Results 41 to 50 of about 245,577 (122)

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

Study on the causal relationship between educational attainment and delirium: A two-sample Mendelian randomization study

Heliyon
This study aimed to investigate whether there is a causal relationship between educational attainment and delirium at the genetic level using the Mendelian randomization method, and provide new evidence for studies in this field.
Xianjie Wan, Hui Yu, Mingyi Yang, Weikun Hou, Jiale Xie, Ke Xu, Yujie Ma, Rui Ma, Fan Wang, Peng Xu   +9 more
doaj   +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

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

Gene panel for Mendelian strokes

Stroke and Vascular Neurology, 2020
Background Mendelian stroke causes nearly 7% of ischaemic strokes and is also an important aetiology of cryptogenic stroke. Identifying the genetic abnormalities in Mendelian strokes is important as it would facilitate therapeutic management and genetic ...
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

Presume It Not: True Causes in the Search for the Basis of Heredity [PDF]

, 2017
Kyle Stanford has recently given substance to the problem of unconceived alternatives, which challenges the reliability of inference to the best explanation (IBE) in remote domains of nature.
Novick, Aaron, Scholl, Raphael
core   +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

Evolutionary Multiplayer Games

, 2014
Evolutionary game theory has become one of the most diverse and far reaching theories in biology. Applications of this theory range from cell dynamics to social evolution.
Gokhale, Chaitanya S., Traulsen, Arne
core   +1 more source