Results 31 to 40 of about 133,969 (268)

Evolution in Mendelian populations [PDF]

Bulletin of Mathematical Biology, 1931
The frequency of a given gene in a population may be modified by a number of conditions including recurrent mutation to and from it, migration, selection of various sorts and, far from least in importance, were chance ...
openaire   +3 more sources

Mendelian and Non-Mendelian Regulation of Gene Expression in Maize

PLoS Genetics, 2013
Transcriptome variation plays an important role in affecting the phenotype of an organism. However, an understanding of the underlying mechanisms regulating transcriptome variation in segregating populations is still largely unknown. We sought to assess and map variation in transcript abundance in maize shoot apices in the intermated B73 × Mo17 ...
Lin Li, Katherine Petsch, Rena Shimizu, Sanzhen Liu, Wayne Wenzhong Xu, Kai Ying, Jianming Yu, Michael J Scanlon, Patrick S Schnable, Marja C P Timmermans, Nathan M Springer, Gary J Muehlbauer   +11 more
openaire   +4 more sources

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records

Orphanet Journal of Rare Diseases
Background Accurate and early diagnosis to optimise rare disease care is a global priority. With recent developments in artificial intelligence (AI)-based solutions, a promising area to improve rare disease diagnosis is the application of AI to routinely
Freya Boardman-Pretty, Jyothika Kumar, Calum Grant, Elena Marchini, William Evans, Lara Menzies, Rand Dubis, Amanda Worker, Elizabeth Varones, Alan Warren, Jack Sams, Daniel Ollerenshaw, Jez Stockdale, Hadley Mahon, Peter Fish   +14 more
doaj   +1 more source

Circulating Plasma Proteins as Biomarkers for Immunotherapy Toxicity: Insights from Proteome-Wide Mendelian Randomization and Bioinformatics Analysis

Biomedicines
Background: Immune checkpoint inhibitors (ICIs) have transformed cancer treatment, yet severe immune-related adverse events (irAEs) often necessitate immunotherapy discontinuation and cause life-threatening complications.
Liansha Tang, Wenbo He, Handan Hu, Jiyan Liu, Zhike Li   +4 more
doaj   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 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

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

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

Causal relationship between obesity and iron deficiency anemia: a two-sample Mendelian randomization study

Frontiers in Public Health, 2023
BackgroundObservational studies have suggested an association between obesity and iron deficiency anemia, but such studies are susceptible to reverse causation and residual confounding.
Tingting Wang, Qi Gao, Yuanyuan Yao, Ge Luo, Tao Lv, Guangxin Xu, Mingxia Liu, Jingpin Xu, Xuejie Li, Dawei Sun, Zhenzhen Cheng, Ying Wang, Chaomin Wu, Ruiyu Wang, Jingcheng Zou, Min Yan   +15 more
doaj   +1 more source