Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Autor: Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, KE

Publikováno v: Science advances, vol 6, iss 49

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e150b058bd130495dab0466be4d58f42
https://escholarship.org/uc/item/6fw0s88w

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Exome sequencing in children undiagnosed developmental delay and neurological illness

Autor: A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, Hempel*, Maja

Publikováno v: Dtsch. Arztebl. Int. 116, 197-204 (2019)

BACKGROUND: In developed countries, global developmental disorders are encountered in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investigati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1d331202d3de3f7416895a1cf13a90fb
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Autor: Horn, Denise, Chyrek, Magdalena, Kleier, Saskia, Lüttgen, Sabine, Bolz, Hanno, Hinkel, Georg-Klaus, Korenke, Georg Christoph, Rieß, Angelika, Schell-Apacik, Can, Tinschert, Sigrid, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kutsche, Kerstin

Publikováno v: European Journal of Human Genetics; May2005, Vol. 13 Issue 5, p563-569, 7p