Zobrazeno 1 - 10
of 293
pro vyhledávání: '"Joseph A. Church"'
Autor:
Martin D. Burkhalter, Tom Stiff, Lars D. Maerz, Teresa Casar Tena, Heike Wiese, Julian Gerhards, Steffen A. Sailer, Linh Anna Trúc Vu, Max Duong Phu, Cornelia Donow, Marius Alupei, Sebastian Iben, Marco Groth, Sebastian Wiese, Joseph A. Church, Penelope A. Jeggo, Melanie Philipp
Publikováno v:
Cell Death and Disease, Vol 15, Iss 9, Pp 1-14 (2024)
Abstract The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often, faulty centrosomes cause microcephaly, yet aberrant cilia may also be involved. Here,
Externí odkaz:
https://doaj.org/article/c7c8e616bb0a44d686f248d5e16d846c
Autor:
Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Laia Alsina, Faranaz Atschekzei, Delfien J. Bogaert, Siobhan O. Burns, Joseph A. Church, Gregor Dückers, Alexandra F. Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetlana O. Sharapova, Kathrin Siepermann, Carsten Speckmann, Sophie Steiner, Nisha Verma, Jolan E. Walter, Emma Westermann-Clark, Sigune Goldacker, Klaus Warnatz, Markku Varjosalo, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the most frequen
Externí odkaz:
https://doaj.org/article/d9245bd92ea94ce499ebc30f5a9fab14
Autor:
Manoj K. Sarma, Amrita Pal, Margaret A. Keller, Tamara Welikson, Joseph Ventura, David E. Michalik, Karin Nielsen-Saines, Jaime Deville, Andrea Kovacs, Eva Operskalski, Joseph A. Church, Paul M. Macey, Bharat Biswal, M. Albert Thomas
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract In perinatally HIV-infected (PHIV) children, neurodevelopment occurs in the presence of HIV-infection, and even with combination antiretroviral therapy (cART) the brain can be a reservoir for latent HIV. Consequently, patients often demonstr
Externí odkaz:
https://doaj.org/article/c9addae8db674b8f91bcc9acd8f64955
Autor:
Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immun
Externí odkaz:
https://doaj.org/article/afa5f18f07b548228b00ab048e187a66
Autor:
Manoj K. Sarma, Rajakumar Nagarajan, Margaret A. Keller, Rajesh Kumar, Karin Nielsen-Saines, David E. Michalik, Jaime Deville, Joseph A. Church, M. Albert Thomas
Publikováno v:
NeuroImage: Clinical, Vol 4, Iss C, Pp 29-34 (2014)
Despite the success of antiretroviral therapy (ART), perinatally infected HIV remains a major health problem worldwide. Although advance neuroimaging studies have investigated structural brain changes in HIV-infected adults, regional gray matter (GM)
Externí odkaz:
https://doaj.org/article/e72c5b0843f04e7c9e1fb2f6348656e7
Publikováno v:
International Journal of Rheumatology, Vol 2011 (2011)
X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. We describe a 12-year-old boy with XLA and enthesiti
Externí odkaz:
https://doaj.org/article/c6df430993894b78b6533d40bb4023a0
Autor:
Jeremy P. Farida, MD, Joseph T. Church, MD, Arpan Patel, MD, Bree Ann Young, MD, Cliff Cho, MD, Ryan Law, DO
Publikováno v:
VideoGIE, Vol 5, Iss 3, Pp 102-103 (2020)
Externí odkaz:
https://doaj.org/article/29863dddb9c644578f07dd82154e9c88
Autor:
Gergely Kriván, Michael Borte, Pere Soler-Palacin, Joseph A. Church, Ildiko Csurke, James B. Harris, Jay A. Lieberman, Isaac R. Melamed, James N. Moy, Reka Simon, Silke Aigner, Stephan Lentze, Christiane Staiger
Publikováno v:
Scientia
Purpose To assess the efficacy, pharmacokinetics, and safety of a new, highly purified 10% IVIg (BT595, Yimmugo®) administered in children with PID. Methods This was an open-label, prospective, uncontrolled, multicenter Phase III pivotal trial. Amon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eabbe43399acc95384d1b7db12131b9
https://hdl.handle.net/11351/9413
https://hdl.handle.net/11351/9413
Autor:
Tina Nguyen, Anthony Lau, Julia Bier, Kristen C. Cooke, Helen Lenthall, Stephanie Ruiz-Diaz, Danielle T. Avery, Henry Brigden, David Zahra, William A Sewell, Luke Droney, Satoshi Okada, Takaki Asano, Hassan Abolhassani, Zahra Chavoshzadeh, Roshini S. Abraham, Nipunie Rajapakse, Eric W. Klee, Joseph A. Church, Andrew Williams, Melanie Wong, Christoph Burkhart, Gulbu Uzel, David R. Croucher, David E. James, Cindy S. Ma, Robert Brink, Stuart G. Tangye, Elissa K. Deenick
Publikováno v:
Journal of Experimental Medicine. 220
Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gain-of-funct
Autor:
Katrin Lichtsinn, Joseph T. Church, Paul K. Waltz, Abeer Azzuqa, Jacqueline Graham, Jennifer Troutman, Runjia Li, Burhan Mahmood
Publikováno v:
Journal of Pediatric Surgery Open. :100027