Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Gunnar, Houge"'
Autor:
Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Type I interferon (IFN) signalling is tightly controlled. Upon recognition of DNA by cyclic GMP-AMP synthase (cGAS), stimulator of interferon genes (STING) translocates along the endoplasmic reticulum (ER)-Golgi axis to induce IFN signalling
Externí odkaz:
https://doaj.org/article/b099f69003f848078aba66c1696bcd67
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown
Publikováno v:
Clinical Dysmorphology. 32:49-54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8333425eaa167ab3fd367cf0a6a84320
https://doi.org/10.1097/mcd.0000000000000455
https://doi.org/10.1097/mcd.0000000000000455
Autor:
Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge, Thomas Arnesen
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorde
Externí odkaz:
https://doaj.org/article/da7eb6f3039643e8aba2eae9dcc0b38e
Publikováno v:
American Journal of Medical Genetics Part A. 188:2790-2795
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16f881f5e53a86e36c42ed37a90690d
https://doi.org/10.1002/ajmg.a.62868
https://doi.org/10.1002/ajmg.a.62868
Autor:
Ileana Cristea, Hugo Abarca, Anne E. Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J. M. Peters, Gunnar Houge, Raoul C. M. Hennekam, Eyvind Rødahl, Ove Bruland, Cecilie Bredrup
Publikováno v:
FEBS letters. Wiley-Blackwell
Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but are otherwise healthy. In a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faae597b6f3f313d39dfd08051c7960c
https://pure.amc.nl/en/publications/a-pellino2-variant-is-associated-with-constitutive-nlrp3-inflammasome-activation-in-a-family-with-ocular-pterygiumdigital-keloid-dysplasia(d974df55-4334-45ef-bd49-50f070d4f84d).html
https://pure.amc.nl/en/publications/a-pellino2-variant-is-associated-with-constitutive-nlrp3-inflammasome-activation-in-a-family-with-ocular-pterygiumdigital-keloid-dysplasia(d974df55-4334-45ef-bd49-50f070d4f84d).html
Autor:
Noeline Nadarajah, Mark D. Kilby, Maja Hempel, Stephanie E. Vallee, Silvia Martin-Almedina, Rhiannon Mellis, Dionysios Grigoriadis, Sarah Robart, Sahar Mansour, Mary Beth Dinulos, Ege Sackey, Giles Atton, Wolf-Henning Becker, Christina Karapouliou, Kazim Ogmen, Fanny Kortuem, Katherine S. Josephs, Gunnar Houge, Cathrine Ebbing, Pia Ostergaard, Kristiana Gordon, Steve Jeffery, Peter S. Mortimer, Jerome L. Gorski, Axel von der Wense, Alexandra Robinson, Cassandra Polun, Siren Berland, Jenny Lord, Hallvard Reigstad, Sherri J. Bale
Publikováno v:
Genetics in Medicine
PurposeSeveral clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85bb601a79f9c38fc8b3b3bf5d3e3c5
https://doi.org/10.1038/s41436-021-01136-7
https://doi.org/10.1038/s41436-021-01136-7
Autor:
Dinka Smajlagic, Ksenia Lavrichenko, Pål R. Njølstad, Gun Peggy Knudsen, Siren Berland, Marc Vaudel, Stefan Johansson, Per M. Knappskog, Øyvind Helgeland, Jan Haavik, Gunnar Houge
Publikováno v:
European Journal of Human Genetics
Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone to recurrent deletions and dup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8eb5e6f50d334b6661654aa946ad2b
https://doi.org/10.1038/s41431-020-00707-7
https://doi.org/10.1038/s41431-020-00707-7
Autor:
Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8
Autor:
Dena R. Matalon, Roya Bina, Brieana Fregeau, Gunnar Houge, Kyra E. Stuurman, A. James Barkovich, Elliott H. Sherr, Renee Bend, Ingvild Aukrust, Jacqueline Joani Tarsitano, Hannah Warren, Roger E. Stevenson
Publikováno v:
Journal of Medical Genetics, 57(7), 461-465. BMJ Publishing Group
J Med Genet
Journal of medical genetics, vol 57, iss 7
J Med Genet
Journal of medical genetics, vol 57, iss 7
IntroductionWhole-exome sequencing (WES) has identified de novo variants in chromatin remodelling genes in patients with neurodevelopmental disorders (NDD). We report on a novel genetic discovery in chromatin remodelling in patients with NDD who also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a223865f28ee4461d88a96894e8bd659
https://doi.org/10.1136/jmedgenet-2019-106193
https://doi.org/10.1136/jmedgenet-2019-106193