A5057888924- Osteoarthritis Treatment and Mechanisms
- Spine and Intervertebral Disc Pathology
- Cardiac electrophysiology and arrhythmias
- Reproductive System and Pregnancy
- Musculoskeletal pain and rehabilitation
- Adipokines, Inflammation, and Metabolic Diseases
- Regulation of Appetite and Obesity
- Cardiovascular Function and Risk Factors
- melanin and skin pigmentation
- Endometriosis Research and Treatment
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Cardiovascular Effects of Exercise
- Apelin-related biomedical research
- Cardiomyopathy and Myosin Studies
- Genomics, phytochemicals, and oxidative stress
- MicroRNA in disease regulation
- Bone Metabolism and Diseases
- Cell Adhesion Molecules Research
- Bone health and treatments
- Genetic factors in colorectal cancer
- Paraoxonase enzyme and polymorphisms
- Cardiac Fibrosis and Remodeling
- Calpain Protease Function and Regulation
University of Oulu
2015-2024
Oulu University Hospital
2020-2024
Imperial College London
2018
University of Sassari
1998
Abstract Endometriosis is a common complex inflammatory condition characterised by the presence of endometrium-like tissue outside uterus, mainly in pelvic area. It associated with chronic pain and infertility, its pathogenesis remains poorly understood. The disease typically classified according to revised American Fertility Society (rAFS) 4-stage surgical assessment system, although stage does not correlate well symptomatology or prognosis. Previously identified genetic variants are III/IV...
Abstract Objective: To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Study design: Chorionic villus sampling was conducted after cesarean section from the placentas of five women and controls for each group. Microarray analysis performed identify differences between groups. Results: Pathway showed over-representation ontology (GO) biological process terms related inflammatory immune response pathways,...
Apelin levels decline with age. This study demonstrates that in trained mice, apelin deficiency results a switch from fast type II myofibers to slow oxidative I myofibers. is associated concomitant change gene expression profile toward fatty acid utilization, indicating an aged-muscle phenotype exercised apelin-deficient mice. These data are of importance the design exercise programs for aging individuals and could offer therapeutic target maintain muscle mass.
Matrix metalloproteinase-8 (MMP-8) has oncosuppressive properties in various cancers. We attempted to assess MMP-8 function oral tongue squamous cell carcinoma (OTSCC). overexpressing OTSCC cells were used study the effect of on proliferation, apoptosis, migration, invasion and gene protein expression. Moreover, functions assessed orthotopic mouse cancer model by immunohistochemistry patient samples. reduced migration decreased expression MMP-1, cathepsin-K vascular endothelial growth...
Idiopathic pulmonary fibrosis (IPF) and lung cancer share common risk factors, epigenetic genetic alterations, the activation of similar signaling pathways poor survival. The aim this study was to examine gene expression profiles stromal cells from patients with IPF adenocarcinoma (ADC) as well normal lung. levels cultured derived non-smoking ADC tumor (n = 4) corresponding were investigated Affymetrix microarrays. collagen type IV alpha 1 chain, periostin matrix metalloproteinase-1 -3 in...
Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been identified but the contributing genes remain inadequately characterized. In search for novel variants candidate loci, we screened a cohort of 70 subjects with mild to severe skeletal fragility rare copy-number (CNVs). Our study included 15 primary before age 30 years 55 pathological fracture history normal BMD 16 years. A custom-made...
Osteoarthritis (OA) is the most common degenerative joint disorder and genetic factors have been shown to a significant role in its etiology. The first metatarsophalangeal (MTP I) highly susceptible development of OA due repetitive mechanical stress during walking. We used whole exome sequencing study defect(s) predisposing familial early-onset bilateral MTP I inherited an autosomal dominant manner. A nonsynonymous single nucleotide variant rs41310883 (c.524C>T, p.Thr175Met) TUFT1 gene was...
The prognostic significance of the major redox regulator nuclear factor erythroid-2-related (NRF2) is recognized in many cancers, but role NRF1 not generally well understood cancer. Our aim was to investigate these transcription factors conjunction with redox-related microRNAs naevi and melanoma. We characterized immunohistochemical expression NRF2 99 naevi, 88 primary skin melanomas, 67 lymph node metastases. In addition, mRNA miR-23B, miR-93, miR-144, miR-212, miR-340, miR-383, miR-510...
Cardiac fibrosis stiffens the ventricular wall, predisposes to cardiac arrhythmias and contributes development of heart failure. In present study, our aim was identify novel miRNAs that regulate could serve as potential therapeutic targets for myocardial fibrosis.Analysis samples from sudden death victims with extensive primary cause identified dysregulation miR-185-5p. Analysis resident cells mice subjected experimental model showed induction miR-185-5p expression specifically in...
The objective was to study the genetic etiology of Ménière’s disease (MD) using next-generation sequencing in three families with cases MD. Whole exome used identify rare variants co-segregating MD Finnish families. In silico estimations and population databases were estimate frequency pathogenicity variants. Variants validated genotyped from additional family members capillary sequencing. A geneMANIA analysis conducted investigate functional pathways protein interactions candidate genes....
