Results 71 to 80 of about 45,012 (247)

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

International Journal of Neonatal Screening, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Natasha Heather, Mark de Hora, Shannon Brothers, Pippa Grainger, Detlef Knoll, Dianne Webster   +5 more
doaj   +1 more source

NUSAP1 Recruits DAXX to Suppress HIF‐Driven Triple‐Negative Breast Cancer Progression

Advanced Science, EarlyView.
A double‐negative feedback loop is identified in TNBC where NUSAP1 bridges HIF and DAXX via its microtubule‐associated domain (MAD) to recruit SETDB1, repressing HIF transcriptional activity by depositing the H3K9me3 repressive mark on HIF target genes, while HIF itself suppresses NUSAP1.
Yating Du, Jingjing Wang, Min Wang, Yao Zhang, Miaomiao Zheng, Huiyan Li, Xuemeng Wang, Huanran Sun, Kexin Tang, Changliang Shan, Qiang Zhao, Xiaoqian Meng, Yijie Wang, Jun Zhou, Yan Chen   +14 more
wiley   +1 more source

Immunological Emergency in Neonate: Case Report and Role of Early Screening

American Journal of Perinatology Reports, 2018
Healthy looking newborns may have severe combined immunodeficiency (SCID), and neonatologists frequently are the first physicians to encounter these patients.
Veronica Mugarab Samedi, Amy Shafey, Essa Al Awad, Luis Murguia Favela   +3 more
doaj   +1 more source

Identifying Key Questions and Challenges in Microchimerism Biology

Advanced Science, EarlyView.
This study identifies key unanswered questions about microchimerism, the presence of cells from one individual living in another. Experts highlight how these cells may affect health, pregnancy, and disease. This study outlines research priorities and challenges in detecting and studying these rare microchimeric cells, aiming to guide future discoveries
Kristine J. Chua, Rachel C. Quilang, Katja Sallinger, Christina Athena Aktipis, Petra Arck, Diana W. Bianchi, Hyun‐Dong Chang, Henderson J. Cleaves II, Michael Eikmans, Heidi E. S. Fjeldstad, David Haig, Whitney E. Harrington, William Horsnell, Daniel P. Jacobsen, Mads Kamper‐Jørgensen, Sami B. Kanaan, Kiarash Khosrotehrani, Nathalie C. Lambert, Jane Lee Nelson, Maria B. Olsen, Tiffany D. Pan, Jelmer R. Prins, Frank A. Schildberg, Anne Cathrine Staff, Anders Ståhlberg, Ina A. Stelzer, Christopher Urbschat, Sing Sing Way, Melissa A. Wilson, Jody Ye, Thomas Kroneis, Amy M. Boddy   +31 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Screening for severe combined immunodeficiency in neonates

Clinical Epidemiology, 2013
Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a ...
Kelly BT, Tam JS, Verbsky JW, Routes JM
doaj  

Treponema denticola in Disseminating Endodontic Infections [PDF]

, 2006
Treponema denticola is a consensus periodontal pathogen that has recently been associated with endodontic pathology. In this study, the effect of mono-infection of the dental pulp with T.
Foschi, F., Izard, Jacques, Müller, R., Prati, C., Sambri, V., Sasaki, H., Stashenko, P.   +6 more
core   +2 more sources

Current Progress in Therapeutic Gene Editing for Monogenic Diseases [PDF]

, 2016
Programmable nucleases allow defined alterations in the genome with ease-of-use, efficiency, and specificity. Their availability has led to accurate and widespread genome engineering, with multiple applications in basic research, biotechnology, and ...
Moore, Marc, Prakash, Versha, Yáñez-Muñoz, Rafael J   +2 more
core   +1 more source

Advances in radiopharmaceuticals for cancer radiotheranostics: CCK2R targeting as a paradigm for translational innovation

Cancer Communications, EarlyView.
Abstract Radiopharmaceuticals are reshaping the landscape of cancer therapy, offering a unique theranostic advantage that is becoming increasingly central to precision medicine. By labeling the same molecular scaffold with different radionuclides, these agents enable seamless integration of diagnostic imaging and targeted therapy.
Jing Li, Xuejun Wen, Rebeka Rita Reszegi, Hemavarshini Kamalrhaj, Wolfgang J. Parak, Xiaoyuan Chen, Jingjing Zhang   +6 more
wiley   +1 more source

NK cell function in severe combined immunodeficiency (SCID): evidence of a common T and NK cell defect in some but not all SCID patients.

Journal of Immunology, 1983
The immunologic work-up of eight infants with the clinical diagnosis of severe combined immunodeficiency (SCID) was performed with special emphasis on natural killer (NK) cell function and ontogeny.
H. Peter, W. Friedrich, R. Dopfer, W Müller, C. Kortmann, W. Pichler, F. Heinz, C. Rieger   +7 more
semanticscholar   +1 more source