Sini Skarp
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View article: Postmortem analyses of myocardial microRNA expression in sepsis
Postmortem analyses of myocardial microRNA expression in sepsis Open
View article: Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims
Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims Open
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 myocardial fibrosis as the only pathological finding. These cases are derived from th…
View article: Postmortem analyses of myocardial microRNA expression in sepsis
Postmortem analyses of myocardial microRNA expression in sepsis Open
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 the myocardial response in sepsis, we investigated the …
View article: α-Melanocyte-stimulating hormone alleviates pathological cardiac remodeling via melanocortin 5 receptor
α-Melanocyte-stimulating hormone alleviates pathological cardiac remodeling via melanocortin 5 receptor Open
View article: α-Melanocyte-Stimulating Hormone Regulates Pathological Cardiac Remodeling by Activating Melanocortin 5 Receptor in Cardiomyocytes
α-Melanocyte-Stimulating Hormone Regulates Pathological Cardiac Remodeling by Activating Melanocortin 5 Receptor in Cardiomyocytes Open
Background α-Melanocyte-stimulating hormone (α-MSH) regulates diverse physiological functions by activating melanocortin receptors (MC-R). α-MSH is predominantly expressed in the pituitary gland, but it is also found in several peripheral …
View article: The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions Open
View article: New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease Open
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 exome sequencing was used to identify rare genetic variants co-segregating with MD i…
View article: Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis Open
Objective: Cardiac hypertrophy with varying degrees of myocardial fibrosis is commonly associated with coronary artery disease (CAD) related sudden cardiac death (SCD), especially in young victims among whom patterns of coronary artery les…
View article: NRF3 Decreases during Melanoma Carcinogenesis and Is an Independent Prognostic Marker in Melanoma
NRF3 Decreases during Melanoma Carcinogenesis and Is an Independent Prognostic Marker in Melanoma Open
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 NRF3 is not studied. Analysis from the Gene Expression Omnibus datasets showed tha…
View article: MiR-185-5p regulates the development of myocardial fibrosis
MiR-185-5p regulates the development of myocardial fibrosis Open
View article: Extracellular matrix proteins produced by stromal cells in idiopathic pulmonary fibrosis and lung adenocarcinoma
Extracellular matrix proteins produced by stromal cells in idiopathic pulmonary fibrosis and lung adenocarcinoma Open
Idiopathic pulmonary fibrosis (IPF) and lung cancer share common risk factors, epigenetic and genetic alterations, the activation of similar signaling pathways and poor survival. The aim of this study was to examine the gene expression pro…
View article: Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion Open
We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three affected individuals carried the mutation and presented nearly identical spinal fractures …
View article: A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients
A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients Open
The understanding of the biological and environmental risk factors of fractures in pediatrics is limited. Previous studies have reported that fractures involve heritable traits, but the genetic factors contributing to the risk of fractures…
View article: Prognostic significance of Twist, ZEB1 and Slug in peripheral T-cell lymphomas
Prognostic significance of Twist, ZEB1 and Slug in peripheral T-cell lymphomas Open
ABSTRACT Objectives: To investigate the protein expression of the epithelial-mesenchymal transition-inducing transcription factors (TFs) Twist, ZEB1 and Slug in peripheral T-cell lymphomas (PTCL) and their correlation with cl…
View article: NRF1 and NRF2 mRNA and Protein Expression Decrease Early during Melanoma Carcinogenesis: An Insight into Survival and MicroRNAs
NRF1 and NRF2 mRNA and Protein Expression Decrease Early during Melanoma Carcinogenesis: An Insight into Survival and MicroRNAs Open
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 is not generally well understood in cancer. Our aim was to investigate these redo…
View article: Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes
Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes Open
Background 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 phenotype of LDD, is presented as a pathological bone marrow signal change a…
View article: Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions
Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions Open
Endometriosis is a common complex inflammatory condition characterised by the presence of endometrium-like tissue outside the uterus, mainly in the pelvic area. It is associated with chronic pelvic pain and infertility, and its pathogenesi…
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis Open
View article: Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility Open
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 sea…
View article: 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
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 Open
The suppressive effects of MMP-8 in OTSCC may be mediated through interference of TGF-β1 and VEGF-C function and altered proteinase expression. Together, low MMP-8 and high VEGF-C expression have strong independent prognostic value in OTSC…
View article: TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway
TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway Open
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 metatarsophalangeal joint (MTP I) is highly susceptible to development of OA due t…
View article: Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis
Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis Open
A potentially novel functional OA susceptibility variant was identified by targeted re-sequencing. This variant locates in a predicted regulatory site and creates a recognition sequence for ELF3 and HMGA1 transcription factors that are pre…