[HTML][HTML] Family and twin studies in inflammatory bowel disease

…, M Lappalainen, M Färkkilä, K Kontula - World journal of …, 2006 - ncbi.nlm.nih.gov
Studies examining the inheritance of inflammatory bowel disease (IBD) within different
family groups have been the basis for recent molecular advances in the genetics of IBD. The …

Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia

AR Marks, S Priori, M Memmi, K Kontula… - Journal of cellular …, 2002 - Wiley Online Library
The cardiac ryanodine receptor (RyR2), the major calcium release channel on the
sarcoplasmic reticulum (SR) in cardiomyocytes, has recently been shown to be involved in …

Helsinki alert of biodiversity and health

…, MC Jenmalm, J Kere, M Knip, K Kontula… - Annals of …, 2015 - Taylor & Francis
Urban living in built environments, combined with the use of processed water and food, may
not provide the microbial stimulation necessary for a balanced development of immune …

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

…, M Viitasalo, L Toivonen, DA Stephan, K Kontula - Circulation, 2001 - Am Heart Assoc
Background—Familial polymorphic ventricular tachycardia is an autosomal-dominant,
inherited disease with a relatively early onset and a mortality rate of≈ 30% by the age of 30 …

[HTML][HTML] Apolipoprotein E, dementia, and cortical deposition of β-amyloid protein

…, L Niinistö, P Halonen, K Kontula - … England Journal of …, 1995 - Mass Medical Soc
Background The ε4 allele of apolipoprotein E has been associated with an increased risk of
late-onset Alzheimer's disease. In a cohort of elderly subjects we prospectively investigated …

Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

…, K Kainulainen, J Kere, P Keto, K Kontula… - Journal of the American …, 1999 - jacc.org
OBJECTIVES The purpose of this study was to provide clinical and anatomical
characteristics as well as genetic background of a malignant arrhythmogenic disorder …

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

AC Syvänen, K Aalto-Setälä, L Harju, K Kontula… - Genomics, 1990 - Elsevier
We describe a new technique by which single base changes in human genes can be
conveniently detected. In this method the DNA fragment of interest is first amplified using the …

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

DE Arking, SL Pulit, L Crotti, P Van Der Harst… - Nature …, 2014 - nature.com
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a
heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac …

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

…, HU Marschall, P Milkiewicz, A Pares, K Kontula… - Nature …, 2017 - nature.com
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct
destruction;∼ 75% of patients have comorbid inflammatory bowel disease (IBD). We …

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

…, E Kerkelä, J Hyttinen, K Kontula… - Disease models & …, 2012 - journals.biologists.com
Long QT syndrome (LQTS) is caused by functional alterations in cardiac ion channels and is
associated with prolonged cardiac repolarization time and increased risk of ventricular …