A5101843836- Genomics and Chromatin Dynamics
- Cardiovascular Effects of Exercise
- Genomics and Rare Diseases
- RNA Research and Splicing
- Sustainable Building Design and Assessment
- Cardiomyopathy and Myosin Studies
- Hepatitis C virus research
- Congenital heart defects research
- Molecular Biology Techniques and Applications
- Building Energy and Comfort Optimization
- Cancer-related gene regulation
- Epigenetics and DNA Methylation
- Liver Disease Diagnosis and Treatment
- Chromosomal and Genetic Variations
- Chronic Lymphocytic Leukemia Research
- Forensic and Genetic Research
- T-cell and Retrovirus Studies
- Architecture and Computational Design
- Genetic Associations and Epidemiology
- RNA Interference and Gene Delivery
- Cancer, Lipids, and Metabolism
- Cellular Mechanics and Interactions
- T-cell and B-cell Immunology
- Aerospace Engineering and Energy Systems
- Patient Safety and Medication Errors
University of Pittsburgh Medical Center
2025
Örebro University
2020-2024
Örebro University Hospital
2021-2023
Johnson University
2022
Rutgers, The State University of New Jersey
2022
Newcastle University
2022
Linköping University
2003-2021
Linköping University Hospital
2019
Roland Hill (United Kingdom)
2012-2013
University College London
2012-2013
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many cases remain unexplained. It been suggested that a proportion is caused by heart disease, mainly channelopathies. aim this study was to analyze DNA from 290 without chromosomal abnormalities for pathogenic single nucleotide variants (SNVs) 70 genes associated with cardiac channelopathies cardiomyopathies. HaloPlex Target Enrichment System (Agilent Technologies)...
Traumatic fingertip amputations are one of the most encountered injuries in emergency department requiring evaluation by a hand surgeon. Current management strategies vary widely. We describe use acellular urinary bladder matrix (UBM) complex distal involving bone, soft tissue, and nailbed. A prospective cohort 47 patients with proximal (36 Allen zone III 15 IV) underwent UBM application resultant regeneration. Patients received first operating room. Subsequent applications were reapplied...
In humans, eight types of histone H1 exist (H1.1–H1.5, H1°, H1t and H1oo), all consisting a highly conserved globular domain less N‐ C‐terminal tails. Although the precise functions these isoforms are not yet understood, subtypes have been found to be dispensable for mammalian development, it is now clear that specific may assigned certain individual subtypes. Moreover, microsequence variations within isoforms, such as polymorphisms or mutations, biological significance because high degree...
Abstract Background Histone H1 is an important constituent of chromatin, and involved in regulation its structure. During the cell cycle, chromatin becomes locally decondensed S phase, highly condensed during metaphase, again before re-entry into G 1 . This has been connected to increasing phosphorylation histones through cycle. However, many these experiments have performed using cell-synchronization techniques cycle-arresting drugs. In this study, we investigated subtype composition...
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified patients with Baraitser-Winter syndrome (BRWS) and also developmental disorders other than BRWS, such as deafness, dystonia, neutrophil dysfunction. We describe 2 novel de mutations, c.208C>G (p.Pro70Ala) c.511C>T (p.Leu171Phe), found by trio exome sequencing analysis unrelated patients: an 8-year-old boy a suspected BRWS 4-year-old girl unclear disorder. mutated...
Histone H1 is an important constituent of chromatin, which undergoes major structural rearrangements during mitosis. However, the role H1, multiple subtypes, and phosphorylation still unclear. In normal human fibroblasts, phosphorylated was found located in nuclei prophase both cytoplasm condensed chromosomes metaphase, anaphase, telophase as detected by immunocytochemistry. Moreover, we remarkable differences distribution histone subtypes H1.2, H1.3, H1.5 H1.2 chromatin almost solely...
Abstract Hypertrophic cardiomyopathy (HCM) is a primary autosomal‐dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, more severe phenotype generally seen. Here, we report case that was diagnosed clinically at 39 years age. Initial symptoms were shortness breath during exertion. Successively, he developed wide array clinical manifestations, which progressed to...
Pathogenic variants in the SMAD3 gene affecting TGF-β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys-Dietz syndrome 3, also known as aneurysms-osteoarthritis syndrome.Description of clinical history a family Sweden using data, DNA sequencing, bioinformatics, and pedigree analysis.We report novel variant, initially classified genetic variant uncertain significance (VUS), later found to be co-segregating dissection family. The index patient presented dissecting aneurysm...
We developed an efficient approach to diagnostic copy number analysis of targeted gene panel or whole exome sequence (WES) data. Here we present CNV-Z as a new tool for detection variants (CNVs). Deletions and duplications chromosomal regions are widely implicated in both genomic evolution genetic disorders. However, calling CNVs from data is challenging. In most cases, the region estimated depth reads mapping certain bin sliding window divided by expected derived set reference samples. This...
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in brain involved synaptic function. Mutations are associated with rare nonsyndromic form X-linked intellectual disability (XLID) have been described 11 families to date. All affected males presented disability, some showed additional clinical features. majority female carriers were reported asymptomatic or mildly affected, due skewed X-inactivation, rarely severely affected. We...
Histone H1 is a family of nucleosomal proteins that exist in number subtypes. These subtypes can be modified after translation various ways, above all by phosphorylation. Increasing levels phosphorylation has been correlated with cell cycle progression, while both and dephosphorylation histone have linked to the apoptotic process. Such conflicting results may depend on which apoptosis-inducing agents cause apoptosis via different pathways often interfere proliferation. Therefore, we...
Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where death cannot be determined with regular autopsy. We provide first study exome data from formalin-fixed paraffin-embedded samples (FFPE) paired high-quality blood forensic applications. The approach allows exploration potential use FFPE and identify variants extensive data. leverage high uniformity hybridization capture...
Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic that remain underdiagnosed undertreated, due in part to the cost of screening. The aim this study was design implement a whole gene targeted NGS panel for molecular diagnosis FH statin intolerance an emphasis on high quality variant calling, including copy number analysis. A hybridisation-based short read designed dominant FH-genes low density lipoprotein receptor ( sequencing resulted coverage...
Sudden cardiac death (SCD) is a tragic and traumatic event. SCD often associated with hereditary genetic disease in such cases, sequencing of stored formalin fixed paraffin embedded (FFPE) tissue crucial trying to find causal variant. This study was designed compare two massive parallel assays for differences sensitivity precision regarding variants related FFPE material. From eight cases where DNA from blood had been sequenced using HaloPlex, corresponding samples were collected six years...
Whether detailed genetic information contributes to risk stratification of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) remains uncertain. Pathogenic variants in some genes seem carry a higher for arrhythmia and earlier disease onset than others, but comparisons between the same gene have not been done. Combined Annotation Dependent Depletion (CADD) score is bioinformatics tool that measures pathogenicity each variant. We hypothesized CADD associated arrhythmic events...
Aims Psychiatric disorders are associated with fatigue and impairment to a range of cognitive domains, including executive functioning, learning, memory complex attention. Similar impairments seen in autonomic nervous system (ANS) dysfunction. The aetipathogenic significance this for psychiatric is unknown. main aim the cap-mem study was characterize relationships between ANS function sample none-clinical controls people mental health, neurodevelopmental neurodegenerative disorders....