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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Autor: Koparir A; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Lekszas C; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Keseroglu K; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Rose T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Rappl L; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Rad A; Cellular and Molecular Research Centre, Sabzevar University of Medical Sciences, Sabzevar, Iran., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Narendran N; University of Cincinnati College of Medicine, Cincinnati, OH, USA., Hasanzadeh A; Cellular and Molecular Research Centre, Sabzevar University of Medical Sciences, Sabzevar, 009851, Iran., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Klopocki E; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Özbudak EM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany., Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany., Liedtke D; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany. Daniel.liedtke@uni-wuerzburg.de.

Publikováno v: Human genomics [Hum Genomics] 2024 Mar 06; Vol. 18 (1), pp. 23. Date of Electronic Publication: 2024 Mar 06.

A design logic for sequential segmentation across organisms.

Autor: Simsek MF; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, OH, USA., Özbudak EM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, OH, USA.

Publikováno v: The FEBS journal [FEBS J] 2023 Nov; Vol. 290 (21), pp. 5086-5093. Date of Electronic Publication: 2023 Jul 11.