Zobrazeno 1 - 10
of 33
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:
Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
Publikováno v:
The American Journal of Human Genetics
Am J Hum Genet
Am J Hum Genet
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23 individuals with genetically unsolved
Autor:
Marios P. Stavridis, Mehmet Gundogdu, Sergio G. Bartual, Daan M. F. van Aalten, Andrew T. Ferenbach, Riina Žordania, Katrin Õunap, Veronica M. Pravata, Monica H. Wojcik, Sander Pajusalu
Publikováno v:
Febs Letters
'FEBS Letters ', vol: 594, pages: 717-727 (2020)
'FEBS Letters ', vol: 594, pages: 717-727 (2020)
X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O‐GlcNAc transferase encoded by OGT, a recently discovered XLID gene, attaches O‐GlcNAc to nuclear and cytoplasmic proteins. As few missense mutations have
Autor:
Nicholas E. Johnson, Nilah Ioannidis, Monkol Lek, Bradley A. Williams, Conrad C. Weihl, Sander Pajusalu, Laura E. Rufibach, Nicole J. Lake, Plavi Mittal, Geyu Zhou, Douglas E. Albrecht, Wei Liu
Publikováno v:
Genetics in Medicine. 21:2512-2520
Limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. However,
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:
Vallo Tillmann, Karit Reinson, Pille Mee, Rita Teek, Mari-Anne Vals, Tiina Kahre, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Riina Žordania, Katrin Õunap, Aleksandr Peet, Maria Yakoreva, Monica H. Wojcik
Publikováno v:
Eur J Hum Genet
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to de
Autor:
Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
Publikováno v:
Am J Med Genet A
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257
https://hdl.handle.net/11424/243257
Autor:
Kam-Tim Liu, Nick Shun-Ping Wu, Kate Lok-San Chan, Man-Mut Yau, Jan A.M. Smeitink, Li-Yan Tsung, Cheung Tsoi, Christopher C.Y. Mak, Mandy H.Y. Tsang, Sheila Wong, Brian H.Y. Chung, Anna Ka-Yee Kwong, Jasmine L.F. Fung, Richard J. Rodenburg, Shuk-Mui Tai, Eva Lai-Wah Fung, Monkol Lek, Sharon T. H. Fung, Eric Kin-Cheong Yau, Shushu Huang, Cheuk-Wing Fung, Sander Pajusalu, Che-Kwan Ma
Publikováno v:
Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Orphanet Journal of Rare Diseases, 16, 1
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Orphanet Journal of Rare Diseases, 16, 1
Background Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f826e11ecd98120aa7cf64344e958cb4
http://hdl.handle.net/2066/230163
http://hdl.handle.net/2066/230163
Autor:
Olga Fjodorova, Natalia H. Revelo, Eveline C F Gerretsen, Richard Arts, Kimiyo Raymond, Fokje Zijlstra, Martin ter Beest, Karin Huijben, Rinse de Boer, Angel Ashikov, Katrin Õunap, Mari-Anne Vals, Kai Muru, Geert van den Bogaart, Melissa Baerenfaenger, Peter T. A. Linders, Dirk Lefeber, Sander Pajusalu
Publikováno v:
Nature Communications, 12
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1
Nature Communications, 12(1):6227. Nature Publishing Group
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1
Nature Communications, 12(1):6227. Nature Publishing Group
The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the STX5 mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37a224e59f6199469bd35cf1f6d3b7e5
http://hdl.handle.net/2066/239969
http://hdl.handle.net/2066/239969
Autor:
Doreen Dobritzsch, Karit Reinson, Sanna Puusepp, Jeroen Roelofsen, André B.P. van Kuilenburg, Sander Pajusalu, Werner Stenzel, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100677-(2020)
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, 25:100677. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, 25:100677. Elsevier BV
The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndr