Results 31 to 40 of about 271,662 (318)

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

Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes [PDF]

, 2018
Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588 ...
Alessi, Elena, Bagella, FRANCESCO MARIA, Bailetti, Diego, Barchetta, Ilaria, Baroni Marco, Giorgio., Bertoccini, Laura, Buzzetti, Raffaella, Capoccia, Danila, Cavallo, Maria Gisella, Coccia, Federica, Conti, Francesco, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, D'Onofrio, Luca, De Cosmo, Salvatore, Di Mauro, Lazzaro, Filardi, Tiziana, Gianluca, Margiotta, Giulia, Leanza, Incani, Michela, Leonetti, Frida, Maria Giovanna Scarale,, Morano, Susanna, Moretti, Chiara, Morviducci, Lelio, Napoli, Nicola, Pamela, Piscitelli, Pezzilli, Serena, Pibiri, Carlotta, Prudente, Sabrina, Pugliese, Giuseppe, Sentinelli, Federica, Silvia, Carletti, SUMMER Study in Diabetes Group (Summer,, Tavaglione, Federica, Trischitta, Vincenzo   +36 more
core   +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

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

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. [PDF]

, 2018
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use
Alver, Maris, Bloom, Jonathan, Budoff, Matthew, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Daly, Mark J, Engreitz, Jesse, Ernst, Jason, Esko, Tonu, Fu, Mao, Ganna, Andrea, Handsaker, Robert E, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Manichaikul, Ani, McCarroll, Steven, Metspalu, Andres, Mitchell, Braxton D, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, Peloso, Gina M, Post, Wendy, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni, Ryan, Kathleen A, Salomaa, Veikko, Seed, Cotton, Surakka, Ida, Tsai, Michael, Vasan, Ramachandran S, Wilson, James G, Yang, Chaojie, Zekavat, Seyedeh M   +38 more
core   +1 more source

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

Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]

, 2016
The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana, Drury, Eleanor, Ferdig, Michael, Gould, Kelda, Hayton, Karen, Iqbal, Zamin, Kwiatkowski, Dominic, MacInnis, Bronwyn, McVean, Gil, Mead, Daniel, Miles, Alistair, Mwangi, Jonathan, O'Brien, John, Pearson, Richard, Ranford-Cartwright, Lisa, Rayner, Julian, Ruano Rubio, Valentin, Samarakoon, Upeka, Su, Xin-zhuan, Theron, Michel, Vauterin, Paul, Wellems, Thomas   +21 more
core   +3 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 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

Causal effects of physical activity on the risk of overall ovarian cancer: A Mendelian randomization study

Digital Health, 2023
Objective Inconsistent results were reported on the association of physical activity with ovarian cancer. However, given the limitations of confounders and inverse causation, the validity of the association remained unclear. Therefore, we conducted a two-
Jing Wang, Huanling Zhao, Jiahao Zhu, Minmin Jiang   +3 more
doaj   +1 more source