A5065659804- Cancer-related gene regulation
- Wnt/β-catenin signaling in development and cancer
- Genomics and Rare Diseases
- Poisoning and overdose treatments
- RNA Research and Splicing
- Pain Mechanisms and Treatments
- Proteoglycans and glycosaminoglycans research
- Genetics and Neurodevelopmental Disorders
- Gene expression and cancer classification
- Glycosylation and Glycoproteins Research
- Bioinformatics and Genomic Networks
- Alcoholism and Thiamine Deficiency
- Signaling Pathways in Disease
- Genetic Associations and Epidemiology
- Hedgehog Signaling Pathway Studies
- Cellular transport and secretion
- Neuroscience and Neuropharmacology Research
- Histone Deacetylase Inhibitors Research
- Neurobiology and Insect Physiology Research
- Epilepsy research and treatment
- Protease and Inhibitor Mechanisms
- RNA regulation and disease
- Congenital heart defects research
- Circadian rhythm and melatonin
- Glioma Diagnosis and Treatment
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
2020-2023
CeMM Research Center for Molecular Medicine
2020-2022
Austrian Academy of Sciences
2020-2022
Medical University of Vienna
2020-2022
Ludwig Boltzmann Institute for Digital Health and Prevention
2021
University of Zagreb
2009
Rare genetic diseases are typically caused by a single gene defect. Despite this clear causal relationship between genotype and phenotype, identifying the pathobiological mechanisms at various levels of biological organization remains practical conceptual challenge. Here, we introduce network approach for evaluating impact rare defects across scales. We construct multiplex consisting over 20 million relationships that organized into 46 layers spanning six major scales phenotype. A...
PR domain-containing member 12 (PRDM12) is a key developmental transcription factor in sensory neuronal specification and survival. Patients with rare deleterious variants PRDM12 are born congenital insensitivity to pain (CIP) due the complete absence of subtype peripheral neurons that detect pain. In this paper, we report two additional CIP cases novel homozygous variant. To elucidate function during mammalian development adulthood, generated temporal spatial conditional mouse models. We...
To determine the demographic and social characteristics of acutely intoxicated patients in emergency department (ED), intention drug/chemical intake, main toxic agents, outcomes time trends for all variables.This prospective, observational study included treated ED University Hospital Centre Sisters Charity, Zagreb, Croatia, during years 2001, 2010 2015. The diagnosis was derived from patient's self-report, clinical observations laboratory test results (quantitative serum ethanol levels...
Abstract Here, we report a novel case of male patient with hemizygous missense variant in STAG2 (p.Tyr159His) resulting Mullegama–Klein–Martinez syndrome (MKMS), rare X-linked cohesinopathy. He shares distinct clinical features previously reported carrying the p.Tyr159Cys, suggesting that this phenotype is determined by position mutation. Additionally, our exhibits symptoms not associated MKMS, expanding known disease.
Mesenchyme homeobox protein 2 (MEOX2) is a transcription factor involved in mesoderm differentiation, including development of bones, muscles, vasculature and dermatomes. We have previously identified dysregulation MEOX2 fibroblasts from Congenital Insensitivity to Pain patients, confirmed that btn, the Drosophila homologue MEOX2, plays role nocifensive responses noxious heat stimuli. To determine importance mammalian peripheral nervous system, we used Meox2 heterozygous (Meox2+/- ) mouse...
ABSTRACT The brain extracellular matrix (ECM) is enriched in chondroitin sulphate proteoglycans (CSPGs) with variable modifications that intimately participate maturation and function. Very little known about how the changing biophysical properties of CSPGs are signalled to neurons. Here, we report Fibrinogen C Domain Containing 1 (FIBCD1), a chitin-binding receptor innate immune system, be highly expressed hippocampus specifically bind containing 4-O modification (CS-4S). Cultured Fibcd1...
Review on AXIN1 (axin 1), with data DNA, the protein encoded, and where gene is implicated.