Zobrazeno 31 - 40
of 83
pro vyhledávání: '"Sander Pajusalu"'
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:
Narayanan Veeraraghavan, Pankaj B. Agrawal, Paul Billings, Keri Ramsey, Casie A. Genetti, Martin G. Reese, Jeanette McCarthy, Terence C. Wong, Marcus Naymik, Catherine A. Brownstein, Vinodh Narayanan, Barry Moore, Britt Sabina Löscher, Mark Yandell, Francisco M. De La Vega, Edgar Javier Hernandez, Kiely N. James, Matthew J. Huentelman, Braden E. Boone, Shawn Levy, Stephen F. Kingsmore, Lucia Guidugli, Andre Franke, Erwin Frise, Shimul Chowdhury, Sander Pajusalu, Alan H. Beggs, Katrin Õunap
Publikováno v:
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds
Autor:
Karin Asser, Sander Pajusalu, Pille Tammur, Konstantin Ridnõi, Ustina Šamarina, Kai Muru, Ferenc Szirko, Tiia Reimand, Eva-Liina Ustav, Katrin Õunap, Maria Keernik, Tiina Kahre, Triin Mölter-Väär
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background Introduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive test
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000. In contrast, the prevalence of other CDG types remains unknow
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:
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:
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