Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sander Pajusalu"'
Autor:
Claudia A. L. Ruivenkamp, Lewis Pang, Nienke P. Dosa, Gemma L. Carvill, Rolph Pfundt, Joseph Junewick, Geoffrey T. Swanson, Nicole de Leeuw, Xing-Chang Wei, Katrin Õunap, Cacha M.P.C.D. Peeters-Scholte, Jacob R. Stolz, Reelika Part, Ionella Rebane, Zornitza Stark, Karen J. Low, Kendall M. Foote, Edwin P. Kirk, Joanna Kennedy, Steven M. Sperber, Sebastian Lunke, Sander Pajusalu, R. Curtis Rogers, Robert Roger Lebel, Jessica M. Davis, Hermine E. Veenstra-Knol, Sanne W. ten Broeke, Raymond J. Louie, A. Micheil Innes, Boris Keren, Ai Sakonju, Daniela Q.C.M. Barge-Schaapveld, John Christodoulou, Paul R. Mark, John A. Lawson, Bregje W.M. van Bon, Laura Roht, Cyril Mignot, Sian Ellard
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709
Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disabi
Autor:
Kimia Kahrizi, Tomáš Mráček, Hector Diaz-Maldonado, Maria Falkenberg, Safoora B. Syeda, Penelope E. Bonnen, Stanislav Kmoch, Peter B. Kang, Zuzana Korandová, Emily Hoberg, Bradley Peter, Lauren Brady, K. Nicole Weaver, Louis M. Kunkel, Alena Pecinová, Mark A. Tarnopolsky, Zsolt Szilagyi, Hossein Najmabadi, Meenakshi Singh, Ewen W. Sommerville, Sasigarn A. Bowden, Elicia Estrella, Kim L. McBride, Hans-Hilger Ropers, Grainne S. Gorman, Emma L. Blakely, Claes M. Gustafsson, Viktor Stránecký, Christine C. Bruels, Monika Oláhová, Sander Pajusalu, Carlos E. Prada, Jack J Collier, Katrin Õunap, Lynn Pais, Hana Hartmannová, Monica H. Wojcik, Robert W. Taylor, Anthony J. Bleyer
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Nature Communications
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here,
Autor:
Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
Publikováno v:
Am J Hum Genet
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ab5c5b8f69c8ad3cfea21fe152f5f9
https://europepmc.org/articles/PMC8059373/
https://europepmc.org/articles/PMC8059373/
Autor:
Sander Pajusalu, Inga Talvik, Raymond Y. Wang, Daniel L. Kastner, Achim Werner, Mohammed Abul Basar, Precilla D'Souza, Katrin Õunap, Yutaka Nishimura, Johji Inazawa, Ken Saida, Ellen Macnamara, David B. Beck, Anthony J. Asmar, Kristin W. Barañano, Hirotsugu Oda, Marlies Kempers, Weiyi Mu, Naomichi Matsumoto, Joann Bodurtha, Tomoki Kosho, Joyce J. Thompson, Pedro P. Rocha, Ivona Aksentijevich, Apratim Mitra, Magdalena Walkiewicz, Tomoko Tamada, Ryan K. Dale, Satoshi Okada, Daniela Tiaki Uehara, Noriko Miyake, Cynthia J. Tifft
Publikováno v:
Science Advances, 7, 4
Science Advances
Science Advances, 7
Science Advances
Science Advances, 7
Disease-causing mutations in a linkage-specific deubiquitylase provide insights into chromatin remodeling during embryogenesis.
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. I
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685f6090f52ead44cd34ca0941bfa4a1
https://hdl.handle.net/2066/230561
https://hdl.handle.net/2066/230561
Autor:
Eleanor G. Seaby, Marwan Shinawi, Raymond J. Louie, Aida Telegrafi, Suzanne M. Leal, Julien Buratti, Ana Petracovici, David B. Beck, Muhammad Arif Nadeem Saqib, Boris Keren, Sivagamy Sithambaram, Muhammad Zahid, Marie-Christine Nougues, Sander Pajusalu, Jill A. Fahrner, Eloise J. Prijoles, G. Bradley Schaefer, Dustin Baldridge, Trudie Cottrell, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Tiia Reimand, Muhammad Ansar, Kirsty McWalter, Sofia Douzgou, Cyril Mignot, Siddharth Banka, Hannah W. Moore, Chongsheng He, Roger E. Stevenson, Katrin Õunap, Renee Bend
Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b252a93b681045e4e6abb069876ac02
Autor:
Tiia Reimand, Kirsty McWalter, Eleanor G. Seaby, G. Bradley Schaefer, Marwan Shinawi, Muhammad Arif Nadeem Saqib, Aida Telegrafi, Ana Petracovici, Sander Pajusalu, Jill A. Fahrner, David B. Beck, Chongsheng He, Hannah W. Moore, Suzanne M. Leal, Raymond J. Louie, Siddharth Banka, Renee Bend, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Boris Keren, Marie Christine Nougues, Eloise J. Prijoles, Muhammad Ansar, Katrin Õunap, Roger E. Stevenson, Julien Buratti, Sofia Douzgou, Cyril Mignot, Sivagamy Sithambaram, Trudie Cottrell, Dustin Baldridge, Muhammad Zahid
Publikováno v:
Am J Hum Genet
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007
Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylatio
Autor:
Giuseppe Matullo, Brett H. Graham, Elisa Coluzzi, Karit Reinson, Antonella Sgura, Monica H. Wojcik, Luca Pannone, Melissa P. Wasserstein, Lucia Pedace, Seema R. Lalani, Elena Carcarino, Daniela Q.C.M. Barge-Schaapveld, Anke Van Dijck, Austin Larson, Giovanna Carpentieri, Alessandro Bruselles, Simona Petrucci, Simone Pizzi, Elisabetta Flex, Cornelia Di Gaetano, Francesca Clementina Radio, Bruno Dallapiccola, Serena Cecchetti, Clara Viberti, Enrico Bertini, Chieko Chijiwa, Emilia K. Bijlsma, Elisabetta Ferretti, William J. Craigen, Cristina Andreoli, Brian G. Skotko, Daan J. Kamphuis, Alessandro De Luca, J. Louw Roos, Giuseppina Catanzaro, Sandra Kenis, Mariëtte J.V. Hoffer, Katrin Õunap, Maria Karayiorgou, Gijs W. E. Santen, Annette P.M. van den Elzen, Kathleen Brown, Haley Streff, M. E. Suzanne Lewis, Claudia A. L. Ruivenkamp, Xiaoyan Ge, Andrea Ciolfi, Nathalie Van der Aa, Marco Tartaglia, Rossella Rota, Amber Begtrup, Richard E. Person, Simone Martinelli, Koen L.I. van Gassen, R. Frank Kooy, Marije Meuwissen, Magdalena Walkiewicz, Evelina Miele, Marije Koopmans, Sander Pajusalu
Publikováno v:
The American journal of human genetics
American Journal of Human Genetics, 105(3), 493. Cell Press
American Journal of Human Genetics, 105(3), 493-508. CELL PRESS
American Journal of Human Genetics, 105(3), 493. Cell Press
American Journal of Human Genetics, 105(3), 493-508. CELL PRESS
Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4aede8a428ff2cc48fd476c697e3a3
http://hdl.handle.net/11573/1383117
http://hdl.handle.net/11573/1383117
Autor:
Olivier Vanakker, Maria Kirchhoff, Christian Gilissen, Jenny Morton, Ineke van der Burgt, Kelly Radtke, Tugce Aktas, Sarah Vergult, Diana Johnson, Tobias Rumpf, Tony Roscioli, André Reis, Alan Fryer, Salima El Chehadeh, Christel Thauvin-Robinet, Ange Line Bruel, Rolph Pfundt, Sander Pajusalu, David Francis, Asifa Akhtar, Iben Bache, Tiong Yang Tan, Vera M. Kalscheuer, Meredith Wilson, Björn Menten, Giuseppe Semplicio, Julien Thevenon, Richard Fisher, Yannis Duffourd, Gerhard Mittler, Witold G. Szymanski, M. Felicia Basilicata, Victoria McKay, Kristin Lindstrom, Han G. Brunner, Katrin Õunap, Jaya Ganesh, Claudia Isabelle Keller Valsecchi, Megan T. Cho, Laurence Faivre
Publikováno v:
Nature Genetics, 50, 1442-1451
Nature Genetics, 50(10), 1442-1451. Nature Publishing Group
Nature Genetics, 50, 10, pp. 1442-1451
Nature Genetics
Nature Genetics, Nature Publishing Group, 2018, 50 (10), pp.1442-1451. ⟨10.1038/s41588-018-0220-y⟩
Nat Genet
Nature Genetics, 50(10), 1442-1451. Nature Publishing Group
Nature Genetics, 50, 10, pp. 1442-1451
Nature Genetics
Nature Genetics, Nature Publishing Group, 2018, 50 (10), pp.1442-1451. ⟨10.1038/s41588-018-0220-y⟩
Nat Genet
International audience; The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eaa71589cbe2fa7af4514c06198a58d
http://hdl.handle.net/2066/196095
http://hdl.handle.net/2066/196095