Results 221 to 230 of about 1,005,051 (309)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Role of the S1P/S1PR axis in inflammation and structural damage in psoriatic arthritis: a cross-sectional study with clinical, biochemical and imaging correlation. [PDF]

RMD Open
Ruiz-Montesinos D, Mendoza-Mendoza D, Bocio Núñez J, Dominguez-Quesada C, Serrano-Guijo ML, Vázquez-Gámez MÁ, Rico MÁ, Colmenero MÁ, Perez-Venegas JJ, Montoya-García MJ, Giner M.   +10 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Toward Precision Health in Autoimmunity and Immune-Related Adverse Events: The Autoantibody Reactome, Spatial Omics, and Multimodal Data Integration. [PDF]

Biomedicines
Stensballe A.
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Rheumatoid arthritis and airway hyperresponsiveness: A GWAS-based mendelian randomization study. [PDF]

Medicine (Baltimore)
Shu H, Wang Y, Shen R, Qian C, Anniwaer A, Ling X, Zhu X, Shen H, Zhang Q.   +8 more
europepmc   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

Endoplasmic Reticulum Stress as a Stage-Dependent Regulatory Hub in Rheumatoid Arthritis. [PDF]

J Inflamm Res
Hu N, Song Y, Yu T, Li H, Wang X, Lv Q.
europepmc   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

Animal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun, Tong Ma, Ran Chen, Lan Shen, Xun Tang, Zhiqiang Shen, Hongbin Zhao   +6 more
wiley   +1 more source

Comparing immune-checkpoint inhibitor-mediated inflammatory arthritis to polymyalgia rheumatica: a prospective cohort study. [PDF]

J Immunother Cancer
Tison A, Jannat-Khah D, Cappelli LC, Suarez-Almazor ME, Abdel-Wahab N, Reid P, Sparks JA, Braaten TJ, Meara A, Calabrese C, Katsumoto T, Ghosh N, Ge K, Saraux A, Devauchelle-Pensec V, Shah AA, Bingham CO, Bass AR.   +17 more
europepmc   +1 more source