Results 171 to 180 of about 57,250 (276)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Nuclear factor of activated T cells as a driver of tumor progression and a target for precision therapy

Animal Models and Experimental Medicine, EarlyView.
Overview illustration of dysregulated NFAT activation coordinating upstream signaling, post‐translational regulation and cancer promoting pathways to induce abnormal gene expression that drives tumor development, progression and immune escape. Abstract The Nuclear Factor of Activated T Cells (NFAT) family comprises closely related transcription factors.
Hira Khan, Khushbakhat Alia, Yusra Al Dhaheri, Muhammad Naseem, Rabah Iratni, Edgar Serfling, Khalid Muhammad   +6 more
wiley   +1 more source

Prognostic significance of tumor microenvironment assessed by machine learning algorithm in surgically resected non‐small cell lung cancer

Cancer Reports, EarlyView., 2023
Abstract Background A methodology to assess the immune microenvironment (IME) of non‐small cell lung cancer (NSCLC) has not been established, and the prognostic impact of IME factors is not yet clear. Aims This study aimed to assess the IME factors and evaluate their prognostic values. Methods and Results We assessed CD8+ tumor‐infiltrating lymphocyte (
Yukihiro Terada, Mitsuhiro Isaka, Akira Ono, Takuya Kawata, Masakuni Serizawa, Keita Mori, Koji Muramatsu, Kiyoshi Tone, Hirotsugu Kenmotsu, Keiichi Ohshima, Kenichi Urakami, Takeshi Nagashima, Masatoshi Kusuhara, Yasuto Akiyama, Takashi Sugino, Toshiaki Takahashi, Yasuhisa Ohde   +16 more
wiley   +1 more source

Microglial VRK2 Regulates Astrocytic GABA Synthesis and Tonic Inhibition in the Thalamus. [PDF]

Glia
Lee D, Ha GE, Lee Y, Lee D, Lee J, Yoon JH, Chang L, Jo KW, Kwon HK, Kim KT, Cheong E.   +10 more
europepmc   +1 more source

An Astrocytic Influence on Impaired Tonic Inhibition in Hippocampal CA1 Pyramidal Neurons in a Mouse Model of Rett Syndrome. [PDF]

J Neurosci, 2020
Dong Q, Kim J, Nguyen L, Bu Q, Chang Q.
europepmc   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source

Divergent Mechanisms of Antidepressant Efficacy: A Unified Computational Comparison of Synaptogenesis, Stabilization, and Tonic Inhibition in a Model of Depression. [PDF]

Cureus
Cheung N.
europepmc   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Recurrent neonatal seizures increase tonic inhibition and respond to enhancers of δ-containing GABAA receptors. [PDF]

JCI Insight
Liddiard GT, Buchanan GF, Schultz ML, Glykys J.   +3 more
europepmc   +1 more source

Chemotherapy as a TONIC to invigorate PD-1 inhibition in TNBC [PDF]

Nature Reviews Clinical Oncology, 2019
openaire   +2 more sources