Julia Pazmandi

Julia Pazmandi
Max Perutz Labs Vienna | MFPL · Department of Structural and Computational Biology

MS

About

19
Publications
4,330
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373
Citations
Additional affiliations
February 2017 - present
Ludiwg Boltzmann Institute for Rare and Undiagnosed Diseases
Position
  • PhD Student
October 2015 - present
June 2014 - June 2015
Imperial College London
Position
  • diploma student

Publications

Publications (19)
Article
Full-text available
Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early‐onset, monogenic fashion, often...
Article
Full-text available
Purpose Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels. Methods The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-functioning adrenal incidentaloma (NFAI). The ratio...
Conference Paper
Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA Glioblastoma multiforme (GBM) is the most common, and most aggressive, primary brain tumour in adults. Despite advances in surgical techniques and improvements in radiotherapy and chemotherapy protocols, the prognosis for patients with these tumors is extremely poor,...
Article
Zusammenfassung Bei der Abklärung chronischer Darmerkrankungen sollte in bestimmten Fällen auch an einen primären (=angeborenen) Immundefekt (PID) gedacht werden. PIDs sind selten, aber mindestens 10 % der Betroffenen entwickeln eine Darmentzündung. Patienten mit einer chronisch-entzündlichen Darmentzündung (CED) aufgrund eines PID haben oft extrai...
Article
Full-text available
BACKGROUND Accurate, detailed and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchica...
Article
Full-text available
Networks provide a powerful representation of interacting components within complex systems, making them ideal for visually and analytically exploring big data. However, the size and complexity of many networks render static visualizations on typically-sized paper or screens impractical, resulting in proverbial ‘hairballs’. Here, we introduce a Vir...
Article
Exocytosis of cytotoxic granules (CG) by lymphocytes is required for the elimination of infected and malignant cells. Impairments in this process underly a group of diseases with dramatic hyperferritinemic inflammation termed hemophagocytic lymphohistiocytosis (HLH). Although genetic and functional studies of HLH have identified proteins controllin...
Article
Full-text available
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions...
Article
Full-text available
Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by nature are considered complex diseases with partially genetic origin, as exemplified by their heterogeneous phenotypic and genetic presentation. Recent advances in genetic technologies have helped unco...
Preprint
BACKGROUND & AIMS: Genome-wide association studies (GWAS) have uncovered multiple loci associated with inflammatory bowel disease (IBD), yet delineating functional consequences is complex. We used a network-based approach to uncover traits common to monogenic and polygenic forms of IBD in order to reconstruct disease relevant pathways and prioritiz...
Article
Full-text available
The anaphylatoxin C5a is generated upon activation of the complement system, a crucial arm of innate immunity. C5a mediates proinflammatory actions via the C5a receptor C5aR1 and thereby promotes host defence, but also modulates tissue homeostasis. There is evidence that the C5a/C5aR1 axis is critically involved both in physiological bone turnover...
Article
Background Systems biology methods emerged as popular tools to investigate various types of diseases. However to date, there is a lack of knowledge with regards to their usefulness in rare, Mendelian diseases. In this project, we will use inflammatory bowel disease (IBD) to illustrate the utility of systems biology tools for rare diseases. Methods...

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