Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Hans Tómas Björnsson"'
Autor:
Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan
Publikováno v:
TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002
https://doi.org/10.1016/j.ajhg.2022.03.002
Autor:
Sarah Jessica Goodman, Teresa Romeo Luperchio, Jacob Ellegood, Eric Chater-Diehl, Jason P. Lerch, Hans Tomas Bjornsson, Rosanna Weksberg
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-13 (2023)
Abstract Background Recent findings from studies of mouse models of Mendelian disorders of epigenetic machinery strongly support the potential for postnatal therapies to improve neurobehavioral and cognitive deficits. As several of these therapies mo
Externí odkaz:
https://doaj.org/article/924b70ecb8c540bd972e3b4feab6e70d
Autor:
Viktor Ingi Agustsson, Pall Asgeir Bjornsson, Ashildur Fridriksdottir, Hans Tomas Bjornsson, Lotta Maria Ellingsen
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101884- (2024)
Purpose: Emerging therapeutic strategies for Kabuki syndrome (KS) make early diagnosis critical. Fingerprint analysis as a diagnostic aid for KS diagnosis could facilitate early diagnosis and expand the current patient base for clinical trials and na
Externí odkaz:
https://doaj.org/article/9d9d988a0a0e4bd4a4924519e6c7ca06
Autor:
Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 65-70 (2023)
Abstract Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA‐approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting i
Externí odkaz:
https://doaj.org/article/2a1b65d79cfc44da9295673fe3a0a559
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutation in KMT2A and characterized by neurodevelopmental delay. This study is the first prospective investigation to examine the sleep and behavioral phenotypes among those with W
Externí odkaz:
https://doaj.org/article/d3b35b03d0c548aeb66e98567de5e89b
Autor:
Allison J. Kalinousky, Tyler Rapp, Hadia Hijazi, Jennifer Johnson, Hans Tomas Bjornsson, Jacqueline R. Harris
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representat
Externí odkaz:
https://doaj.org/article/f72da1e1062b4440a0637ec998db9fb1
Autor:
Dagbjört Agnarsdóttir, Vaka Kristín Sigurjónsdóttir, Arna Rut Emilsdóttir, Erna Petersen, Gunnlaugur Sigfússon, Ingólfur Rögnvaldsson, Leifur Franzson, Hilary Vernon, Hans Tomas Bjornsson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic fo
Externí odkaz:
https://doaj.org/article/032d77aac2c34f4d994c27007142cd2b
Publikováno v:
PLoS Genetics, Vol 18, Iss 6, p e1010278 (2022)
Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial
Externí odkaz:
https://doaj.org/article/d171f93bf71f4522939a71304fe57185
Autor:
Li Zhang, Genay Pilarowski, Emilio Merlo Pich, Atsushi Nakatani, John Dunlop, Rina Baba, Satoru Matsuda, Masaki Daini, Yasushi Hattori, Shigemitsu Matsumoto, Mitsuhiro Ito, Haruhide Kimura, Hans Tomas Bjornsson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 779-791 (2021)
Kabuki syndrome (KS) is a rare cause of intellectual disability primarily caused by loss-of-function mutations in lysine-specific methyltransferase 2D (KMT2D), which normally adds methyl marks to lysine 4 on histone 3. Previous studies have shown tha
Externí odkaz:
https://doaj.org/article/6bb431629e2043e29d57edb98e0cfd0f
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Externí odkaz:
https://doaj.org/article/1f3ad189544342778a66ebda08627a15