A5050894307- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Nuclear Structure and Function
- RNA Research and Splicing
- Cardiovascular Function and Risk Factors
- Vasculitis and related conditions
- SARS-CoV-2 and COVID-19 Research
- Congenital heart defects research
- Educational Environments and Student Outcomes
- Renal Diseases and Glomerulopathies
- Cardiac pacing and defibrillation studies
- Cardiac Valve Diseases and Treatments
- Research in Social Sciences
- RNA modifications and cancer
- Art Education and Development
- Endoplasmic Reticulum Stress and Disease
University of California, Los Angeles
2022
National Institute of Diabetes and Digestive and Kidney Diseases
2022
National Institutes of Health
2022
Helsinki University Hospital
2013-2021
University of Helsinki
2014-2016
AimsDespite our increased understanding of the genetic basis dilated cardiomyopathy (DCM), clinical utility and yield clinically meaningful findings comprehensive next-generation sequencing (NGS)-based diagnostics in DCM has been poorly described. We utilized a high-quality oligonucleotide-selective (OS-Seq)-based targeted panel to investigate landscape Finnish population evaluate OS-Seq technology as novel diagnostic tool.
Background: Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cell metabolism and has distinctive histopathology with excess intracellular glycogen, prognosis different from sarcomeric hypertrophic cardiomyopathy.We aimed define distinct characteristics using cardiovascular magnetic resonance (CMR).Methods: CMR (1.5 T) genetic testing were performed in two families harboring mutations.On CMR, segmental analysis left ventricular (LV) hypertrophy (LVH),...
Mutations in the LMNA gene encoding lamins A and C of nuclear lamina are a frequent cause cardiomyopathy accounting for 5-8% familial dilated (DCM). Our aim was to study disease onset, presentation progression among mutation carriers.Clinical follow-up data from 27 carriers 78 patients with idiopathic DCM without an were collected. In addition, ECG collected analysed systematically 20 healthy controls.Kaplan-Meier analysis revealed no difference event-free survival (death, heart transplant,...
Mutation of the LMNA gene, encoding nuclear lamin A and C (hereafter A/C), is a common cause familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, founder mutation c.427T>C (p.S143P) most frequently reported genetic variant. Here, we show that p.S143P A/C more nucleoplasmic soluble than wild-type accumulates into large intranuclear aggregates in fraction cultured patient fibroblasts as well cells ectopically expressing either FLAG- or GFP-tagged A. In fluorescence loss...
Key Points IgAN and MCD are the most common de novo glomerular diseases reported after COVID-19 vaccination, particularly mRNA vaccination. Membranous nephropathy, pauci-immune GN, collapsing GN have also been attributed to some with dual histologies. Recovery of kidney function proteinuria remission is more likely in by 4–6 months compared other diseases. Background Patients disease (GD) various renal histologies vaccination against SARS-CoV-2. Causality has not established, long-term...
Summary Background LMNA mutations are an important cause of cardiomyopathy often leading to cardiac arrhythmias, heart failure and even transplantation. An increasing number asymptomatic mutation carriers identified, as family members the index patients screened. Our aim was study disease progression in with symptomatic cardiolaminopathy by repeated spiroergometric testing a prospective clinical follow‐up study. Methods Results We studied 26 once year during 5 years up 6 times...
LMNA-cardiomyopathy is often associated with pathology in the cardiac conduction system necessitating device implantations. The aim was to study timing and types of implantations need for re-implantations LMNA mutation carriers. We studied hospital records 60 carriers concerning their indications. Data were collected until April 2019. median follow-up time from first ECG recording last clinical follow-up, transplantation, or death 7.7 (IQR=9.1) years. Altogether 61.7% (n=37) received a...
LMNA mutations are amongst the most important causes of familial dilated cardiomyopathy. The cause arrhythmogenic right ventricular cardiomyopathy (ARVC) is desmosomal pathology. aim study was to elucidate role among Finnish patients. We screened 135 unrelated patients for mutations. Because unusual phenotype, two were known ARVC-related genes, and their Plakophilin-2b gene sequenced. Myocardial samples from examined by immunohistochemical plakoglobin staining in one case electron...