A5006245646- Skin and Cellular Biology Research
- Dermatological and Skeletal Disorders
- Sports injuries and prevention
- Wnt/β-catenin signaling in development and cancer
- Autoimmune Bullous Skin Diseases
- Skin Protection and Aging
- Genetic and rare skin diseases.
- Genetics and Physical Performance
- Skin Diseases and Diabetes
- Vascular Tumors and Angiosarcomas
- Nail Diseases and Treatments
- Tendon Structure and Treatment
- Cardiomyopathy and Myosin Studies
- Connexins and lens biology
- Cutaneous lymphoproliferative disorders research
- Acute Lymphoblastic Leukemia research
- Lymphoma Diagnosis and Treatment
- Muscle and Compartmental Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- CNS Lymphoma Diagnosis and Treatment
- Dermatological and COVID-19 studies
- Cardiovascular Effects of Exercise
University of Helsinki
2018-2023
Helsinki University Hospital
2018-2023
Oulu University Hospital
2015
Primary central nervous system lymphoma (PCNSL) is a rare brain tumour with dismal prognosis. Several phase II studies high-dose methotrexate-based regimens have shown promising early results, but in all hospital-based data published so far, the disease outcome poor.We performed retrospective analysis to evaluate long-term results of Nordic type Bonn chemotherapy regimen PCNSL patients. The study included 54 patients newly diagnosed who received curative intent as their first-line...
To the Editor: Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive PPK caused by mutations in serpin family B member 7 (SERPINB7) gene.1Kubo A. Shiohama Sasaki T. et al.Mutations SERPINB7, encoding a of serine protease inhibitor superfamily, cause keratosis.Am J Hum Genet. 2013; 93: 945-956Abstract Full Text PDF PubMed Scopus (74) Google Scholar It has been reported only Japanese, Chinese, and Korean populations, with common founder mutation c.796C>T p.(Arg266∗).1Kubo...
Abstract Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis the palms and soles, occasional additional manifestations in other tissues. Mutations at least 69 genes have been implicated PPK, but further novel candidate mutations are still to be found. Objectives To identify underlying PPK cohort 64 patients. Methods DNA 48 patients was analysed on custom‐designed in‐house panel for 35 genes, 16 were...
Hereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent hyperkeratosis. Loss-of-function variants in serine peptidase inhibitor, SERPINA12, have recently been implicated autosomal recessive diffuse hPPK. The disorder appears to share similarities with another hPPK associated protease overactivity, namely Nagashima-type PPK (NPPK) caused biallelic SERPINB7.
Background Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated curly or wavy hair, palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated cardiomyopathy might be confused clinical work myocarditis other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help differential diagnosis. Methods results This study comprised 49 Finnish patients: 34 participants...
PPKs represent a heterogeneous group of disorders with hyperkeratosis palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP). PPK should trigger genetic testing to reveal possible related cardiac disease.To report large multigenerational family novel DSP mutation associated early-onset adult-onset arrhythmias.A custom-designed in-house panel 35 genes was used screen the index patient...