Results 51 to 60 of about 102,493 (259)

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Trine Tangeraas, Jens V. Jørgensen, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen   +34 more
doaj   +1 more source

Autoantigen mRNA‐LNP Vaccination Drives Therapeutic Efficacy in Preclinical Models for Autoimmunity

Advanced Science, EarlyView.
Systemic and intramuscular delivery of autoantigen mRNA via lipid nanoparticles reprograms antigen‐presenting cells toward a mature, homeostatic state, driving antigen‐specific T cell exhaustion and providing therapeutic efficacy across autoimmune disease models.
Paulien Baeten, Karen Beets, Tessa Schalley, Janne Verreycken, Gayel Duran, Daphne Lintsen, Lisa Schuetz, Xue Zhong, Rinke Nieuwschepen, Melissa Schepers, Brecht Moonen, Jeroen Bogie, Jana Van Broeckhoven, Carlo Heirman, Jurgen Van den Heuvel, Bart Vanderborght, Ismael Varela, Roxanne Nouille, Lotte Jacobs, Jessica Filtjens, Sabah Kasmi, Elise Seynaeve, Veronica Mavrovouna, Jana De Vrieze, Michael A. Brehm, Sandra Maréchal, Sophie Janssens, Florence Lambolez, Niels Hellings, Stefaan De Koker, Bieke Broux   +30 more
wiley   +1 more source

Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review

Health Technology Assessment
Background Severe combined immunodeficiency is an inherited condition arising from mutations in at least 19 known genes. Severe combined immunodeficiency can be identified through screening, family history or clinical presentation.
Marie Westwood, Jonathan Emerson, Nigel Armstrong, Lisa Stirk   +3 more
doaj   +1 more source

Impaired Lymphocytes Development and Xenotransplantation of Gastrointestinal Tumor Cells in Prkdc-Null SCID Zebrafish Model

Neoplasia: An International Journal for Oncology Research, 2016
Severe combined immunodeficiency (SCID) mice have widely been used as hosts for human tumor cell xenograft study. This animal model, however, is labor intensive.
In Hye Jung, Yong-Yoon Chung, Dawoon E. Jung, Young Jin Kim, Do Hee Kim, Kyung-Sik Kim, Seung Woo Park   +6 more
doaj   +1 more source

CD3ε+ Cells in Pigs With Severe Combined Immunodeficiency Due to Defects in ARTEMIS

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is described as the lack of functional T and B cells. In some cases, mutant genes encoding proteins involved in the process of VDJ recombination retain partial activity and are classified as hypomorphs. Hypomorphic
Adeline N. Boettcher, A. Giselle Cino-Ozuna, Yash Solanki, Jayne E. Wiarda, Jayne E. Wiarda, Jayne E. Wiarda, Ellie Putz, Jeana L. Owens, Sara A. Crane, Amanda P. Ahrens, Crystal L. Loving, Joan. E. Cunnick, Raymond R. R. Rowland, Sara E. Charley, Jack C. M. Dekkers, Christopher K. Tuggle   +15 more
doaj   +1 more source

Parental coping with uncertainties along the severe combined immunodeficiency journey

Orphanet Journal of Rare Diseases, 2022
Background Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child’s diagnosis, treatment ...
Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa, Barbara B. Biesecker   +7 more
doaj   +1 more source

Modulation of Lung Adenocarcinoma by Phosphorylated FOXN3‐Mediated Transcriptional Inactivation of p53

Advanced Science, EarlyView.
In non‐tumorous lung tissues, FOXN3 promotes the transcriptional activation of p53 by facilitating its recruitment to target promoters, thereby suppressing lung tumorigenesis through activation of the p53 signaling pathway. Conversely, in lung adenocarcinoma tissues, hyperphosphorylated FOXN3 dissociates from the promoters of p53‐responsive genes and ...
Jinjin Yu, Jingyu Yu, Suhui Wang, Xinghong Hu, Lele Jin, Nan Wu, Yuhan Ni, Xueying Zhang, Chengling Zhao, Jihong Zhou, Yong Zhang, Baofa Sun, Hongxing Zhang, Chunfu Zheng, Song Guo Zheng, Wei Li, Xinxing Zhu   +16 more
wiley   +1 more source

CALB2 is a Mechanoresistance Gene in Metastatic Prostate Cancer

Advanced Science, EarlyView.
Prostate cancer cell lines of differing origins were cultured over many passages while being subjected to semi‐lethal levels of fluid shear stress, representing the harsh mechanical environment these cells are subjected to in the circulation during the process of distant metastasis.
Abigail R. Fabiano, Allen C. Luo, Paul Taufalele, Jenna A. Dombroski, Ehsan Aalaei, Schyler J. Rowland, Melissa S. Cantú, Alexandria T. Carter, Samantha V. Knoblauch, Cynthia A. Reinhart‐King, Michael R. King   +10 more
wiley   +1 more source

Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells in ART−/−IL2RG−/Y SCID Pigs

Frontiers in Immunology, 2020
Pigs with severe combined immunodeficiency (SCID) are an emerging biomedical animal model. Swine are anatomically and physiologically more similar to humans than mice, making them an invaluable tool for preclinical regenerative medicine and cancer ...
Adeline N. Boettcher, Yunsheng Li, Amanda P. Ahrens, Matti Kiupel, Kristen A. Byrne, Crystal L. Loving, A. Giselle Cino-Ozuna, Jayne E. Wiarda, Jayne E. Wiarda, Jayne E. Wiarda, Malavika Adur, Blythe Schultz, Jack J. Swanson, Elizabeth M. Snella, Chak-Sum (Sam) Ho, Sara E. Charley, Zoe E. Kiefer, Joan E. Cunnick, Ellie J. Putz, Giuseppe Dell'Anna, Jackie Jens, Swanand Sathe, Frederick Goldman, Erik R. Westin, Jack C. M. Dekkers, Jason W. Ross, Christopher K. Tuggle   +26 more
doaj   +1 more source

WDR72 Promotes Neuroblastoma Stemness and Progression by Sequestering TRIM31‐Mediated Degradation of CBX8

Advanced Science, EarlyView.
This study unveiled that METTL14 mediates m6A modification of WDR72 mRNA to stabilize and enhance WDR72 expression, which disrupts TRIM31‐mediated ubiquitination of CBX8 protein and retards its degradation, finally the elevated CBX8 contributes to tumor stemness.
Huijuan Zeng, Zijie Ye, Manna Zheng, Jing Pan, Tianbao Tan, Jiliang Yang, Jiahao Li, Zhang Zhao, Tianzhu Long, Liyu Zhang, Gautam Sethi, Tianyou Yang, Chao Hu, Yan Zou   +13 more
wiley   +1 more source