Results 161 to 170 of about 746,762 (326)

Complementary multi‐omics profiling of chronic thromboembolic pulmonary hypertension reveals immune cell alterations, epigenetic changes, and genetically supported candidate genes

Animal Models and Experimental Medicine, EarlyView.
This study presents an integrative multi‐omics framework to uncover the molecular mechanisms and potential biomarkers of chronic thromboembolic pulmonary hypertension (CTEPH). Anthropometric and biochemical data were correlated using canonical correlation analysis, revealing key cardiometabolic associations. Single‐cell RNA sequencing identified immune
Xiaopeng Liu, Xia Zheng, Yajun Zhang, Yinghui Fang, Yanan Zhen   +4 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Influence of rs1080985 single nucleotide polymorphism of the CYP2D6 gene on response to treatment with donepezil in patients with Alzheimer’s disease

Neuropsychiatric Disease and Treatment, 2013
Aleksandra Klimkowicz-Mrowiec,1 Pawel Wolkow,2 Malgorzata Sado,3 Anna Dziubek,3 Joanna Pera,1 Tomasz Dziedzic,1 Andrzej Szczudlik,1 Agnieszka Slowik1 1Department of Neurology, Jagiellonian University, School of Medicine, Botaniczna, 2Department of ...
Klimkowicz-Mrowiec A, Wolkow P, Sado M, Dziubek A, Pera J, Dziedzic T, Szczudlik A, Slowik A   +7 more
doaj  

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

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

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