A5078105671- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Tissue Engineering and Regenerative Medicine
- Transplantation: Methods and Outcomes
- Renal Transplantation Outcomes and Treatments
- Sarcoma Diagnosis and Treatment
- Bone Tumor Diagnosis and Treatments
- Pluripotent Stem Cells Research
- Molecular Biology Techniques and Applications
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Cardiac Fibrosis and Remodeling
- Salivary Gland Tumors Diagnosis and Treatment
- Kruppel-like factors research
- Neuroscience and Neural Engineering
- Mesenchymal stem cell research
- Ear and Head Tumors
- 3D Printing in Biomedical Research
- Osteoarthritis Treatment and Mechanisms
- Chronic Lymphocytic Leukemia Research
- NF-κB Signaling Pathways
- Chronic Myeloid Leukemia Treatments
- Lymphoma Diagnosis and Treatment
Sahlgrenska University Hospital
2015-2024
University of Gothenburg
2015-2024
Institute for Biomedicine
2024
Center for Clinical Research Dalarna
2023
Uppsala University
2023
Stellenbosch University
2023
Swedish Academy
2023
Ljubljana University Medical Centre
2021
Institute for Transfusion Medicine
2012
Karolinska Institutet
2004
Pleomorphic salivary gland adenomas are characterized by recurrent chromosome rearrangements of 8q12, leading to activation the PLAG1 oncogene. Here we demonstrate that CHCHD7-PLAG1 is a novel and gene fusion generated cytogenetically cryptic rearrangement in pleomorphic adenomas. CHCHD7 newly identified member multifamily proteins containing conserved (coiled coil 1)-(helix 1)-(coiled 2)-(helix 2) domain. Northern blot analysis revealed ubiquitously expressed. Its biological function...
Abstract Mesenchymal stem cells (MSCs) are a candidate for replacing chondrocytes in cell‐based repair of cartilage lesions. However, it has not been clarified if these can acquire the hyaline phenotype, and whether MSCs show same expression patterns critical control genes development. In order to study this, articular iliac crest derived were allowed differentiate pellet mass cultures. Gene markers helix‐loop‐helix (HLH) transcription factors, chondrogenic factors analyzed by real‐time PCR....
Germline mutations in the Exostoses-1 gene (EXT1) are found hereditary multiple exostoses syndrome, which is characterized by formation of osteochondromas and an increased risk chondrosarcomas osteosarcomas. However, despite its putative tumor-suppressor function, little known contribution EXT1 to human sporadic malignancies. Here, we report that function abrogated cancer cells transcriptional silencing associated with CpG island promoter hypermethylation. We also show that, at biochemical...
Cell-cycle regulation depends on a fine balance between cyclin-cyclin-dependent kinase complexes and family of inhibitors that bind cyclin-cdk block their activity. To investigate the role mechanisms regulating cell-cycle progression in human osteosarcomas (OS), pRb/p16/cdk4 expression was analyzed 39 high-grade OS; 19 these developed metastasis during follow-up. Positive reaction for functional pRB shown by 18/39 (46%) OS, while 21/39 (54%) were negative. A higher probability seen patients...
The role of two important tumour suppressor genes, p16 and p53, was evaluated in cartilaginous tissues. Genomic DNA from 22 chondrosarcomas, 5 benign chondroid tumours, 1 sample reactive proliferative cartilage 2 samples normal were analysed using polymerase chain reaction, single strand conformational polymorphism, sequencing methylation-specific reaction. gene found to be partly methylated high-grade chondrosarcomas homozygously deleted chondrosarcoma. Moreover, a polymorphism detected 3...
Studies of expressed genes in human heart provide insight into both physiological and pathophysiological mechanisms. This is importance for extended understanding cardiac function as well development new therapeutic drugs. Heart tissue gene expression studies generally hard to obtain, particularly from the ventricles. Since different parts have functions, profiles should likely differ between these parts. The aim study was therefore compare global more accessible auricula right atrium left...
Abstract Acute myeloid leukemia (AML) results from aberrant hematopoietic processes and these changes are frequently initiated by chromosomal translocations. One particular subtype, AML with translocation t(7;12)(q36;p13), is found in children diagnosed before 2 years of age. The mechanisms for leukemogenesis induced t(7;12) not understood, part because the lack efficient methods to reconstruct leukemia‐associated genetic aberration correct genomic architecture regulatory elements. We...
BACKGROUND The INK4A tumor suppressor gene plays a crucial role in the regulation of G1 cell cycle phase. It encodes two transcripts, p16 and p14 alternate reading frame (ARF), involved retinoblastoma protein (pRb)- p53- growth control pathways, respectively. METHODS To define status molecule expression regulatory system, immunohistochemistry, immunoblotting, polymerase chain reaction (PCR) analysis were performed on 35 primary high grade osteosarcomas (OS). RESULTS Although p14ARF proteins...
Abstract Introduction Reverse transcriptase quantitative PCR (RT‐qPCR) is considered the method of choice for measurable residual disease (MRD) assessment in NPM1 ‐mutated acute myeloid leukemia (AML). MRD can also be determined with DNA‐based methods offering certain advantages. We here compared (qPCR), droplet digital (ddPCR), and targeted deep sequencing (deep seq) RT‐qPCR. Methods Of 110 follow‐up samples from 30 patients AML were analyzed by qPCR, ddPCR, seq, To select DNA cutoffs bone...
In this prospective study we investigated a cohort after heart transplantation with novel PCR-based approach focus on treated rejection. Blood samples were collected coincidentally to biopsies, and both absolute levels of dd-cfDNA donor fraction reported using digital PCR. 52 patients (11 children 41 adults) enrolled (NCT03477383, clinicaltrials.gov ), 557 plasma analyzed. 13 rejection episodes >14 days observed in 7 patients. Donor showed median 0.08% the was significantly elevated...
Cardiotoxicity testing is a key activity in the pharmaceutical industry order to detect detrimental effects of new drugs. A reliable human vitro model would both be beneficial selection lead compounds and important for reducing animal experimentation. However, heart complex organ composed many distinct types cardiomyocytes, but cardiomyocyte clusters (CMCs) derived from embryonic stem cells could an option cellular model. Data on functional properties CMCs demonstrate similarities their vivo...
The expression and localization of the helix‐loop‐helix transcription factors Id1 Id3, as well E12‐protein, were studied in cells isolated from human articular cartilage chondrosarcoma. Serum withdrawal down‐regulated Id3 chondrocytes but not chondrosarcoma cells. Antisense oligonucleotides directed against decreased BrdU labeling both cell types. E12 was localized to nucleus non‐confluent tumor confluent cells, had a cytoplasmic localization. This study suggests functional role for control...
Abstract The Gl regulatory pathway involving p16, pRb and cdk4 in the cell cycle has been investigated human chondrosarcoma. protein expression of was analyzed by Western blot cultured cells from eight chondrosarcomas two chondrosarcoma lines. Both lines one other sample were negative for p16. Moreover, pRb‐negative showed a high as well. In line three samples expected size detected addition to shorter form protein. To further investigate reasons down‐regulation p16 protein, p16‐coding gene...
Mutations in NPM1 can be used for minimal residual disease (MRD) analysis acute myeloid leukemia (AML). We here applied a newly introduced method, deep sequencing, allowing simultaneous of all recurrent insertions and thus constituting an attractive alternative to multiple PCRs the clinical laboratory. retrospectively sequencing measurement MRD pre- post-allogeneic hematopoietic stem cell transplantation (alloHCT). For 29 patients morphological remission at time alloHCT, effect on outcome...