Results 141 to 150 of about 78,400 (304)

Heterozygote advantage fails to explain the high degree of polymorphism of the MHC

, 2004
Major histocompatibility (MHC) molecules are encoded by extremely polymorphic genes and play a crucial role in vertebrate immunity. Natural selection favors MHC heterozygous hosts because individuals heterozygous at the MHC can present a larger diversity
van Boven, M, Boven, M., Kesmir, C., Borghans, J.A.M., van Boven, R.M., Borghans, José A. M., Weissing, Franz J, Weissing, F.J., Kesmir, Can, Boven, R.M., van, Boer, R.J., de, De Boer, RJ, Borghans, JAM, Weissing, FJ; id_orcid, de Boer, R.J., de Boer, Rob J., van Boven, Michiel, Kesmir, C, Weissing, FJ, Boer, R.J. de   +19 more
core   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

A noncanonical role for Jagged1 in endothelial mechanotransduction

The FEBS Journal, EarlyView.
This study reveals a noncanonical role for Jagged1 in endothelial mechanotransduction. Shear stress modulates Jagged1 expression and subcellular localization. Loss of Jagged1 attenuates mechanotransduction and reduces Src, VEGFR2, and ERK signaling. Direct mechanical stimulation of Jagged1 induces activation of these signaling pathways.
Freddy Suarez Rodriguez, Noora Virtanen, Elmeri Kiviluoto, Rob C. H. Driessen, Feihu Zhao, Carlijn V. C. Bouten, Oscar M. J. A. Stassen, Cecilia M. Sahlgren   +7 more
wiley   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Genetic Diversity and Impacts of Stocking on Cyprinus carpio Populations in Türkiye: Insights From Mitochondrial, Nuclear, and Microsatellite Markers

Fisheries Management and Ecology, EarlyView.
ABSTRACT Understanding genetic diversity and population structure is essential for the sustainable management of widely stocked freshwater species such as common carp (Cyprinus carpio). In this study, we conducted a comprehensive genetic assessment of C.
Meryem Cansu Yesiltaş, Rafet Çağrı Öztürk, Emre Keskin, Ilhan Altinok   +3 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

A single nucleotide polymorphism genotyping panel for efficient genetic stock identification of the Teno river Atlantic salmon (Salmo salar) population complex

Journal of Fish Biology, EarlyView.
Abstract A new single nucleotide polymorphism (SNP) panel for genetic stock identification in the Teno river Atlantic salmon, Salmo salar L., fishery was developed, with a view to improving on an existing microsatellite panel. Twenty‐two genetically differentiated reporting units were proposed based on population genetic analyses of 1212 individuals ...
Helena Johansson, Jaakko Erkinaro, Morten Falkegård, Anders Foldvik, Panu Orell, Craig R. Primmer, Victoria L. Pritchard   +6 more
wiley   +1 more source

DNA extracted from boiled archival fish bones yields high‐quality whole‐genome sequencing data

Journal of Fish Biology, EarlyView.
Abstract Archival samples provide a unique source of organismal DNA, offering the potential to extend the temporal scale of genetic studies by decades to centuries. Fish hard structures, such as otoliths and scales, serve as records for fish collected during fisheries monitoring across a large spatiotemporal scale.
Jingyao Niu, Anti Vasemägi, María‐Eugenia López, Lilian Pukk, Magnus Huss, Anna Gårdmark   +5 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Angiopoietin‐like protein 3 complete and partial deficiency markedly accelerates apolipoprotein B48 and B100 metabolism in triglyceride‐rich lipoproteins in humans

Journal of Internal Medicine, EarlyView.
Abstract Background Angiopoietin‐like protein 3 (ANGPTL3) is a key circulating regulator of triglyceride metabolism and a promising pharmacological target. The physiological consequences of profound ANGPTL3 deficiency can be explored in individuals with inherited loss‐of‐function (LOF) variants, who show reduced lifetime risk of atherosclerotic ...
Marcello Arca, Elias Björnson, Laura D'Erasmo, Alessia Di Costanzo, Simone Bini, Ilenia Minicocci, Daniele Tramontano, Stella Covino, Giuseppe Ciarlo, Manuela Lombardi, Sanni Söderlund, Niina Matikainen, Linda Andersson, Martin Adiels, Marja‐Riitta Taskinen, Chris J. Packard, Jan Borén   +16 more
wiley   +1 more source