Understanding large scale sequencing datasets through changes to protein folding

D Shorthouse, H Lister, GS Freeman… - Briefings in Functional …, 2024 - academic.oup.com
The expansion of high-quality, low-cost sequencing has created an enormous opportunity to
understand how genetic variants alter cellular behaviour in disease. The high diversity of …

Assessment of the bound conformation of bombesin to the BB1 and BB2 receptors

G Vila-Julià, J Rubio-Martinez, JJ Perez - International journal of biological …, 2024 - Elsevier
Bombesin is an endogenous peptide involved in a wide spectrum of physiological activities
ranging from satiety, control of circadian rhythm and thermoregulation in the central nervous …

Assessment of the bound conformation of Bombesin to the BB1 and BB2 Receptors

G Vila-Julià, J Rubio-Martinez, JJ Perez - bioRxiv, 2023 - biorxiv.org
Bombesin is an endogenous peptide involved in a wide spectrum of physiological activities
ranging from satiety, control of circadian rhythm and thermoregulation in the central nervous …

[HTML][HTML] NPFFR2 gene compound heterozygous variants associated with preeclampsia identified by whole-exome sequencing

H Jiang, L Wang, J Zhu, Z Ping - Gene, 2023 - Elsevier
Background Preeclampsia (PE) is an idiopathic disorder of pregnancy. The exact cause of
PE remains unknown. Emerging evidence indicates that the cause of PE is linked to genetic …