The Finnish genetic heritage in 2022–from diagnosis to translational research

J Uusimaa, J Kettunen, T Varilo… - Disease Models & …, 2022 - journals.biologists.com
Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

[HTML][HTML] Altered sialin mRNA gene expression in type 2 diabetic male Wistar rats: implications for nitric oxide deficiency

N Yousefzadeh, S Jeddi, M Zarkesh, K Kashfi… - Scientific Reports, 2023 - nature.com
Nitrate therapy has been suggested to boost nitric oxide (NO) levels in type 2 diabetes
(T2D); however, little is known about nitrate transport across the membranes. This study …

Knockout mice are an important tool for human monogenic heart disease studies

P Cacheiro, N Spielmann… - Disease Models & …, 2023 - journals.biologists.com
Mouse models are relevant to studying the functionality of genes involved in human
diseases; however, translation of phenotypes can be challenging. Here, we investigated …

[HTML][HTML] Genetically modified mice for research on human diseases: A triumph for Biotechnology or a work in progress?

RE Brown - The EuroBiotech Journal, 2022 - sciendo.com
Genetically modified mice are engineered as models for human diseases. These mouse
models include inbred strains, mutants, gene knockouts, gene knockins, and …

[PDF][PDF] The Finnish genetic heritage in 2022–from diagnosis to translational research

E Rahikkala, A Suomalainen, R Tikkanen18… - 2022 - academia.edu
Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

[引用][C] Characterisation of a novel mouse model with a disease-causing Colony Stimulating Factor 1 Receptor mutation

J Stables - 2023 - espace.library.uq.edu.au
Colony Stimulating Factor 1 Receptor (CSF1R) signalling is essential for the differentiation,
maintenance, and proliferation of macrophages. A seminal study in 2011 identified …