A5028107799- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Bipolar Disorder and Treatment
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Neurological diseases and metabolism
- Glioma Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
- Genetics and Neurodevelopmental Disorders
- Cancer Cells and Metastasis
- Genomics and Phylogenetic Studies
- Renal Diseases and Glomerulopathies
- Genomic variations and chromosomal abnormalities
- Cerebrovascular and genetic disorders
- Mitochondrial Function and Pathology
- Genetic and phenotypic traits in livestock
- Neurofibromatosis and Schwannoma Cases
- Machine Learning in Bioinformatics
- Retinal Development and Disorders
- Bioinformatics and Genomic Networks
- Ocular Oncology and Treatments
- ATP Synthase and ATPases Research
- Inflammasome and immune disorders
- Cholesterol and Lipid Metabolism
University of Gothenburg
2014-2025
Lund University
2021
Skåne University Hospital
2021
University of Helsinki
2021
Helsinki University Hospital
2021
The Swedish Hip Arthroplasty Register
2018
Sahlgrenska University Hospital
2014-2018
Wallenberg Wood Science Center
2018
Swedish University of Agricultural Sciences
2010-2016
Uppsala University
2009
Hereditary periodic fever syndromes are characterized by recurrent episodes of and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group diseases, but the majority cases remain unexplained. A similar syndrome is relatively frequent Chinese Shar-Pei breed dogs. western world, strongly selected for a distinctive thick heavily folded skin. study, mutation affecting both these traits was identified. Using genome-wide SNP analysis...
The domestic dog, Canis familiaris, exhibits profound phenotypic diversity and is an ideal model organism for the genetic dissection of simple complex traits. However, some most interesting phenotypes are fixed in particular breeds therefore less tractable to analysis using classical segregation-based mapping approaches. We implemented across breed approach a moderately dense SNP array, low number animals carefully selected interest identify variants responsible breed-defining...
// Berglind O. Einarsdottir 1,4 , Roger Olofsson Bagge Joydeep Bhadury Henrik Jespersen 2,4 Jan Mattsson Lisa M. Nilsson Katarina Truvé 5 Marcela Dávila López 4,5 Peter Naredi Ola 3,4 Ulrika Stierner Lars Ny and Jonas A. 1 Department of Surgery, Institute Clinical Sciences, Sahlgrenska Academy at the University Gothenburg, Hospital, Sweden 2 Oncology, 3 Biomedicine, 4 Translational Melanoma Group Cancer Center, The Bioinformatics Core Facility Correspondence: Nilsson, email: Keywords :...
Gliomas are the most common form of malignant primary brain tumors in humans and second dogs, occurring with similar frequencies both species. Dogs valuable spontaneous models human complex diseases including cancers may provide insight into disease susceptibility oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog Boston Terrier have an elevated risk developing glioma, but others, Pug Pekingese, not at higher risk. To identify glioma-associated genetic factors, across-breed...
Abstract Background coeliac disease (CD) is an inflammatory condition of the small intestine caused by immunological intolerance towards dietary gluten. Associations between CD and other autoimmune disorders have been extensively reported. However, risk in patients developing immune-mediated renal diseases (IMRDs) as a function duration exposure to gluten remains uncharacterized. Methods we used data from Swedish national patient register retrospectively construct two subcohorts either years...
Progressive retinal atrophy (PRA) in dogs, the canine equivalent of retinitis pigmentosa (RP) humans, is characterised by vision loss due to degeneration photoreceptor cells retina, eventually leading complete blindness. It affects more than 100 dog breeds, and caused numerous mutations. RP 1 4000 people Western world 70% causal mutations remain unknown. Canine diseases are natural models for study human becoming increasingly useful development therapies humans. One variant, prcd-PRA, only...
Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident families. With the use a comprehensive stroke-gene panel, we searched variants stroke-related genes. The probands' clinical subtype was related characteristics previously associated with pathogenic...
