[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 at least two …

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 years. …

[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. BACKGROUND …

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

…, SR Cummings, MA Nalls, A Jula, KK Kontula… - 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 …

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 …

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 undertook …

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 …