Results 51 to 60 of about 124,392 (280)

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

Disease Models & Mechanisms, 2016
Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis.
Jakub Sikora, Jennifer Leddy, Maria Gulinello, Steven U. Walkley   +3 more
doaj   +1 more source

Eltrombopag for the treatment of chronic idiopathic (immune) thrombocytopenic purpura : A Single Technology Appraisal [PDF]

, 2008
Evidence Review Group (ERG) final report for the National Institute for Health and Clinical ExcellencePublisher ...
Boyers, Dwayne, Crowther, M, Fraser, Cynthia Mary, Jenkinson, David James, Jia, Xueli, Mowatt, Graham   +5 more
core  

Eosinophilic granulomatosis with polyangiitis (EGPA) and PRES: a case-based review of literature in ANCA-associated vasculitides [PDF]

, 2015
Eosinophilic granulomatosis with polyangiitis (EGPA) is a small-sized vessel systemic necrotizing vasculitis and belongs to the family of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides.
Barilaro, Giuseppe, Granata, Massimo, Marra, ALESSANDRO MARIA, Villella, Valeria   +3 more
core   +1 more source

Prediction of Relapse and Glucocorticoid Dependence in Eosinophilic Granulomatosis With Polyangiitis: Findings From a Large European Cohort

Arthritis &Rheumatology, EarlyView.
Objective Eosinophilic granulomatosis with polyangiitis (EGPA) is a small vessel vasculitis characterized by eosinophilia, asthma, and ear, nose, and throat (ENT) involvement. Although glucocorticoids (GCs) are effective in controlling symptoms, relapses and GC dependence are common. The aim of this study was to develop predictive models for vasculitis
Matthias Papo, Pauline Martinot, Renato A. Sinico, Vítor Silvestre‐Teixeira, Nils Venhoff, Maria‐Letizia Urban, Michele Iudici, Juliane Mahrhold, Francesco Locatelli, Giulia Cassone, Franco Schiavon, Benjamin Seeliger, Thomas Neumann, Claudia Feder, Matthieu Groh, Chiara Marvisi, Maxime Samson, Thomas Barba, David Jayne, Arianna Troilo, Jens Thiel, Bernhard Hellmich, Sara Monti, Carlomaurizio Montecucco, Carlo Salvarani, Jean‐Emmanuel Kahn, Bernard Bonnotte, Cécile‐Audrey Durel, Xavier Puéchal, Luc Mouthon, Loïc Guillevin, Giacomo Emmi, Augusto Vaglio, Raphaël Porcher, Benjamin Terrier, on behalf of the French Vasculitis Study Group and the Eosinophilic Granulomatosis with Polyangiitis European Study Group   +35 more
wiley   +1 more source

A novel method for estrous cycle staging using supervised object detection

NPP-Digital Psychiatry and Neuroscience
The estrous cycle regulates reproductive events and hormone changes in female mammals and is analogous to the menstrual cycle in humans. Monitoring this cycle is necessary as it serves as a biomarker for overall health and is crucial for interpreting ...
Benjamin Babaev, Saachi Goyal, Tushar Arora, Anita Autry, Rachel A. Ross   +4 more
doaj   +1 more source

The components of an electrical synapse as revealed by expansion microscopy of a single synaptic contact

eLife
Most nervous systems combine both transmitter-mediated and direct cell–cell communication, known as ‘chemical’ and ‘electrical’ synapses, respectively. Chemical synapses can be identified by their multiple structural components.
Sandra P Cárdenas-García, Sundas Ijaz, Alberto E Pereda   +2 more
doaj   +1 more source

Proteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric Disorders

Neural Plasticity, 2016
Decades of research have demonstrated that rapid alterations in protein abundance are required for synaptic plasticity, a cellular correlate for learning and memory.
Matthew E. Klein, Hannah Monday, Bryen A. Jordan   +2 more
doaj   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Skin manifestations of COVID-19

RUDN Journal of Medicine, 2021
The infection caused by the recently identified SARS-CoV-2, dubbed coronavirus disease-19 (COVID-19), has become a pandemic. With exponential growth of morbidity among the people around the world, the clinical characteristics of COVID-19 are becoming ...
E. V. Dvoryankova, I. M. Korsunskaya, T. A. Slavyanskaya   +2 more
doaj   +1 more source