Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Autor: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

Publikováno v: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c

Externí odkaz: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

Glutaredoxin 2 promotes SP-1-dependent CSPG4 transcription and migration of wound healing NG2 glia and glioma cells: Enzymatic Taoism

Autor: Christina Wilms, Klaudia Lepka, Felix Häberlein, Steven Edwards, Jörg Felsberg, Linda Pudelko, Tobias T. Lindenberg, Gereon Poschmann, Nan Qin, Katrin Volbracht, Tim Prozorovski, Sven G. Meuth, Ulf D. Kahlert, Marc Remke, Orhan Aktas, Guido Reifenberger, Lars Bräutigam, Benjamin Odermatt, Carsten Berndt

Publikováno v: Redox Biology, Vol 49, Iss , Pp 102221- (2022)

Redox regulation of specific cysteines via oxidoreductases of the thioredoxin family is increasingly being recognized as an important signaling pathway. Here, we demonstrate that the cytosolic isoform of the vertebrate-specific oxidoreductase Glutare

Externí odkaz: https://doaj.org/article/2e1d65566877484caf8912ee69a75699

X-linked variations in

Autor: Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak

Publikováno v: Journal of medical genetics.

Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse andIn this study, we identified putative disease-causing SNVs and CNVs inThe identified SNVs and CNVs in affected individuals with congenital anomalies of the u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::124f4aad97359a3afa8a9c9cd35ae6de
https://pubmed.ncbi.nlm.nih.gov/36379543

EZH2 specifically regulates ISL1 during embryonic urinary tract formation.

Autor: Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany.; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany., Kalanithy JC; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany.; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany., Dworschak G; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, 53127, Bonn, Germany., Ishorst N; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany., Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany., Lindenberg T; Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany., Hollstein R; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany., Felger T; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany., Angrand PO; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, F-59000, France., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany., Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany. b.odermatt@uni-bonn.de.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany. b.odermatt@uni-bonn.de.

Publikováno v: Scientific reports [Sci Rep] 2024 Oct 02; Vol. 14 (1), pp. 22909. Date of Electronic Publication: 2024 Oct 02.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Autor: Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Mingardo E; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA., Dakal TC; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dhabhai B; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dabbagh O; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan., Haider S; Department of Paediatric Medicine, Wah Medical College, Rawalpindi, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Nava C; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Institut du Cerveau et de la Moelle épinière, Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France., Héron D; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Heide S; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Valkanas E; Center for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Oates EC; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Children's Medical Research Institute, Westmead, NSW, Australia., MacArthur D; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Ziegler A; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Okur V; Department of Pediatrics, Columbia University, New York, NY, USA., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., O'Shea SA; Department of Neurology, Columbia University, New York, NY, USA., Alcalay R; Department of Neurology, Columbia University, New York, NY, USA., Fahn S; Department of Neurology, Columbia University, New York, NY, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital Grand Rapids, New York, MI, USA., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Hudson B; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Hoganson GE; Department of Pediatrics, University of Illinois, College of Medicine, Chicago, IL, USA., Burton JE; Department of Pediatrics, University of Illinois, College of Medicine, Peoria, IL, USA., McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, United Kingdom., Lindenberg T; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Yilmaz Ö; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1715-1725. Date of Electronic Publication: 2021 May 30.