Histone H3.3 beyond cancer: Germline mutations in

Autor: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj

Publikováno v: Science Advances

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074d
https://pubmed.ncbi.nlm.nih.gov/33268356

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Autor: Marwan Shinawi, Jessica Van Ziffle, Carsten G. Bönnemann, Mohamad A. Mikati, Vandana Shashi, Konrad Platzer, Manju A. Kurian, Katy Barwick, Kathleen A. Leppig, Patrick Devine, F. Lucy Raymond, Tomi L. Toler, Johan Lundgren, Koen L.I. van Gassen, Anne Slavotinek, Saskia N. van der Crabben, Wendy K. Chung, Richard H. van Jaarsveld, Matias Wagner, Rikke S. Møller, Marie T. McDonald, Pia Zacher, Kristen Wigby, Heather C Mefford, Dewi P. Bakker, Jennifer Friedman, Angus John Clarke, Joseph T. Shieh, Holly E. Babcock, Julian R. Sampson, Amy McTague, Jamal Ghoumid, Bernt Popp, Saskia B. Wortmann, Emma Hobson, Michaela Bonfert, Gabriella Horvath, Chiara Klöckner, Virgina Lee, Cyril Mignot, Yuri A. Zarate, Jennifer A. Sullivan, Marie-José H. van den Boogaard, Johannes R. Lemke, Alba Sanchis-Juan, Tommy Stödberg, Heinrich Sticht, Eva H. Brilstra, Alyssa Gates, Caroline Nava, Nicholas Stong, Sandra Donkervoort, Alexandrea Wadley, Boris Keren, Jamie L. Fraser, Ashley C. Taylor, Jennifer Keller-Ramey

Publikováno v: Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Genetics in medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 653-660. Lippincott Williams and Wilkins

Purpose\ud This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.\ud \ud Met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca6748143067988ef44bdb8b93decc
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2

Autor: Alexandrea Wadley, Klaas J. Wierenga, Aamina Shakir, Gabriela Purcarin

Publikováno v: Clinical Case Reports

Key Clinical Message We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcab85725e4bc1b9f3604b6da86c395b
http://europepmc.org/articles/PMC6132111

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Autor: Kirsty McWalter, Susan M. Hiatt, Vincent Laugel, Megan A. Waldrop, Jean-Marc Egly, Ronit Marom, Cédric Le Caignec, Klaas J. Wierenga, Olivier Pichon, Jill A. Rosenfeld, Amanda Gerard, Michelle L. Thompson, Bertrand Isidor, Mathilde Nizon, Stéphane Bézieau, Marion Gérard, Megan T. Cho, Alexandrea Wadley, Klaus Dieterich, Kevin M. Flanigan, Matthew Pastore, Rui Xiao

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2019, ⟨10.1038/s41436-019-0557-3⟩
Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0557-3⟩

Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aab32385ae2df8d7bdcff23e4f4eda3
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268425

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Autor: Marwan Shinawi, Johan Lundgren, Jennifer A. Sullivan, Katy Barwick, Jessica Van Ziffle, Eva H. Brilstra, Tomi L. Toler, Alyssa Gates, Carsten G. Bönnemann, Amy McTague, Dewi P. Bakker, Manju A. Kurian, Saskia N. van der Crabben, Jamal Ghoumid, Ashley C. Taylor, F. Lucy Raymond, Yuri A. Zarate, Patrick Devine, Pia Zacher, Heather C Mefford, Marie T. McDonald, Konrad Platzer, Emma Hobson, Holly E. Babcock, Jennifer Keller-Ramey, Gabriella Horvath, Anne Slavotinek, Caroline Nava, Koen L.I. van Gassen, Richard H. van Jaarsveld, Chiara Klöckner, Virgina Lee, Cyril Mignot, Jamie L. Fraser, Angus John Clarke, Nicholas Stong, Bernt Popp, Wendy K. Chung, Jennifer Friedman, Johannes R. Lemke, Alexandrea Wadley, Julian R. Sampson, Rikke S. Møller, Tommy Stödberg, Michaela Bonfert, Mohamad A. Mikati, Kathleen A. Leppig, Sandra Donkervoort, Vandana Shashi, Boris Keren, Heather M. McLaughlin, Matias Wagner, Kristen Wigby, Marie-José H. van den Boogaard, Alba Sanchis-Juan, Heinrich Sticht, Joseph T. Shieh, Saskia B. Wortmann

Publikováno v: Genetics in Medicine. 23:796

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78dca490bdfbc6bbc680d086f45d9d15
https://doi.org/10.1038/s41436-020-01090-w