Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Berkley Schmidt"'
Autor:
Nina McTiernan, Lisbeth Tranebjærg, Anna S. Bjørheim, Jacob S. Hogue, William G. Wilson, Berkley Schmidt, Melissa M. Boerrigter, Maja L. Nybo, Marie F. Smeland, Zeynep Tümer, Thomas Arnesen
Publikováno v:
Human Genetics
Human Genetics, 141, 1355-1369
McTiernan, N, Tranebjærg, L, Bjørheim, A S, Hogue, J S, Wilson, W G, Schmidt, B, Boerrigter, M M, Nybo, M L, Smeland, M F, Tümer, Z & Arnesen, T 2022, ' Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation ', Human Genetics, vol. 141, pp. 1355–1369 . https://doi.org/10.1007/s00439-021-02427-4
Human Genetics, 141, 1355-1369
McTiernan, N, Tranebjærg, L, Bjørheim, A S, Hogue, J S, Wilson, W G, Schmidt, B, Boerrigter, M M, Nybo, M L, Smeland, M F, Tümer, Z & Arnesen, T 2022, ' Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation ', Human Genetics, vol. 141, pp. 1355–1369 . https://doi.org/10.1007/s00439-021-02427-4
NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at least 21 different NAA10 missense variants have been reported as patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85028bb7bef013de9253d0a2020abaa2
https://hdl.handle.net/11250/2997244
https://hdl.handle.net/11250/2997244
Autor:
Ian R. Berry, Martin R. Larsen, Ann M. Neumeyer, Lilian Bomme Ousager, Leah J. Rowe, Richard E. Person, Chanika Phornphutkul, David A. Koolen, Constance T. R. M. Stumpel, Konrad Platzer, Elizabeth J. Bhoj, Eric Chater-Diehl, Jason Bunn, Erika Leenders, Koen L.I. van Gassen, Joshua Charkow, Rosanna Weksberg, Ny Hoang, Roos Cuperus, Davor Lessel, Rolph Pfundt, Oana Caluseriu, Sarah J. Goodman, Leandra Folk, Fanggeng Zou, Michelle T. Siu, David Chitayat, Dmitrijs Rots, Jeroen R. Vermeulen, Shuxi Liu, Cheryl Cytrynbaum, Elin Tønne, Hein Brackel, Mareike Mertens, Jennifer Campbell, Jonathan B. Strober, Maja Hempel, Tjitske Kleefstra, Małgorzata J.M. Nowaczyk, Amy Crunk, Marta Pacio-Míguez, Fernando Santos-Simarro, Nicola Brunetti-Pierri, Christa de Geus, María Palomares-Bralo, Lisenka E.L.M. Vissers, Sander Pajusalu, Peter Kannu, Sanaa Choufani, Kristin Lindstrom, Margarita Saenz, Berkley Schmidt, Daniëlle G.M. Bosch, Han G. Brunner, Arie van Haeringen, Ellen van Binsbergen, Brianna Pruniski, Claudia A. L. Ruivenkamp, William G. Wilson, Servi J. C. Stevens, Susan Walker, Kristian Tveten, Zain Awamleh, Gerarda Cappuccio, Alexander J. M. Dingemans, Michael Kwint, Ebba Alkhunaizi, Jonas Denecke, Alyssa Ritter, Eric W. Klee, Bert B.A. de Vries, Jeske V.T. van Harssel, Stephen Meyn, A. Chantal Deden, Francisca Millan, Eva Morava, Ingrid M. Wentzensen, Anne Slavotinek, Stephen W. Scherer, Katrin Õunap, Tuula Rinne, Jessica A. Radley, Yili Xie, Thatjana Gardeitchik, Laura Schultz-Rogers, Karit Reinson, Ronald D. Cohn, Hui Yang
Publikováno v:
American journal of human genetics, vol 108, iss 6
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press
Contains fulltext : 234078.pdf (Publisher’s version ) (Open Access) Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d030c3d4e791377a8f96b90170fc8
https://escholarship.org/uc/item/16q9g96p
https://escholarship.org/uc/item/16q9g96p
Autor:
Elizabeth Roeder, Simone Mandelstam, Alicia Guemez-Gamboa, Ingrid E. Scheffer, Satoko Kumada, Emily Bryant, Lance H. Rodan, Berkley Schmidt, Jessica Giannelli, Kyle R Christensen, Kirsty McWalter, Kazuhiro Iwama, John Millichap, Alison M. Muir, Egidio Spinelli, Tiziano Pisano, Heather C Mefford, Linda Laux, Renzo Guerrini, Eva H. Brilstra, Rebecca O. Littlejohn, Amy L Schneider, Carmen Barba, Gemma L. Carvill, Naomichi Matsumoto, Elysa J. Marco, Angus C. Nairn, William G. Wilson, Jennifer Rakotomamonjy, Richard H. van Jaarsveld
ObjectiveThe MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been associated with neurological disease, with de novo va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32f1eb573df871ce718e8a420d82fdea
https://doi.org/10.1101/2021.03.09.434675
https://doi.org/10.1101/2021.03.09.434675