Results 21 to 30 of about 184,242 (260)

Equus in Online Mendelian Inheritance in Animals (OMIA)

Animals
Online Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for Equus inherited traits/diseases (collectively called phenes).
Imke Tammen, Ernest Bailey, Marius Mather, Frank W. Nicholas   +3 more
doaj   +1 more source

IDENTIFYING CAUSAL GENETIC VARIANTS IN PSYCHIATRIC DISORDERS USING SUMMARY DATA BASED MENDELIAN RANDOMIZATION

, 2019
IDENTIFYING CAUSAL GENETIC VARIANTS IN PSYCHIATRIC DISORDERS USING SUMMARY DATA BASED MENDELIAN ...
Straub, Richard E., Pergola, Giulio, Chen, Qiang, Kleinman, Joel E., Sadashivaiah, Vijay, Jaffe, Andrew E., Shin, Joo Heon, Radulescu, Eugenia, Hyde, Thomas M., Weinberger, Daniel R.   +9 more
core   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Orphanet Journal of Rare Diseases
Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals.
Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly   +13 more
doaj   +1 more source

Genetically Predicted Circulating Lipid Traits and Risk of Primary Open-Angle Glaucoma: A Mendelian Randomization Study

Biomedicines
Background: Observational studies examining the relationship between serum lipids and primary open-angle glaucoma (POAG) have yielded inconsistent findings, limiting causal inference.
Ahmed El Ashry, Mahmoud El Ashry, Hajirah N. Saeed, Abdelrahman M. Elhusseiny   +3 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Clustered environments and randomized genes: a fundamental distinction between conventional and genetic epidemiology. [PDF]

, 2007
BACKGROUND: In conventional epidemiology confounding of the exposure of interest with lifestyle or socioeconomic factors, and reverse causation whereby disease status influences exposure rather than vice versa, may invalidate causal interpretations of ...
Timpson, NJ, Timpson, Nic, Harbord, RM, Day, Ian, Timpson Nic, Lawlor, D, Smith George Davey, Smith, George Davey, Lawlor, Debbie A, Ebrahim, S, Harbord, Roger, Day Ian, Debbie A Lawlor, Nic Timpson, George Davey Smith, Ian Day, Shah Ebrahim, Roger Harbord, Lawlor Debbie A, Day, INM, Davey Smith, G, Ebrahim, Shah, Harbord Roger, Ebrahim Shah   +23 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The Mendelian and Non-Mendelian Origins of Genetics [PDF]

, 2015
Mendel's paper as part of a large body of nineteenth-century literature on practical plant- and animal breeding and experimental hybridization, which contained a confusing and contradictory assortment of observations on heredity, some in line with Mendel’
Gliboff, Sander
core   +2 more sources

The Hidden Complexity of Mendelian Traits across Natural Yeast Populations

Cell Reports, 2016
Mendelian traits are considered to be at the lower end of the complexity spectrum of heritable phenotypes. However, more than a century after the rediscovery of Mendel’s law, the global landscape of monogenic variants, as well as their effects and ...
Jing Hou, Anastasie Sigwalt, Téo Fournier, David Pflieger, Jackson Peter, Jacky de Montigny, Maitreya J. Dunham, Joseph Schacherer   +7 more
doaj   +1 more source