Julia Koller

• Semmelweis University

Background De novo mutations (DNMs) have been implicated in the etiology of schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction, and decreased community functioning. Several DNMs have been identified by examining SZ cases and their unaffected parents; however, in most cas...

Background: De novo mutations (DNMs) have been implicated in the etiology of schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction and decreased community functioning. Several DNMs have been identified by examining SZ cases and their unaffected parents, however in most case...

State-of-the-art approaches for the prediction of drug–target interactions (DTI) are based on various techniques, such as matrix factorisation, restricted Boltzmann machines, network-based inference and bipartite local models (BLM). In this paper, we propose the framework of Asymmetric Loss Models (ALM) which is more consistent with the underlying...

ChIP-seq reveals genomic regions where proteins, e.g. transcription factors (TFs) interact with DNA. A substantial fraction of these regions, however, do not contain the cognate binding site for the TF of interest. This phenomenon might be explained by protein-protein interactions and co-precipitation of interacting gene regulatory elements. We uni...

Background: De novo mutations (DNMs) have been implicated in the etiology of schizophrenia, a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction and poor community functioning. Several DNMs have been shown by examining schizophrenia cases and their unaffected parents, however in most cases th...

Background: De novo mutations (DNMs) have been implicated in the etiology of schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction and decreased community functioning. Several DNMs have been identified by examining SZ cases and their unaffected parents, however in most case...

ChIP-Seq reveals genomic regions where proteins, e.g. transcription factors (TFs) interact with DNA. A substantial fraction of these regions, however, do not contain the cognate binding site for the TF of interest. This phenomenon might be explained by protein-protein interactions and co-precipitation of interacting gene regulatory elements. We uni...

Background and objective: In silico prediction of drug-target interactions (DTI) could provide valuable information and speed-up the process of drug repositioning - finding novel usage for existing drugs. In our work, we focus on machine learning algorithms supporting drug-centric repositioning approach, which aims to find novel usage for existing...

Background and purpose: Schizophrenia is a severe psychiatric disorder of poorly understood etiology, characterized by high heritability, multifactorial inheritance and high heterogeneity. Multilocus associaton methods may reduce the genetic heterogeneity and improve the probability of replication between analyses. The aims of our study were twofo...

Background: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for th...

Classification of electroencephalograph (EEG) data is the common denominator in various recognition tasks related to EEG signals. Automated recognition systems are especially useful in cases when continuous, long-term EEG is recorded and the resulting data, due to its huge amount, cannot be analyzed by human experts in depth. EEG-related recognitio...

Classification of electroencephalograph (EEG) signals is the common denominator in EEG-based recognition systems that are relevant to many applications ranging from medical diagnosis to EEGcontrolled devices such as web browsers or typing tools for paralyzed patients. Here, we propose a new method for the classification of EEG signals. One of its c...

The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia. Clinical and genetic evidence suggest that FLCN acts as a tumor suppressor gene. The human cell line UOK257, derived from the renal...

The Birt-Hogg-Dube (BHD) autosomal dominantly inherited syndrome has clinical features that include the development of skin fibrofolliculomas, lung cysts, and renal neoplasia. Renal tumors occur in approximately one third of individuals with BHD. The gene responsible for BHD syndrome is Folliculin (FLCN), which encodes a 68kD phosphoprotein (FLCN)....

Histone deacetylase inhibitors are promising anti-tumor agents partly due to their ability to disrupt the hypoxic signaling pathway in human malignancies. However, little is known about any effects of these drugs on the central nervous system. The aim of the present study was to analyze the effects of trichostatin A (TSA)--a broad-spectrum histone...

In clinical practice, electrocardiographs (ECG)are used in various ways. In the most simple case, directly after the ECG has been recorded, the doctor analyses it and makes the diagnosis. In other cases, e.g. when the abnormality can only be observed occasionally, at a previously unknown time, the ECG is being recorded continuously. Fast automatic...