neurogenetics

People with a rare genetic disorder that damages the amygdala are helping neuroscientists rethink how the brain shapes fear, trust and concern for others

The female brain undergoes profound changes to prepare for parenthood. Yet even though the male...

Abstract Background In genetic terms, the history of a population can be described by its effective population size over time. We know that domestic cattle have gone through dramatic changes in recent history, including intensifying selection in modern breeding programs and replacement of traditional breeds. In this work, we use linkage disequilibrium-based methods to estimate recent population h…

Children and teenagers with a higher body mass index exhibit unique brain wave patterns that point to a reduction in neural inhibition. These neurological differences might make it harder for affected youths to alter ingrained dietary habits.

Abstract Spinal muscular atrophy (SMA) results from a deficiency of the survival motor neuron (SMN) protein. Zolgensma, an adeno-associated virus (AAV)-based SMN1 gene-replacement therapy, is approved for SMA, though its long-term efficacy and safety remain uncertain. This study compares a Zolgensma-like benchmark vector with a 2nd-generation vector featuring a codon-optimized SMN1 transgene unde…

CAMRS v0.1 is a proposed scaffold for reporting cross-ancestry, trans-ancestry, multi-ancestry, and multi-ethnic Mendelian randomization (MR) studies. It is offered by a single author as a starting template for a future community Delphi consensus process; it is not a finalised reporting standard and is not endorsed by any consortium, society, or journal. The 18 proposed items are anchored against…

Far from a blank slate, the infant brain begins with an overabundance of random neural connections. Neuroscientists discovered how trimming this excess wiring transforms the hippocampus into a powerful, structured memory machine.

By triggering a carefully chosen group of neurons in the brains of mice, scientists were able to implant false memories - much like in Nolan's 'Inception'.

BACKGROUND Rare and complex clinical cases often lack standardized management protocols, posing significant diagnostic and therapeutic challenges. Multidisciplinary team (MDT) collaboration provides holistic perspectives by integrating surgical, medical, radiological, pathological, and psychosocial expertise. Concurrently, innovative research - including precision medicine, artificial intelligenc…

Abstract Background The proliferation and dissemination of carbapenem-resistant Klebsiella pneumoniae (CRKP) constitutes a critical public health concern, underscoring the urgent need for novel antimicrobial agents. In this study, we identified cladribine, a synthetic purine analogue, as a potential antimicrobial candidate against CRKP. Results Cladribine exhibited an MIC of 64 μg/mL against clin…

Abstract Ovotesticular disorders of sex development (DSD) are variations in sex development characterized by the presence of both ovarian and testicular parenchyma in the same individual, with histopathologic confirmation being mandatory for accurate diagnosis. FOXL2, a transcription factor involved in ovarian differentiation and maintenance, has emerged as a potential immunohistochemical marker …

Abstract Background Checkpoint kinase 2 (CHEK2) is a tumor suppressor that safeguards genome integrity in the nucleus. It is also localized at the mother centriole. But the role of CHEK2 in this structure remains unclear. The primary cilium acts as a sensory organelle that regulates various aspects of cell behavior. However, the connection between CHEK2 and primary cilia has not been elucidated. …