Results 101 to 110 of about 30,325 (199)

In Silico Drug Repositioning Identifies SYK Kinase Inhibitors as Potential Neuroprotective Agents for Ataxia–Telangiectasia

Chemical Biology &Drug Design, Volume 108, Issue 1, July 2026.
Repositioning of vemurafenib and palbociclib as spleen tyrosine kinase inhibitors for the treatment of neuroinflammation in Ataxia–Telangiectasia. ABSTRACT Ataxia–Telangiectasia (AT) is a rare neurodegenerative disorder characterized by progressive neuronal loss and chronic neuroinflammation.
Alessia Romano, Rocco Buccheri, Chiara Zagni, Antonio Rescifina   +3 more
wiley   +1 more source

Ataxia-telangiectasia syndrome

Pediatrics & Neonatology, 2022
Joana Fortuna, Ana Luisa Rodrigues, Paula Pires   +2 more
openaire   +2 more sources

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino, Roberto Paparella, Giorgia Urciuolo, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +6 more
wiley   +1 more source

TFAP2A‐Induced Upregulation of LncRNA NUTM2A‐AS1 Promotes LUAD Progression Through a miR‐409‐5p/SLC35F2 Regulatory Axis

Journal of Cellular and Molecular Medicine, Volume 30, Issue 13, July 2026.
ABSTRACT Long non‐coding RNAs (LncRNAs) play pivotal roles in lung adenocarcinoma (LUAD) progression. However, the upstream transcriptional regulation and downstream mechanisms of LncRNA NUTM2A‐AS1 in LUAD remain largely unexplored. The expression levels of NUTM2A‐AS1, TFAP2A, miR‐409‐5p and SLC35F2 in LUAD tissues and cell lines were analysed using ...
Weiqin Wang, Yongfeng Liu, Tiantian Chen, Jing Zhang, Feng Hu   +4 more
wiley   +1 more source

Eye in ataxia telangiectasia

BMJ Case Reports, 2023
Uddalak Chakraborty, Atanu Chandra, Sugata Dasgupta   +2 more
openaire   +2 more sources

From Synapses to Circuits, the Role of KIBRA and the WWC Family in Adaptive Brain Function

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
KIBRA (WWC1) has been the subject of scientific interest since its initial association with nonpathological variation in human memory performance. This review discusses subsequent work in animal models demonstrating that KIBRA supports memory function.
Lenora J. Volk
wiley   +1 more source

Ataxia-telangiectasia: future prospects

The Application of Clinical Genetics, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Chaudhary MW, Al-Baradie RS
doaj  

Optimizing TREC‐ and KREC‐based newborn screening: Risk‐stratified algorithms significantly reduce referrals

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Abstract Background Newborn screening (NBS) quantifying T‐cell receptor excision circles with or without kappa‐deleting recombination excision circles (TREC, KREC) enables early detection of severe T‐ and/or B‐cell lymphopenia. However, both markers have limited specificity, often resulting in unnecessary referrals.
Maarja Soomann, Seraina Prader, Susanna Sluka, Jana Pachlopnik Schmid, Johannes Trück   +4 more
wiley   +1 more source

Flavouring Group Evaluation 216 Revision 3 (FGE.216Rev3): Consideration of the genotoxic potential of α,β‐unsaturated 2‐phenyl‐2‐alkenals from subgroup 3.3 of FGE.19

EFSA Journal, Volume 24, Issue 7, July 2026.
Abstract The EFSA Panel on Food Additives and Flavourings (FAF) evaluated the genotoxic potential of two flavouring substances, 2‐phenylcrotonaldehyde [FL‐no: 05.062] and 5‐methyl‐2‐phenylhex‐2‐enal [FL‐no: 05.099] from subgroup 3.3 of FGE.19, in the Flavouring Group Evaluation 216 revision 3 (FGE.216Rev3).
EFSA Panel on Food Additives and Flavourings (FAF), Laurence Castle, Monica Andreassen, Gabriele Aquilina, Maria Bastos, Polly Boon, Biagio Fallico, Rex FitzGerald, María José Frutos Fernández, Bettina Grasl‐Kraupp, Ursula Gundert‐Remy, Rainer Gürtler, Eric Houdeau, Marcin Kurek, Henriqueta Louro, Patricia Morales, Sabina Passamonti, Claudia Bolognesi, Eugenia Cordelli, Gisela Degen, Karl‐Heinz Engel, Maria Carfí, Alessandra Tosato, Carla Martino   +23 more
wiley   +1 more source

Familial Ataxia-telangiectasia [PDF]

Archives of Disease in Childhood, 1961
J D, Pickup, R J, Pugh
openaire   +2 more sources