Results 141 to 150 of about 459,264 (290)

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Hyperreflective Foci in the Inner Nuclear Layer: Proof‐of‐Concept for an Optical Coherence Tomography Derived Microglia‐Related Marker in Multiple Sclerosis

Annals of Neurology, EarlyView.
The role of microglia has emerged as a critical driver of disease progression in multiple sclerosis (MS), but we lack broadly applicable monitoring tools. Here, we investigated whether hyperreflective foci (HRF), as detected by optical coherence tomography (OCT) within the inner nuclear layer (INL) of the retina, can be used as a marker for microglial ...
Jonathan A. Gernert, Laura M. Bartos, Tara Christmann, Hanna Zausinger, Luca N. Diedrich, Daniel Engels, Miriam Schlüter, Sarah Schlaeger, Sophia Stoecklein, Leonie F. Keidel, Tania Kümpfel, Martin Kerschensteiner, Matthias Brendel, Joachim Havla   +13 more
wiley   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Similarity Measures for Clustering SNP and Epidemiological Data [PDF]

The issue of suitable similarity measures for a joint consideration of so called SNP data and epidemiological variables arises from the GENICA (Interdisciplinary Study Group on Gene Environment Interaction and Breast Cancer in Germany) casecontrol study ...
Selinski, Silvia
core  

Cytokine Pathways Driving Diverse Tissue Pathologies in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Rheumatoid arthritis (RA) is a complex systemic disorder characterized primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease, such as that of the lung, with potentially devastating clinical consequences. The critical importance of comorbidities,
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Plasma Proteomics Identifies Thousand‐and‐One–Amino Acid Kinase 3 as a Potential Biomarker of Rheumatoid Arthritis Activity and a Novel Therapeutic Target

Arthritis &Rheumatology, EarlyView.
Objective Bone destruction associated with active rheumatoid arthritis (RA) remains a major therapeutic challenge, with a lack of reliable molecular markers reflecting bone injury. This study aims to identify novel biomarkers linked to bone destruction in active RA through proteomic analysis, providing new strategies for precise monitoring and targeted
Pengfei Xin, Wenzhen Li, Xinyu A, Jun Shen, Xiaohui Meng, Yanqin Bian, Haihui Han, Zheng Xiang, Lei Ran, Songtao Sun, Jun Xie, Tao Yue, Qi Zhu, Xiaoming Zhang, Lu Xie, Lianbo Xiao   +15 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source