Search Results - "Junna, Nella"
-
1
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
Published in International journal of cardiology (01-01-2018)“…Ventricular fibrillation (VF) is a major cause of sudden cardiac death. In some cases clinical investigations fail to identify the underlying cause and the…”
Get full text
Journal Article -
2
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease
Published in Atherosclerosis (01-12-2023)“…Severe hypercholesterolemia (LDL-cholesterol ≥ 5 mmol/l) is a major risk factor for coronary artery disease (CAD). The etiology incudes both genetic and…”
Get full text
Journal Article -
3
Large registry-based analysis of genetic predisposition to tuberculosis identifies genetic risk factors at HLA
Published in Human molecular genetics (01-01-2023)“…Tuberculosis is a significant public health concern resulting in the death of over 1 million individuals each year worldwide. While treatment options and…”
Get full text
Journal Article -
4
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes
Published in Nature genetics (01-03-2024)“…Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide 1 , 2 . GDM is related to an…”
Get full text
Journal Article -
5
How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study
Published in Circulation. Genomic and precision medicine (01-04-2022)“…Prediction tools that combine polygenic risk scores with clinical factors provide a new opportunity for improved prediction and prevention of atherosclerotic…”
Get full text
Journal Article -
6
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Published in Human mutation (01-01-2015)“…ABSTRACT KIF1A is a neuron‐specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously…”
Get full text
Journal Article -
7
LIN28B affects gene expression at the hypothalamic-pituitary axis and serum testosterone levels
Published in Scientific reports (02-12-2019)“…Genome-wide association studies (GWAS) have recurrently associated sequence variation nearby LIN28B with pubertal timing, growth and disease. However, the…”
Get full text
Journal Article -
8
Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes
Published in BMC medical genomics (04-06-2022)“…Head circumference is associated with intelligence and tracks from childhood into adulthood. We performed a genome-wide association study meta-analysis and…”
Get full text
Journal Article -
9
-
10
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress
Published in BBA clinical (01-06-2015)“…HSPB1 belongs to the family of small heat shock proteins (sHSP) that have importance in protection against unfolded protein stress, in cancer cells for…”
Get full text
Journal Article