Results 91 to 100 of about 314,978 (365)

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology
Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper   +29 more
doaj   +1 more source

Molecular characterisation of integrated sequences of Banana streak virus in the banana plant genome [PDF]

, 2009
The genome of banana (Musa sp.) harbours multiple integrations of several species of Banana streak virus (BSV), certainly resulting from illegitimate recombination between host and viral DNA. Surprisingly, this pararetrovirus does not require integration
Baurens, Franc-Christophe, Chabannes, Matthieu, Gayral, Philippe, Guidolin, Olivier, Iskra Caruana, Marie-Line, Laboureau, Nathalie, Sidibé-Bocs, Stéphanie   +6 more
core  

Microglial Feimin Alleviates Cognitive Impairment in High‐Fat Diet‐Fed Mice

Advanced Science, EarlyView.
Microglial feimin deletion exacerbates lipotoxicity‐induced neuroinflammation and cognitive decline. In both in vitro and in vivo models, loss of feimin aggravated lipid droplet accumulation, IL‐1β/IL‐6 release, and neuronal injury through the PI3K–AKT–mTOR pathway, ultimately leading to severe neuronal apoptosis and cognitive impairment under high‐fat
Ran Gao, Zhonghua Xiong, Wenting Su, Jiahui Deng, Bin Zhai, Gaizhi Zhu, Min Zhang, Qi Zeng, Jinming Qiu, Ziqing Bian, He Xiao, Guoming Luan, Renxi Wang   +12 more
wiley   +1 more source

Human papilloma virus infection drives unique metabolic and immune profiles in head and neck and cervical cancers: implications for targeted therapies and prognostic markers

Discover Oncology
Human papillomavirus (HPV) is a key driver of head and neck squamous cell carcinoma (HNSCC) and cervical squamous cell carcinoma (CESC). Yet, these cancers exhibit distinct molecular and clinical features influenced by HPV status. This study utilizes RNA
Saira Hamid, Mohd Shahnawaz Khan, Meraj Alam Khan, Naoshad Muhammad, Mayank Singh, Ammira S. Al-Shabeeb Akil, Ajaz A. Bhat, Muzafar A. Macha   +7 more
doaj   +1 more source

Causal relationship between air pollution, lung function, gastroesophageal reflux disease, and non-alcoholic fatty liver disease: univariate and multivariate Mendelian randomization study

Frontiers in Public Health
BackgroundThe association between air pollution, lung function, gastroesophageal reflux disease, and Non-alcoholic fatty liver disease (NAFLD) remains inconclusive. Previous studies were not convincing due to confounding factors and reverse causality. We
Runmin Cao, Honghe Jiang, Yurun Zhang, Ying Guo, Weibin Zhang   +4 more
doaj   +1 more source

A framework for the investigation of pleiotropy in two‐sample summary data Mendelian randomization

Statistics in Medicine, 2017
Mendelian randomization (MR) uses genetic data to probe questions of causality in epidemiological research, by invoking the Instrumental Variable (IV) assumptions.
J. Bowden, F. Del Greco M, C. Minelli, G. Davey Smith, N. Sheehan, John F. Thompson   +5 more
semanticscholar   +1 more source

Population‐Based Multi‐Omics and Cohort Study Identifying Predictive Biomarkers and Therapeutic Targets for Psoriatic Disease

Advanced Science, EarlyView.
Psoriatic disease (PsD) is a chronic skin disease, with challenges in early risk stratification and drug development. Through gene‐level causal inference framework and expression level validation, combined with longitudinal cohort study, CDSN and PRSS8 have been identified as candidate biomarkers and therapeutic targets for PsD.
Tianxing Wu, Jialiang Luo, Haoyuan Qiu, Weijie Shao, Yueyang Lu, Meixuan Luo, Zhaofeng Lin, Yan Zhang, Libo Zhang, Hong Wang, Jia Zhou, Guangfeng Ruan, Peihua Cao, Daming Zuo   +13 more
wiley   +1 more source

G Protein‐Coupled Receptor Signaling: Implications and Therapeutic Development Advances in Cancers

MedComm
G protein‐coupled receptors (GPCRs) are the largest and most diverse class of membrane proteins, mediating cellular responses to a wide range of extracellular stimuli.
Inamu Rashid Khan, Sana Khurshid, Saud Almawash, Rakesh Kumar, Ammira S. Al‐Shabeeb Akil, Ajaz A. Bhat, Muzafar A. Macha   +6 more
doaj   +1 more source

Genetics of Childhood Epilepsy

Pediatric Neurology Briefs, 2000
Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj   +1 more source

Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke

Nature Communications, 2022
Mendelian randomization can be used to mimic the effects of protein-targeting drugs in a population of individuals. Here, the authors have identified potential causal proteins for stroke in a two-sample Mendelian randomization framework, providing ...
Lingyan Chen, James E. Peters, Bram Prins, Elodie Persyn, Matthew Traylor, Praveen Surendran, Savita Karthikeyan, Ekaterina Yonova-Doing, Emanuele Di Angelantonio, David J. Roberts, Nicholas A. Watkins, Willem H. Ouwehand, John Danesh, Cathryn M. Lewis, Paola G. Bronson, Hugh S. Markus, Stephen Burgess, Adam S. Butterworth, Joanna M. M. Howson   +18 more
doaj   +1 more source