A5057691882- Neurofibromatosis and Schwannoma Cases
- Soft tissue tumor case studies
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Skin and Cellular Biology Research
- Bone Tumor Diagnosis and Treatments
- Immunotherapy and Immune Responses
- Hedgehog Signaling Pathway Studies
- Vascular Malformations Diagnosis and Treatment
- Genetic and rare skin diseases.
- Barrier Structure and Function Studies
- Genetic Associations and Epidemiology
- Sarcoma Diagnosis and Treatment
- Cancer and Skin Lesions
- Complement system in diseases
- Wnt/β-catenin signaling in development and cancer
- Soft tissue tumors and treatment
- Connexins and lens biology
- Cancer-related molecular mechanisms research
- Cell Adhesion Molecules Research
- Hereditary Neurological Disorders
- Vascular Malformations and Hemangiomas
- Autoimmune Bullous Skin Diseases
- Parkinson's Disease Mechanisms and Treatments
- Cellular transport and secretion
Turku University Hospital
2016-2025
University of Turku
2016-2025
University of Gothenburg
2020-2025
Sahlgrenska University Hospital
2020-2025
Region Västra Götaland
2020-2025
University of Helsinki
2020-2025
Helsinki University Hospital
2023-2025
Varsinais-Suomen Sairaanhoitopiiri
2019-2025
Hospital District of Helsinki and Uusimaa
2022-2024
Institute for Molecular Medicine Finland
2020
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Purpose The current study was designed to determine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by type, age, and sex unprecedented accuracy be achieved combining two total population–based registers. Patients Methods A population-based series NF1 (N = 1,404; 19,076 person-years) linked incident cancers recorded Finnish Cancer Registry deaths national Population Register Centre between 1987 2012. Standardized incidence ratios (SIRs) standardized mortality (SMRs) were...
The incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates prevalence vary greatly. This retrospective total-population study was aimed at determining NF1 in Finland.All secondary and tertiary referral centers Finland were searched for patients. Patient records manually reviewed patients fulfilling National Institutes Health diagnostic criteria included. Prevalence on 31 December 2005 determined. Data survival combined to refine estimation.A total 1,279...
We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented age diagnosis ranging from 18 51 years and pattern suggesting autosomal dominant inheritance. sequenced the exomes four affected performed follow-up genotyping additional unaffected members. uncovered novel nonsynonymous variant (p.Trp314Arg) Wolfram syndrome 1 (WFS1) gene that segregates completely diabetic...
The aim of the study was to characterize molecular relationship between ameloblastoma and keratocystic odontogenic tumor (KCOT) by means a genome-wide expression analysis. Total RNA from 27 fresh samples 15 solid/multicystic intraosseous ameloblastomas 12 sporadic KCOTs hybridized on Affymetrix whole genome arrays. Hierarchical clustering separated into 2 distinct groups. gene set enrichment analysis based 303 dental genes showed similar separation KCOTs. Early epithelial markers PITX2,...
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk breast, thyroid, renal cancer, and possibly endometrial colorectal cancer melanoma. There no international consensus on surveillance in PHTS all current guidelines are based expert opinion. A comprehensive literature review was undertaken were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology,...
The serum concentration of cystatin C has recently been proposed as a better indicator glomerular filtration rate (GFR) than plasma creatinine. Little is known about in critical illness. We assessed marker renal function acute failure (ARF) and its power predicting survival ARF patients.202 consecutive adult patients admitted into the intensive care unit (ICU) during period 9 months.Serum C, creatinine urea were measured on admission, daily first 3 days, 5-7 times week rest ICU stay. with...
An efficient expression system for recombinant collagens would have numerous scientific and practical applications. Nevertheless, most systems are not suitable this purpose, as they do sufficient amounts of prolyl 4-hydroxylase activity. Pro-α1 chains human type III collagen expressed in insect cells by a baculovirus vector reported here to contain significant 4-hydroxyproline form triple-helical molecules, although the Tm triple helices was only about 32-34°C. Coexpression pro-α1(III) with...
An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the survival, we aimed to link histopathology clinical characteristics of NF1-associated cancers.The Finnish Cancer Registry NF were cross-referenced identify NF1 patients cancer. Archival specimens retrieved histopathological typing compared matched controls.A total 32 cancers diagnosed in 1404 during follow-up. Women had an estimated lifetime risk 18.0% cancer,...
// Mehdi Farshchian 1, 2 , Liisa Nissinen Elina Siljamäki Pilvi Riihilä Minna Piipponen Atte Kivisaari Markku Kallajoki 3 Reidar Grénman 4 Juha Peltonen 5 Sirkku 1 Koen D. Quint 6, 7 Jan Nico Bouwes Bavinck 6 and Veli-Matti Kähäri Department of Dermatology, University Turku Hospital, Turku, Finland MediCity Research Laboratory, Pathology, Otorhinolaryngology - Head Neck Surgery, Cell Biology Anatomy, Leiden Medical Center, Leiden, The Netherlands DDL Diagnostic Rijswijk, Correspondence to:...
Keratinocyte-derived cutaneous squamous cell carcinoma (cSCC) is the most common metastatic skin cancer, and its incidence increasing globally. Long noncoding RNAs (lncRNA) are involved in various biological processes, their role cancer progression emerging. Whole transcriptome analysis of cSCC cells (n = 8) normal human epidermal keratinocytes 4) revealed overexpression long intergenic ncRNA (LINC00162) cells. The expression LINC00162 was upregulated by inhibition p38α p38δ...
The incidence of epidermal keratinocyte‐derived cutaneous squamous cell carcinoma (cSCC) is increasing worldwide. To study the role complement classical pathway components C1q, C1r and C1s in progression cSCC. mRNA levels C1Q subunits C1R C1S cSCC lines, normal human keratinocytes, tumours vivo skin were analysed with quantitative real‐time polymerase chain reaction. production was determined Western blotting. expression tissue samples immunohistochemistry further investigated xenografts by...
Cells of the granular layer are interconnected by tight junctions (TJs) in normal epidermis. The structural proteins epidermal TJs include occludin, ZO-1, and claudin-1 -4.Our aim was to correlate expression TJ components with keratinocyte differentiation using psoriasis as a model premature keratinization.The distribution evaluated skin nine patients psoriasis. Punch biopsies were taken from perilesional skin, active plaques, healed, previously lesional locations. punch analysed indirect...