Search Results - "Skarp, Sini"
-
1
Extracellular matrix proteins produced by stromal cells in idiopathic pulmonary fibrosis and lung adenocarcinoma
Published in PloS one (27-04-2021)“…Idiopathic pulmonary fibrosis (IPF) and lung cancer share common risk factors, epigenetic and genetic alterations, the activation of similar signaling pathways…”
Get full text
Journal Article -
2
TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway
Published in PloS one (14-04-2017)“…Osteoarthritis (OA) is the most common degenerative joint disorder and genetic factors have been shown to have a significant role in its etiology. The first…”
Get full text
Journal Article -
3
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis
Published in PloS one (29-08-2018)“…Osteoarthritis (OA) is the most common degenerative joint disease and one of the major causes of disability worldwide. It is a multifactorial disorder with a…”
Get full text
Journal Article -
4
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Published in Frontiers in endocrinology (Lausanne) (10-07-2018)“…Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been…”
Get full text
Journal Article -
5
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis
Published in Frontiers in cardiovascular medicine (11-01-2022)“…Cardiac hypertrophy with varying degrees of myocardial fibrosis is commonly associated with coronary artery disease (CAD) related sudden cardiac death (SCD),…”
Get full text
Journal Article -
6
Abstract 13122: Exome Sequencing Reveals Novel Genetic Variants Predisposing to Sudden Cardiac Death Due to Primary Myocardial Fibrosis
Published in Circulation (New York, N.Y.) (08-11-2022)“…IntroductionSudden cardiac death (SCD) is one of the most common modes of death in Western countries. In post-mortem investigations, myocardial fibrosis is a…”
Get full text
Journal Article -
7
Apelin regulates skeletal muscle adaptation to exercise in a high-intensity interval training model
Published in American Journal of Physiology: Cell Physiology (01-05-2024)“…Plasma apelin levels are reduced in aging and muscle wasting conditions. We aimed to investigate the significance of apelin signaling in cardiac and skeletal…”
Get more information
Journal Article -
8
Whole‐exome sequencing suggests multiallelic inheritance for childhood‐onset Ménière's disease
Published in Annals of human genetics (01-11-2019)“…The genetic background of Ménière's disease (MD) was studied in one patient with childhood‐onset MD and his grandfather affected with middle age–onset MD…”
Get full text
Journal Article -
9
Intrauterine growth restriction and placental gene expression in severe preeclampsia, comparing early-onset and late-onset forms
Published in Journal of perinatal medicine (26-10-2017)“…To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Chorionic villus…”
Get more information
Journal Article -
10
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease
Published in Genes (01-06-2022)“…The objective was to study the genetic etiology of Ménière’s disease (MD) using next-generation sequencing in three families with three cases of MD. Whole…”
Get full text
Journal Article -
11
A Whole Exome Study Identifies Novel Candidate Genes for Vertebral Bone Marrow Signal Changes (Modic Changes)
Published in Spine (Philadelphia, Pa. 1976) (15-08-2017)“…STUDY DESIGN.A family-based study. OBJECTIVE.The aim of this study was to identify rare genetic factors predisposing to Modic changes (MCs). SUMMARY OF…”
Get full text
Journal Article -
12
Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes
Published in Journal of medical genetics (01-07-2019)“…Low back pain (LBP) is a common disabling condition. Lumbar disc degeneration (LDD) may be a contributing factor for LBP. Modic change (MC), a distinct…”
Get more information
Journal Article -
13
α-Melanocyte-stimulating hormone alleviates pathological cardiac remodeling via melanocortin 5 receptor
Published in EMBO reports (12-04-2024)“…α-Melanocyte-stimulating hormone (α-MSH) regulates diverse physiological functions by activating melanocortin receptors (MC-R). However, the role of α-MSH and…”
Get full text
Journal Article -
14
MiR-185-5p regulates the development of myocardial fibrosis
Published in Journal of molecular and cellular cardiology (01-04-2022)“…Cardiac fibrosis stiffens the ventricular wall, predisposes to cardiac arrhythmias and contributes to the development of heart failure. In the present study,…”
Get full text
Journal Article -
15
NRF3 Decreases during Melanoma Carcinogenesis and Is an Independent Prognostic Marker in Melanoma
Published in Oxidative medicine and cellular longevity (2022)“…The prognostic significance of the major redox regulator, nuclear factor erythroid-2-related factor 2 (NRF2), is recognized in many cancers, but the role of…”
Get full text
Journal Article -
16
Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims
Published in Journal of cardiovascular translational research (07-06-2024)“…Myocardial fibrosis is a common finding in victims of sudden cardiac death (SCD). Whole exome sequencing was performed in 127 victims of SCD with primary…”
Get full text
Journal Article -
17
A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients
Published in Experimental and therapeutic medicine (01-08-2020)“…The understanding of the biological and environmental risk factors of fractures in pediatrics is limited. Previous studies have reported that fractures involve…”
Get full text
Journal Article -
18
The interplay of matrix metalloproteinase-8, transforming growth factor-β1 and vascular endothelial growth factor-C cooperatively contributes to the aggressiveness of oral tongue squamous cell carcinoma
Published in British journal of cancer (26-09-2017)“…Background: Matrix metalloproteinase-8 (MMP-8) has oncosuppressive properties in various cancers. We attempted to assess MMP-8 function in oral tongue squamous…”
Get full text
Journal Article -
19
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion
Published in Journal of bone and mineral research (01-12-2020)“…ABSTRACT We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three…”
Get full text
Journal Article -
20
NRF1 and NRF2 mRNA and Protein Expression Decrease Early during Melanoma Carcinogenesis: An Insight into Survival and MicroRNAs
Published in Oxidative medicine and cellular longevity (2019)“…The prognostic significance of the major redox regulator nuclear factor erythroid-2-related factor (NRF2) is recognized in many cancers, but the role of NRF1…”
Get full text
Journal Article