Results 101 to 110 of about 45,012 (247)

Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency [PDF]

, 2011
Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric emergency, which is life-threatening when recognized too late.
A Aruffo, A Balloch, A Fasth, A Jain, A Jeurissen, AA Ven van de, AA Ven van de, AA Ven van de, AE Poodt, B Gathmann, B Grimbacher, C Cunningham-Rundles, C Cunningham-Rundles, C Wehr, CG Mullighan, CM Jacob, D Vetrie, E Castigli, E Edwards, E Vries de, ER Stiehm, Gertjan Driessen, H Borgers, H Chapel, HM Chapel, I Dalal, I Quinti, J Levy, JA Daniels, JA Winkelstein, JA Winkelstein, JL Simon, JP DiSanto, JT Schiffer, K Bilsen van, K Imai, K Warnatz, KC Hsueh, KM Thickett, L Du, LD Notarangelo, M Burg van der, M Delvecchio, M Lucas, M Vodjgani, MC Crisanti, MC Garcia Rodriguez, MC Zelm van, MC Zelm van, Mirjam van der Burg, N Rezaei, OC Bruton, P Quartier, P Revy, PL Yong, R Carsetti, R Kersseboom, R Rachid, RC Allen, S Peron, S Sanchez-Ramon, S Urschel, SH Kerr, T Espanol, T Kanoh, TW Kuijpers, U Salzer, U Salzer, V Moschese, X Bossuyt   +69 more
core   +7 more sources

An expanded population of natural killer cells in mice with severe combined immunodeficiency (SCID) lack rearrangement and expression of T cell receptor genes

Journal of Experimental Medicine, 1986
Mice with severe combined immunodeficiency syndrome (SCID) exhibit an impairment in both T and B cell maturation, whereas myelopoiesis remains unaffected. We report here that spleens from SCID mice have undergone phenotypic expansion of cells bearing the
R. Lauzon, K. Siminovitch, G. Fulop, R. A. Phillips, J. Roder   +4 more
semanticscholar   +1 more source

Human iPSC‐Derived Mononuclear Phagocytes Improve Cognition and Neural Health across Multiple Mouse Models of Aging and Alzheimer's Disease

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Short‐term intravenous treatments with iPSC‐derived mononuclear phagocytes (iMPs) improve cognitive decline and neural health in two mouse models of aging and in the 5xFAD mouse model of Alzheimer's disease. iMPs reduce levels of serum amyloid proteins that increase in aging and improve the health of hippocampal microglia and mossy cells.
V. Alexandra Moser, Luz Jovita Dimas‐Harms, Rachel M. Lipman, Jake Inzalaco, Shaughn Bell, Michelle Alcantara, Erikha Valenzuela, George Lawless, Simion Kreimer, Sarah J. Parker, Helen S. Goodridge, Clive N. Svendsen   +11 more
wiley   +1 more source

IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Allergy, Asthma & Clinical Immunology, 2019
Background Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene.
Che Kang Lim, Hassan Abolhassani, Sofia K. Appelberg, Mikael Sundin, Lennart Hammarström   +4 more
doaj   +1 more source

In Vitro Monitoring of Babesia microti Infection Dynamics in Whole Blood Microenvironments

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Here, an open microfluidic platform termed “µ‐Blood” is reported for real‐time, continuous monitoring of Babesia microti infection dynamics in vitro. µ‐Blood allows direct interrogation of whole blood with preserved integrity of the original whole blood microenvironment through an extended period (e.g., 72 h with mouse red blood cells) ex vivo. µ‐Blood
Chao Li, Emily G. Bache, Amy L. Apgar, Danielle M. Tufts, Tagbo H. R. Niepa   +4 more
wiley   +1 more source

The helicase HAGE prevents interferon-a-induced PML expression in ABCB5+ malignant melanoma-initiating cells by promoting the expression of SOCS1 [PDF]

, 2014
The tumour suppressor PML (promyelocytic leukaemia protein) regulates several cellular pathways involving cell growth, apoptosis, differentiation and senescence.
A Carracedo, A Hauschild, A Jankowsky, A Kakizuka, AA Tarhini, AJ Linley, BJ Wilson, C Gurrieri, C Lavau, C Schindler, D Ungureanu, DJ Groskreutz, G Marie-Claude, GB Lesinski, H de The, J Borrow, K Ito, K Wheatley, M Stadler, MK Chelbi-Alix, NY Frank, O Cordin, P Salomoni, RAR Piganis, S Aaronson, T Kamura, T Regad, T Regad, T Regad, T Schatton, TA Endo, W Condemine, WB Dias, Z Li   +33 more
core   +1 more source

Paediatric rare diseases: Can large language models assist off‐label prescribing?

British Journal of Clinical Pharmacology, Volume 91, Issue 11, Page 3201-3212, November 2025.
Aims To evaluate the effectiveness and reliability of large language models (LLMs) in retrieving and synthesizing biomedical information to support off‐label drug prescribing in paediatric rare diseases, and to compare their performance with human‐authored references in terms of scientific rationale, adverse events and drug interactions.
Anna Flamigni, Giulia Zamagni, Gilda Paternuosto, Anna Arbo   +3 more
wiley   +1 more source

A preclinical model for the ATLL lymphoma subtype with insights into the role of microenvironment in HTLV-1-mediated lymphomagenesis [PDF]

, 2018
\uef7f View references (83) Adult T cell Leukemia/Lymphoma (ATLL) is a mature T cell malignancy associated with Human T cell Leukemia Virus type 1 (HTLV-1) infection.
Adriana Mattiolo, Alberto Amadori, Alberto Amadori, Barbara Montini, Ilaria Cavallari, Luigi Chieco-Bianchi, Maria Assunta Piano, Maria Luisa Calabrò, Mattia Vicario   +8 more
core   +2 more sources

Genome‐Wide Screening in Haploid Stem Cells Reveals Synthetic Lethality Targeting MLH1 and TP53 Deficient Tumours

Cell Proliferation, Volume 58, Issue 11, November 2025.
To identify genetic events that can lead to tumour death once either MLH1 or TP53 is mutated, a genome‐wide genetic screening was performed, uncovering a list of putative hits. Synthetic lethal interactions were validated either genetically or chemically by using small molecules that inhibit these genes either in vitro and in vivo.
Rivki Cashman, Guy Haim‐Abadi, Elyad Lezmi, Hagit Philip, Jonathan Nissenbaum, Ruth Viner‐Breuer, Chen Kozulin, Tamar Golan‐Lev, Aseel Gadban, Shiri Spinner‐Potesky, Ofra Yanuka, Oded Kopper, Nissim Benvenisty   +12 more
wiley   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, Volume 58, Issue 11, November 2025.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source