Zobrazeno 1 - 10
of 73
pro vyhledávání: '"David B Beck"'
Autor:
Anthony J. Asmar, Shaun R. Abrams, Jenny Hsin, Jason C. Collins, Rita M. Yazejian, Youmei Wu, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim Werner
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and neural crest-derived craniofacial structures are unclear. Here, biochemical disease-var
Externí odkaz:
https://doaj.org/article/3f2a910eb8564c0e87eee9613f5e8c06
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation
Externí odkaz:
https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345
Autor:
Faris Alhomida, MD, David B. Beck, MD, PhD, Tracy I. George, MD, Andrew Shaffer, MD, Dorota Lebiedz-Odrobina, MD, Tibor Kovacsovics, MD, Lauren M. Madigan, MD
Publikováno v:
JAAD Case Reports, Vol 14, Iss , Pp 111-113 (2021)
Externí odkaz:
https://doaj.org/article/d1a583f5ce084c76bf6cdb5f1cbaaca6
Autor:
Patrice E. Poubelle, Nathalie Pagé, Marie-Pier Longchamps, Natalia Sampaio Moura, David B. Beck, Ivona Aksentijevich, Philippe A. Tessier, Martin Pelletier
Publikováno v:
Clinical and Translational Medicine, Vol 8, Iss 1, Pp 1-10 (2019)
Abstract Background Biological agents have allowed remarkable improvement in controlling autoimmune arthropathies, although none of the numerous biologics readily available represent a universal treatment standard. Moreover, classical and genetic pre
Externí odkaz:
https://doaj.org/article/2b22c7caa26e48a6ac4cd3716497fc4c
Autor:
Hannah Cherniawsky, Jordan Friedmann, Hamish Nicolson, Natasha Dehghan, Ryan J. Stubbins, Lynda M. Foltz, Heather A. Leitch, Gayatri M. Sreenivasan, Kimberley L. S. Ambler, Thomas J. Nevill, Eric McGinnis, Lorena Wilson, David B. Beck, Luke Y. C. Chen, Krista M. Marcon
Publikováno v:
European Journal of Haematology. 110:633-638
Autor:
S. Vijayalingam, Uthayashanker R. Ezekiel, Fenglian Xu, T. Subramanian, Elizabeth Geerling, Brittany Hoelscher, KayKay San, Aravinda Ganapathy, Kyle Pemberton, Eric Tycksen, Amelia K. Pinto, James D. Brien, David B. Beck, Wendy K. Chung, Christina A. Gurnett, G. Chinnadurai
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016, 2019; Sommerville et al., 2017). All reported patients harbor a single recurrent de novo heterozy
Externí odkaz:
https://doaj.org/article/cc8794b9e5dc4cbc85454c3988a17fdc
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a
Autor:
Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-κB signaling and thus proper innate and adaptive immunity. To date only one patient with HOIP deficiency has been reported
Externí odkaz:
https://doaj.org/article/8af4a14f355248ea9daee0527dcd8fbe
Autor:
David B. Beck, Ivona Aksentijevich
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In contrast to classical primary immunodeficiencies that manifest with impaired immune respon
Externí odkaz:
https://doaj.org/article/8fb0ccf1e2a749259d064cf876437938
Autor:
Fernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, Terra L Lasho, Ruba N Shalhoub, Xiaoyang Ma, Hugh Alessi, Christy M. Finke, Matthew J. Koster, Abhishek A. Mangaonkar, Kenneth J Warrington, Kebede Begna, Zhuoer Xie, Amanda K Ombrello, David S Viswanatha, Marcela A. Ferrada, Lorena Wilson, Ronald S. Go, Taxiarchis V. Kourelis, Kaaren K Reichard, Horatiu Olteanu, Ivana Darden, Dalton Hironaka, Lemlem Alemu, Sachiko Kajigaya, Rodrigo T. Calado, Emma M. Groarke, Sofia Rosenzweig, Daniel L Kastner, Katherine R Calvo, Colin O. Wu, Peter C. Grayson, Neal S Young, David B. Beck, Bhavisha A. Patel, Mrinal M. Patnaik
Publikováno v:
Blood Journal.
VEXAS is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic auto-inflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic syndrome (MDS) and plasma cell dyscrasias. The landsc