Results 141 to 150 of about 217,775 (241)

Fibrous hamartoma of infancy with a rare pseudoangiomatous pattern: A case report. [PDF]

SAGE Open Med Case Rep
Bertrand C, Kokta V, Piche N, Coulombe J.   +3 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Correction: Perceptions and Intentions of Nursing Students Regarding Digital Health: Cross-Sectional Study. [PDF]

JMIR Nurs
Castonguay A, Hegg-Deloye S, Paré G, Etindele Sosso FA.   +3 more
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

Coconstructing CHAMP, an Artificial Intelligence Chatbot for Pediatric Infectious Symptoms Management: Protocol for a Multiphase Participatory Study. [PDF]

JMIR Res Protoc
Lin J, Jaiswal N, Ma Y, Lebouché B, Villanueva S, Achiche S, Lessard D, Engler K, Berthelot S, Buckeridge D, Celi LA, Gagnon I, Gravel J, Plotnick LH, Poenaru D, Pomey MP, Vang ZM, CHAMP Co-Construction Committee, Osmanlliu E.   +18 more
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

From production to bedside: A tiered QC framework for regulatory alignment and analytical comparability in decentralized CGT. [PDF]

Regen Ther
Nahum S, Doshi D, Kosnik C, Jeffries E, Nishida K, Caplan V, Leyen HV.   +6 more
europepmc   +1 more source

SnRNA‐seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations

Animal Models and Experimental Medicine, EarlyView.
To dissect the cellular heterogeneity and invasive mechanisms of limb venous malformations (VMs), this study first obtained tissue samples from four patients with VMs and four normal controls (NC). Single‐nucleus suspension was prepared, followed by transcriptome library construction and sequencing. After pretreatment, quality control, standardization,
Junjie Lin, Tingting Liu, Bin Fang, Xiaojuan Feng, Wenting Jiao, Changkuan Chen, Yaqing Ding, Gaozan Zhu, Wenqiu Wang, Wenbo Liu, Yuanqi Li, Shoufu Hou, Jianshe Wei, Junbo Qiao   +13 more
wiley   +1 more source

Comprehensive Evaluation of Fructus Tsaoko, Seeds of Tsaoko Fructus and Ginger Made Seeds of Tsaoko Fructus Based on Drug-Like Compounds and Aroma Analysis. [PDF]

Food Sci Nutr
Chen H, Yang M, Yang W, Qi M, Xu Z, Yang T, Zhang J.   +6 more
europepmc   +1 more source

Reinforcing Particle Architectural Stability of Li‐Rich Cathode With Enhanced Anionic Redox Reaction Reversibility

Angewandte Chemie, EarlyView.
In this work, we establish a direct correlation between internal compactness and particle architectural stability, identifying it as a key descriptor of cathode structural integrity. Simultaneously, the capacity contribution and compensation mechanism of ARR are resolved, revealing that the extent of irreversible capacity loss is governed by both the ...
Yizhen Huang, Bixian Ying, Chunpu Li, Maolin Yang, Kang Zhang, Guifan Zeng, Jiyuan Xue, Yuan Tian, Wei Li, Chunjing Hu, Tao Zeng, Peng Zhang, Chao Li, Yinguo Xiao, Huaqiang Chen, Tian Qiu, Stefan Schuppler, Peter Nagel, Jin Yi, Changming Qu, Jia‐Wei Wang, Fanghua Ning, Qingsong Wang, Yu Qiao, Shi‐Gang Sun   +24 more
wiley   +2 more sources