Mouse models of ciliopathies: the state of the art

DP Norris, DT Grimes - Disease models & mechanisms, 2012 - journals.biologists.com
The ciliopathies are an apparently disparate group of human diseases that all result from
defects in the formation and/or function of cilia. They include disorders such as Meckel …

Rapamycin extends murine lifespan but has limited effects on aging

F Neff, D Flores-Dominguez, DP Ryan, M Horsch… - The Journal of clinical …, 2013 - jci.org
Aging is a major risk factor for a large number of disorders and functional impairments.
Therapeutic targeting of the aging process may therefore represent an innovative strategy in …

Mouse genetic and phenotypic resources for human genetics

PN Schofield, R Hoehndorf, GV Gkoutos - Human mutation, 2012 - Wiley Online Library
The use of model organisms to provide information on gene function has proved to be a
powerful approach to our understanding of both human disease and fundamental …

Calcitonin controls bone formation by inhibiting the release of sphingosine 1-phosphate from osteoclasts

J Keller, P Catala-Lehnen, AK Huebner… - Nature …, 2014 - nature.com
The hormone calcitonin (CT) is primarily known for its pharmacologic action as an inhibitor
of bone resorption, yet CT-deficient mice display increased bone formation. These findings …

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

MH Schludi, L Becker, L Garrett, TF Gendron… - Acta …, 2017 - Springer
Translation of the expanded (ggggcc) n repeat in C9orf72 patients with amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) causes abundant poly-GA inclusions. To …

Generation and comparative analysis of an Itga8-CreERT2 mouse with preferential activity in vascular smooth muscle cells

G Warthi, JL Faulkner, J Doja, AR Ghanam… - Nature cardiovascular …, 2022 - nature.com
All current smooth muscle cell (SMC) Cre mice similarly recombine floxed alleles in vascular
and visceral SMCs. Here we present an Itga8-CreER T2 knock-in mouse and compare its …

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model

E Auffenberg, UBS Hedrich, R Barbieri, D Miely… - The Journal of clinical …, 2021 - jci.org
Cortical spreading depression (CSD), a wave of depolarization followed by depression of
cortical activity, is a pathophysiological process implicated in migraine with aura and various …

Opa1 processing is dispensable in mouse development but is protective in mitochondrial cardiomyopathy

S Ahola, LA Pazurek, F Mayer, P Lampe… - Science …, 2024 - science.org
Mitochondrial fusion and fission accompany adaptive responses to stress and altered
metabolic demands. Inner membrane fusion and cristae morphogenesis depends on optic …

Clinical chemistry reference intervals for C57BL/6J, C57BL/6N, and C3HeB/FeJ mice (Mus musculus)

GP Otto, B Rathkolb, MA Oestereicher… - Journal of the …, 2016 - ingentaconnect.com
Although various mouse inbred strains are widely used to investigate disease mechanisms
and to establish new therapeutic strategies, sex-specific reference intervals for laboratory …

METTL6 is a tRNA m3C methyltransferase that regulates pluripotency and tumor cell growth

VV Ignatova, S Kaiser, JSY Ho, X Bing, P Stolz… - Science …, 2020 - science.org
Recently, covalent modifications of RNA, such as methylation, have emerged as key
regulators of all aspects of RNA biology and have been implicated in numerous diseases …