.ac.uk

Publikováno v: PLoS ONE. 10/31/2024, Vol. 19 Issue 10, p1-31. 31p.

Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

Autor: Carlisle, Steven G.¹ (AUTHOR), Albasha, Hasan² (AUTHOR), Michelena, Hector I.³ (AUTHOR), Sabate-Rotes, Anna⁴ (AUTHOR), Bianco, Lisa⁴ (AUTHOR), De Backer, Julie⁵ (AUTHOR), Mosquera, Laura Muiño⁵ (AUTHOR), Yetman, Anji T.⁶ (AUTHOR), Bissell, Malenka M.⁷ (AUTHOR), Andreassi, Maria Grazia⁸ (AUTHOR), Foffa, Ilenia⁸ (AUTHOR), Hui, Dawn S.⁹ (AUTHOR), Caffarelli, Anthony¹⁰ (AUTHOR), Kim, Yuli Y.¹¹ (AUTHOR), Guo, Dongchuan¹ (AUTHOR), Citro, Rodolfo¹² (AUTHOR), De Marco, Margot¹³ (AUTHOR), Tretter, Justin T.¹⁴ (AUTHOR), McBride, Kim L.¹⁵ (AUTHOR), Milewicz, Dianna M.¹ (AUTHOR)

Publikováno v: PLoS ONE. 9/6/2024, Vol. 19 Issue 9, p1-16. 16p.

Elastin and collagen fibres in cutaneous wound healing.

Autor: Gardeazabal L; Biogipuzkoa Health Research Institute, Tissue Engineering Group, Donostia-San Sebastián, Spain., Izeta A; Biogipuzkoa Health Research Institute, Tissue Engineering Group, Donostia-San Sebastián, Spain.; Department of Biomedical Engineering and Sciences, Tecnun-University of Navarra, Donostia-San Sebastián, Spain.

Publikováno v: Experimental dermatology [Exp Dermatol] 2024 Mar; Vol. 33 (3), pp. e15052.