Search Results - "Beck, David B"

Susceptibility to severe COVID-19 by Beck, David B, Aksentijevich, Ivona

“…Genetic variants and autoantibodies that suppress antiviral immunity are linked to severe COVID-19 The coronavirus disease 2019 (COVID-19) pandemic has led to…”
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PR-Set7 and H4K20me1: at the crossroads of genome integrity, cell cycle, chromosome condensation, and transcription by Beck, David B, Oda, Hisanobu, Shen, Steven S, Reinberg, Danny

“…Histone post-translational modifications impact many aspects of chromatin and nuclear function. Histone H4 Lys 20 methylation (H4K20me) has been implicated in…”
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Asymmetrically Modified Nucleosomes by Voigt, Philipp, LeRoy, Gary, Drury, William J., III, Zee, Barry M, Son, Jinsook, Beck, David B, Young, Nicolas L, Garcia, Benjamin A, Reinberg, Danny

“…Mononucleosomes, the basic building blocks of chromatin, contain two copies of each core histone. The associated posttranslational modifications regulate…”
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Novel somatic mutations in UBA1 as a cause of VEXAS syndrome by Poulter, James A., Collins, Jason C., Cargo, Catherine, De Tute, Ruth M., Evans, Paul, Ospina Cardona, Daniela, Bowen, David T., Cunnington, Joanna R., Baguley, Elaine, Quinn, Mark, Green, Michael, McGonagle, Dennis, Beck, David B., Werner, Achim, Savic, Sinisa

“…Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting…”
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Deubiquitylases in developmental ubiquitin signaling and congenital diseases by Basar, Mohammed A., Beck, David B., Werner, Achim

“…Metazoan development from a one-cell zygote to a fully formed organism requires complex cellular differentiation and communication pathways. To coordinate…”
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The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature by LoPresti, Marissa, Beck, David B., Duggal, Priya, Cummings, Derek A.T., Solomon, Benjamin D.

“…The SARS-CoV-2 pandemic raises many scientific and clinical questions. These include how host genetic factors affect disease susceptibility and pathogenesis…”
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Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study by Heiblig, Maël, Ferrada, Marcela A., Koster, Matthew T., Barba, Thomas, Gerfaud-Valentin, Mathieu, Mékinian, Arsène, Coelho, Henrique, Fossard, Gaelle, Barraco, Fiorenza, Galicier, Lionel, Bienvenu, Boris, Hirsch, Pierre, Vial, Guillaume, Boutin, Anne Blandine, Galland, Joris, Le Guenno, Guillaume, Bigot, Adrien, Warrington, Kenneth J., Kermani, Tanaz A., Grayson, Peter C., Patel, Bhavisha A., Beck, David B., Jamilloux, Yvan, Fenaux, Pierre, Sujobert, Pierre

“…VEXAS syndrome (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X-linked, autoinflammatory manifestations and somatic) is an autoinflammatory…”
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Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease by Beck, David B, Aksentijevich, Ivona

“…Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In…”
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Novel genetic mutation in myositis-variant of VEXAS syndrome by Topilow, James S, Ospina Cardona, Daniela, Beck, David B, Ferrada, Marcela A, McMahan, Zsuzsanna H, Paik, Julie J

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The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylation by Serrano, Lourdes, Martínez-Redondo, Paloma, Marazuela-Duque, Anna, Vazquez, Berta N, Dooley, Scott J, Voigt, Philipp, Beck, David B, Kane-Goldsmith, Noriko, Tong, Qiang, Rabanal, Rosa M, Fondevila, Dolors, Muñoz, Purificación, Krüger, Marcus, Tischfield, Jay A, Vaquero, Alejandro

“…The establishment of the epigenetic mark H4K20me1 (monomethylation of H4K20) by PR-Set7 during G2/M directly impacts S-phase progression and genome stability…”
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The role of PR-Set7 in replication licensing depends on Suv4-20h by Beck, David B, Burton, Adam, Oda, Hisanobu, Ziegler-Birling, Céline, Torres-Padilla, Maria-Elena, Reinberg, Danny

“…PR-Set7 is the sole monomethyltransferase responsible for H4K20 monomethylation (H4K20me1) that is the substrate for further methylation by Suv4-20h1/h2…”
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Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC by Oda, Hirotsugu, Beck, David B, Kuehn, Hye Sun, Sampaio Moura, Natalia, Hoffmann, Patrycja, Ibarra, Maria, Stoddard, Jennifer, Tsai, Wanxia Li, Gutierrez-Cruz, Gustavo, Gadina, Massimo, Rosenzweig, Sergio D, Kastner, Daniel L, Notarangelo, Luigi D, Aksentijevich, Ivona

“…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…”
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A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development by Asmar, Anthony J., Abrams, Shaun R., Hsin, Jenny, Collins, Jason C., Yazejian, Rita M., Wu, Youmei, Cho, Jean, Doyle, Andrew D., Cinthala, Samhitha, Simon, Marleen, van Jaarsveld, Richard H., Beck, David B., Kerosuo, Laura, Werner, Achim

“…The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and…”
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Human iPSC-Derived Neuronal Cells From CTBP1 -Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks by Vijayalingam, S, Ezekiel, Uthayashanker R, Xu, Fenglian, Subramanian, T, Geerling, Elizabeth, Hoelscher, Brittany, San, KayKay, Ganapathy, Aravinda, Pemberton, Kyle, Tycksen, Eric, Pinto, Amelia K, Brien, James D, Beck, David B, Chung, Wendy K, Gurnett, Christina A, Chinnadurai, G

“…A recurrent mutation in the transcriptional corepressor is associated with neurodevelopmental disabilities in children (Beck et al., 2016, 2019; Sommerville et…”
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Disorders of ubiquitylation: unchained inflammation by Beck, David B., Werner, Achim, Kastner, Daniel L., Aksentijevich, Ivona

“…Ubiquitylation is an essential post-translational modification that regulates intracellular signalling networks by triggering proteasomal substrate…”
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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome—clinical presentation of a newly described somatic, autoinflammatory syndrome by Alhomida, Faris, Beck, David B., George, Tracy I., Shaffer, Andrew, Lebiedz-Odrobina, Dorota, Kovacsovics, Tibor, Madigan, Lauren M.

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VEXAS syndrome with systemic lupus erythematosus: expanding the spectrum of associated conditions by Sharma, Aman, Naidu, Gsrsnk, Deo, Prateek, Beck, David B.

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Somatic mutations in autoinflammatory and autoimmune disease by Torreggiani, Sofia, Castellan, Flore S., Aksentijevich, Ivona, Beck, David B.

“…Somatic mutations (also known as acquired mutations) are emerging as common, age-related processes that occur in all cells throughout the body. Somatic…”
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Clonal Hematopoiesis, Inflammation, and Hematologic Malignancy by Kanagal-Shamanna, Rashmi, Beck, David B, Calvo, Katherine R

“…Somatic or acquired mutations are postzygotic genetic variations that can occur within any tissue. These mutations accumulate during aging and have classically…”
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The use of leukocytes’ secretome to individually target biological therapy in autoimmune arthritis: a case report by Poubelle, Patrice E., Pagé, Nathalie, Longchamps, Marie-Pier, Sampaio Moura, Natalia, Beck, David B., Aksentijevich, Ivona, Tessier, Philippe A., Pelletier, Martin

“…Background Biological agents have allowed remarkable improvement in controlling autoimmune arthropathies, although none of the numerous biologics readily…”
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