TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Autor: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.

Publikováno v: In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691

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KMT2D loss drives aggressive tumor phenotypes in cutaneous squamous cell carcinoma

Autor: Dauch, Cara, Shim, Sharon, Cole, Matthew Wyatt, Pollock, Nijole C, Beer, Abigail J, Ramroop, Johnny, Klee, Victoria, Allain, Dawn C, Shakya, Reena, Knoblaugh, Sue E, Kulewsky, Jesse, Toland, Amanda Ewart

Publikováno v: Am J Cancer Res

Cutaneous squamous cell carcinoma (cSCC) is the second most lethal skin cancer. Due to ultraviolet light-induced damage, cSCCs have a high mutation rate, but some genes are more frequently mutated in aggressive cSCCs. Lysine-specific histone methyltr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a644be4bc7a225d250dfb34f4ed7d57b
https://europepmc.org/articles/PMC8984905/

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

Autor: Stegmann JD; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de., Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany., Ishorst N; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK., Ho YM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK., Grote P; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany., Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Channab K; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Boschann F; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Heinen A; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Jolly A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA., Myers K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA., McBride K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA., Bekheirnia MR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA., Bekheirnia N; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Morleo M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Nigro V; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Torella A; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy., Capra V; Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland., Spano A; MBBM Foundation, Monza, Italy., Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea., Steinbauer P; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria., Rieder D; Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria., Vogel I; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Cohen JL; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA., Riley K; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Klee V; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA., Walsh LE; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Stoppe A; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany., Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mulhern MS; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA., Sands TT; Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA., Cytrynbaum C; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada., Weksberg R; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Isidori F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Severi G; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany., Hagelueken G; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany., Geyer M; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Posey JE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany., Hilger AC; Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. alina.hilger@uk-erlangen.de.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 Mar 01; Vol. 9 (1), pp. 18. Date of Electronic Publication: 2024 Mar 01.