0000000000768869

AUTHOR

Jaana Putula

showing 2 related works from this author

Involvement of cyclin-dependent kinase-5 in the kainic acid-mediated degeneration of glutamatergic synapses in the rat hippocampus

2011

Increased levels of glutamate causing excitotoxic damage accompany neurological disorders such as ischemia/stroke, epilepsy and some neurodegenerative diseases. Cyclin-dependent kinase-5 (Cdk5) is important for synaptic plasticity and is deregulated in neurodegenerative diseases. However, the mechanisms by which kainic acid (KA)-induced excitotoxic damage involves Cdk5 in neuronal injury are not fully understood. In this work, we have thus studied involvement of Cdk5 in the KA-mediated degeneration of glutamatergic synapses in the rat hippocampus. KA induced degeneration of mossy fiber synapses and decreased glutamate receptor (GluR)6/7 and post-synaptic density protein 95 (PSD95) levels in…

0303 health sciencesKainic acidGeneral NeuroscienceCyclin-dependent kinase 5ExcitotoxicityGlutamate receptorBiologyHippocampal formationmedicine.disease_cause3. Good healthCell biology03 medical and health sciencesGlutamatergicchemistry.chemical_compound0302 clinical medicinenervous systemchemistrySynaptic plasticitymedicineReceptorNeuroscience030217 neurology & neurosurgery030304 developmental biologyEuropean Journal of Neuroscience
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Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity

2023

Lynch syndrome (LS) is the most common hereditary cancer syndrome. Early diagnosis improves prognosis and reduces health care costs, through existing cancer surveillance methods. The problem is finding and diagnosing the cancer predisposing genetic condition. The current workup involves a complex array of tests that combines family cancer history and clinical phenotypes with tumor characteristics and sequencing data, followed by a challenging task to interpret the found variant(s). On the basis of the knowledge that an inherited mismatch repair (MMR) deficiency is a hallmark of LS, we have developed and validated a functional MMR test, DiagMMR, that detects inherited MMR deficiency directly…

syöpägeenittestausmenetelmätvalidointi3122 CancerssyöpätauditLynchin oireyhtymädiagnostiikka
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