Results 1 to 10 of about 133,969 (268)

Effects of epigenetic age acceleration on kidney function: a Mendelian randomization study

Clinical Epigenetics, 2023
Background Previous studies have reported cross-sectional associations between measures of epigenetic age acceleration (EAA) and kidney function phenotypes. However, the temporal and potentially causal relationships between these variables remain unclear.
Yang Pan, Xiao Sun, Zhijie Huang, Ruiyuan Zhang, Changwei Li, Amanda H. Anderson, James P. Lash, Tanika N. Kelly   +7 more
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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
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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
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Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Nature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous, Ninon Mounier, Zoltán Kutalik   +2 more
doaj   +1 more source

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
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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
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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
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MENDELSEEK: An algorithm that predicts mendelian genes and elucidates what makes them special.

PLoS Computational Biology
Although individual Mendelian diseases-those caused by a single gene-are rare, their collective disease burden is substantial. Identifying the causal gene for each condition is essential for accurate diagnosis and effective treatment.
Hongyi Zhou, Brice Edelman, Jeffrey Skolnick   +2 more
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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 ...
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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