Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1
Children with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease ...
Sagar Bhattad +6 more
doaj +1 more source
An alternative approach to medical genetics based on modern evolutionary biology. Part 2: retroviral symbiosis [PDF]
Frank Ryan
openalex +1 more source
Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley +1 more source
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. [PDF]
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects.
Alver, Maris +99 more
core
Methodology in Medical Genetics. An Introduction to Statistical Methods [PDF]
P. S. Harper
openalex +1 more source
The role of histone modifications in transcription regulation upon DNA damage
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies [PDF]
Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted
Gilles de la Tourette GWAS Replication Initiative +4 more
core +1 more source
Function‐driven design of a surrogate interleukin‐2 receptor ligand
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang +9 more
wiley +1 more source
Mechanisms of parasite‐mediated disruption of brain vessels
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira +3 more
wiley +1 more source
Race in the Life Sciences: An Empirical Assessment, 1950-2000 [PDF]
The mainstream narrative regarding the evolution of race as an idea in the scientific community is that biological understandings of race dominated throughout the nineteenth and twentieth centuries up until World War II, after which a social ...
Darling, Katherine +3 more
core +1 more source