Abstract Neuro-inflammation and neuronal communication are considered as mis-regulated processes in the aetiology pathology of bipolar disorder (BD). Which when specific signal pathways become abnormal during ontogeny patients is unknown. To address this question, we applied induced pluripotent stem cell (iPSC) technology followed by cortical neural differentiation on adipocyte-derived cells from BD type I (with psychotic episodes psychiatric history) healthy volunteers (controls). RNA...
Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. A recurrent feature of PA deregulation mitogen activated protein kinase (MAPK) pathway often through KIAA1549-BRAF fusion, but also by other BRAF- or RAF1-gene fusions and point mutations (e.g. BRAFV600E). These features may serve as diagnostic prognostic markers, facilitate development targeted therapy. The aims this study were to characterize genetic alterations underlying in six tumor cases, evaluate methods for fusion...
Abstract Identification of causative genetic variants leading to the development bipolar disorder (BD) could result in tests that would facilitate diagnosis. A better understanding affected genes and pathways is also necessary for targeting may improve treatment strategies. To date several susceptibility have been reported from genome-wide association studies (GWAS), but little known about specific affect disease development. Here, we performed quantitative proteomics whole-genome sequencing...
<i>Background:</i> Global gene expression patterns have recently been characterized in normal glomeruli, but changes that accompany glomerular disease remain poorly characterized. <i>Method:</i> Here, we mapped global profile occurring conjunction with lipopolysaccharide (LPS)-induced proteinuria mice. <i>Results:</i> We observed dramatic transcriptional reprogramming glomeruli response to LPS, representing some 20% of all genes and about 45% the are...
We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1lp.S78G mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cybp.D254N), affecting CIII subunit cytochrome b (MT-CYB), background with short survival. utilize maternal inheritance to confirm this as causative and show that it further decreases low activity tissues below threshold by 35 days...
Abstract The ALK tyrosine kinase receptor is oncogenically activated in neuroblastoma. Whereas numerous fusion genes have been reported different malignancies, neuroblastoma mainly through point mutations. Three hotspot residues (F1174, F1245, and R1275) account for 85% of mutant seen In a cohort 105 Swedish cases all stages, these regions were re-sequenced (>5000X). mutations detected 16 patients (range variant allele fraction: 2.7–60%). Mutations at the F1174 F1245 observed eleven three...
// Toshima Z. Parris 1 , Elisabeth Werner Rönnerman 1, 2 Hanna Engqvist Jana Biermann Katarina Truvé 3 Szilárd Nemes 4 Eva Forssell-Aronsson 5 Giovanni Solinas 6 Anikó Kovács Per Karlsson * and Khalil Helou Department of Oncology, Institute Clinical Sciences, Sahlgrenska Cancer Center, Academy at University Gothenburg, Sweden Hospital, Pathology Genetics, Bioinformatics Core Facility, Swedish Hip Arthroplasty Register, Radiation Physics, The Wallenberg...
To describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke.We studied Swedish kindred with ischemic stroke intracerebral hemorrhage, tremor, dysautonomia, mild cognitive decline. Members were examined clinically, radiologically, by histopathology. Genetic workup included whole-exome sequencing (WES) whole-genome (WGS) intrafamilial cosegregation analyses.Fifteen family members clinically. Twelve affected individuals had white matter hyperintensities 1...
Next Generation Sequencing (NGS) technologies promise a revolution in genetic research. Generating enormous amounts of data, they bring both new opportunities and challenges to researchers. SEQscoring was designed facilitate analysis enable extraction the most essential information from data produced NGS resequencing projects. Its main functionality is help researchers locate likely causative mutations for specific trait or disease, but it can advantageously be used whenever goal compare...
Abstract The development of novel therapies against melanoma would benefit from individualized tumor models to ensure the rapid and accurate identification biomarkers therapy response. Previous studies have suggested that patient-derived xenografts (PDXes) could be used in biomarker response discovery. However, clinical utility PDXes guiding real-time treatment decisions only been reported anecdotal forms. In present study we aimed develop a platform (PDXes), assess whether responses mice...