Abstract Epidemiologic studies have identified an excess risk of lung cancer and mesothelioma among workers in the reprocessed textile industry Prato, Italy. These suggested that there may been asbestos hazard this although exposure was not known to exist. An industrial hygiene investigation conducted determine whether previous or current industry. Walk‐through surveys, environmental sampling, process documentation, management worker interviews were 13 reprocessing establishments....
Abstract The genetic background of Ménière's disease (MD) was studied in one patient with childhood‐onset MD and his grandfather affected middle age–onset MD. Whole‐exome sequencing performed the data were compared to 76 exomes from unrelated subjects without Thirteen rare inner ear expressed variants pathogenic estimations observed case These genes involved formation cell membranes or cytoskeleton participating death gene‐regulation pathways. His shared two variants: p.Y273N HMX2 p.L229F...
Abstract α-Melanocyte-stimulating hormone (α-MSH) regulates diverse physiological functions by activating melanocortin receptors (MC-R). However, the role of α-MSH and its possible target in heart remain completely unknown. Here we investigate whether could be involved pathological cardiac remodeling. We found that was highly expressed mouse with reduced ventricular levels after transverse aortic constriction (TAC). Administration a stable analog protected mice against TAC-induced...
Myocardial fibrosis is a common finding in victims of sudden cardiac death (SCD). Whole exome sequencing was performed 127 SCD with primary myocardial as the only pathological finding. These cases are derived from Fingesture study which has collected data autopsy-verified Northern Finland. A computational approach used to identify protein interactions cardiomyocytes. Associations identified variants disease endpoints were investigated Finnish national genetic (FinnGen) dataset. We 21...
ObjectiveThe aim of the study was to identify genetic variants predisposing primary hip and knee osteoarthritis (OA) in a sample Finnish families.MethodsGenome wide analysis performed using 15 independent families (279 individuals) originating from Central Finland identified as having multiple individuals with and/or OA. Targeted re-sequencing for three samples one 33-member, four-generation family contributing most significantly LOD score. In addition, exome sequencing members same...
Study Design. A family-based study. Objective. The aim of this study was to identify rare genetic factors predisposing Modic changes (MCs). Summary Background Data. Lumbar disc degeneration (LDD) is one the contributing behind low back pain (LBP). MC visualized as bone marrow signal intensity on magnetic resonance imaging (MRI) represent a specific phenotype LDD, which has stronger association with LBP than LDD without MC. Methods. set consisted two Finnish families: Family I included seven...
The prognostic significance of the major redox regulator, nuclear factor erythroid-2-related 2 (NRF2), is recognized in many cancers, but role NRF3 not studied. Analysis from Gene Expression Omnibus datasets showed that mRNA levels increased benign to dysplastic naevi (p = 0.04). We characterized immunohistochemical expression 81 naevi, 67 primary skin melanomas, and 51 lymph node metastases. cytoplasmic decreased < 0.001) further melanomas 0.001). High protein pigment cells associated with...
Introduction Osteoarthritis (OA) is the most common degenerative joint disease and one of major causes disability worldwide. It a multifactorial disorder with significant genetic component. The heritability OA has been estimated to be 60% for hip 39% knee OA. Genetic factors behind are still largely unknown. Studying families strong history OA, facilitates examining co-segregation variation aim this study was identify new, rare novel candidate genes Methods Eight patients from three Finnish...
ABSTRACT We studied a family with severe primary osteoporosis carrying heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three affected individuals carried the mutation and presented nearly identical spinal fractures but lacked other typical features of either osteogenesis imperfecta or Ehlers-Danlos syndrome. Although mutations haploinsufficiency COL1A2 are rare, COL1A1 that lead less protein typically result milder phenotype. hypothesized genetic factors may...
Objective: Cardiac hypertrophy with varying degrees of myocardial fibrosis is commonly associated coronary artery disease (CAD) related sudden cardiac death (SCD), especially in young victims among whom patterns lesions do not entirely appear to explain the cause SCD. Our aim was study genetic background hypertrophy, or without fibrosis, ischemic SCD single vessel CAD. Methods: The population derived from Fingesture study, consisting all autopsy-verified SCDs Northern Finland between years...
Hypertrophic cardiomyopathy is a common cause of non-ischaemic sudden cardiac death (SCD). Left ventricular hypertrophy (LVH) without cardiomyopathy-related myocardial disarray autopsy finding and often associated with prior hypertension in SCD subjects. Our aim was to investigate novel rare gene variants among subjects presumably hypertension-related LVH fibrosis at autopsy.
<title>Abstract</title> Background Sepsis can lead to myocardial depression, playing a significant role in sepsis pathophysiology, clinical care, and outcome. To gain more insight into the pathophysiology of response sepsis, we investigated expression microRNA autopsy specimens critically ill deceased with non-septic controls. Materials methods In this retrospective observational study, obtained tissue samples collected during from adult patients (n = 15) for routine histological...