Results 311 to 320 of about 5,770,503 (368)

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency. [PDF]

J Exp Med
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY.   +40 more
europepmc   +1 more source

Advances in Double‐Stranded DNA Targeting Technologies

Exploration, EarlyView.
Double‐stranded DNA (dsDNA) plays a crucial role in genetic information storage and disease management, but its inherent stability limits access to internal bases. To overcome this challenge, various high‐specificity molecular targeting technologies have been developed to destabilize the DNA structure.
Zuhao Shen, Yiqun Liu, Yingjie Hao, Yifan Bo, Xiaochuan Dai, Shihui Wang, Tian Xia, Xin Su, Huiyu Liu   +8 more
wiley   +1 more source

Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. [PDF]

Int J Neonatal Screen
Mak CM, Ho TYC, Yip MK, Song FE, Tam RCM, Yu LWY, Ke AA, Law ECY, Chan TCH, Yeung MCW.   +9 more
europepmc   +1 more source

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience. [PDF]

World J Pediatr
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL.   +8 more
europepmc   +1 more source

Case report: A novel <i>JAK3</i> homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19. [PDF]

Front Immunol
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL.   +12 more
europepmc   +1 more source

Sporadic TP63 Gene Mutation with Combined Immunodeficiency and a Previously Unreported Genetic Mutation (HG3B): Case Report

Amanzhan S. Aldanyazov, L.Yu. Popova, E.A. Zlodeeva, G.D. Alemanova, Akmer A. Albakasova, Alfiya M. Masagutova, David Dyondyoshi, Alina K. Makenova, Darya S. Obyedkova, Ilya N. Nikiforov   +9 more
openalex   +2 more sources

HAMPAO-SPECT of the brain and ocular microangiopathic syndrome in patients infected with the human immunodeficiency virus type 1 [PDF]

, 1993
Bogner, Johannes R., Einhäupl, Karl Max, Geier, Stephan A., Goebel, Frank-Detlef, Hammel, Gertrud, Sadri, Ifna, Schielke, Eva, Tatsch, Klaus   +7 more
core  

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency. [PDF]

Front Immunol
Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD.   +7 more
europepmc   +1 more source

Cancer risks and trends between 1997 and 2018, and effects of restored immunity in people living with HIV: Results from the ANRS CO4 French hospital database on HIV

International Journal of Cancer, EarlyView.
What's New? This large nation‐wide cohort study provides a comprehensive 20‐year analysis of cancer trends among people living with HIV in France, highlighting persistent excess risks for virus‐related cancers despite effective antiretroviral therapy and immune restoration.
Sophie Grabar, Paula Lakrout, Valérie Potard, Aurélien Belot, Jacques Cadranel, Christine Jacomet, Christine Katlama, Esaïe Marshall, Olivier Lambotte, Romain Palich, Sylvie Ronot‐Bregigeon, Jean‐Philippe Spano, Anne‐Marie Bouvier, Alain Makinson, Dominique Costagliola   +14 more
wiley   +1 more source

Severe combined immunodeficiency.

Indian pediatrics, 1989
U, Datta, R K, Marwaha, A, Jain, R, Khazuria, C S, Deshpande, S, Sehgal   +5 more
openaire   +1 more source