A5028733035- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Cellular transport and secretion
- Cancer-related gene regulation
- Prenatal Screening and Diagnostics
- Lysosomal Storage Disorders Research
- Pharmacological Effects and Toxicity Studies
- Congenital heart defects research
- Pregnancy and Medication Impact
- Thyroid Disorders and Treatments
- Endoplasmic Reticulum Stress and Disease
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- ATP Synthase and ATPases Research
- Hormonal Regulation and Hypertension
- Fetal and Pediatric Neurological Disorders
- Ion channel regulation and function
- Trypanosoma species research and implications
- Parvovirus B19 Infection Studies
- Cardiovascular Function and Risk Factors
- Pregnancy and preeclampsia studies
- Mitochondrial Function and Pathology
- Cardiac electrophysiology and arrhythmias
- Fibroblast Growth Factor Research
- Criminal Law and Evidence
Medical University of Graz
2015-2023
University of Graz
2023
Background Mucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to known MPS subtypes (I–IX). Arylsulfatase K (ARSK) is a recently characterised hydrolase involved GAG removes 2-O-sulfate group from 2-sulfoglucuronate. Knockout Arsk mice was consistent with mild storage pathology, but no human phenotype has yet described. Methods In this study, we...
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects further factors for assembly (TTC19, UQCC2, UQCC3) iron-sulphur cluster loading (BCS1L LYRM7) cause deficiency. Here, we report a second patient with UQCC2 This girl was born prematurely; pregnancy complicated by intrauterine growth retardation oligohydramnios. She presented distress...
Background: Accumulating evidence points toward mutual interaction between parathyroid hormone (PTH) and aldosterone as potential mechanism for increasing cardiovascular risk in primary hyperparathyroidism (pHPT). Methods: The Eplerenone on levels patients with (EPATH) trial is a single-center, randomized, double-blind, parallel-group, placebo-controlled trial. aim to evaluate the effects of mineralocorticoid receptor antagonist eplerenone plasma intact PTH (iPTH) concentration pHPT....
Background Genes implicated in the Golgi and endosomal trafficking machinery are crucial for brain development, mutations them particularly associated with postnatal microcephaly (POM). Methods Exome sequencing was performed three affected individuals from two unrelated consanguineous families presenting delayed neurodevelopment, intellectual disability of variable degree, POM failure to thrive. Patient-derived fibroblasts were tested functional effects variants. Results We detected...
POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported perform large-scale phenotype-genotype comparison from published data. Overall, 117 patients' genotype phenotype were included in the analysis, including 12 novel...
Fetal neurosonography and the assessment of posterior fossa have gained in importance during last 2 decades primarily due to development high-resolution ultrasound probes introduction 3 D sonography. The anatomical can be visualized well with newest technologies. This allows better knowledge structures helps understanding malformations fossa. In this article longitudinal will reviewed. embryologic description compared descriptions. These anatomic illustrations form basis for screening...
Overexpression the KCNJ3, a gene that encodes subunit 1 of G-protein activated inwardly rectifying K+ channel (GIRK1) in primary tumor has been found to be associated with reduced survival times and increased lymph node metastasis breast cancer patients. In order survey possible tumorigenic properties GIRK1 overexpression, range malignant mammary epithelial cells, based on MCF-7 cell line permanently overexpress different splice variants KCNJ3 (GIRK1a, GIRK1c, GIRK1d as control, eYFP) were...
Accumulating evidence suggests that individuals with sarcomeric hypertrophic cardiomyopathy (HCM) carrying MYH7 mutations may have a worse prognosis than MYBPC3 mutation carriers. Myocardial deformation analysis is superior to standard echocardiography in detecting subtle myocardial dysfunction and scar formation, but studies evaluating the association HCM genotype are scarce. We therefore aimed compare strain parameters between carriers proven HCM. Participants of prospective Graz Registry...
Summary Two enzyme-linked immunosorbent assays (ELISAs) for the quantitation of rat plasminogen activator inhibitor-1 (PAI-1) antigen and activity, respectively, in biological fluids were developed using monoclonal antibodies raised against recombinant PAI-1. These had a lower limit sensitivity plasma 0.3 0.15 ng/ml, respectively. The intra-assay, inter-assay inter-dilution coefficients variation 9, 14 9%, assay 8, 17 13%, respectively activity assay. Assay recoveries PAI-1 (5 to 20 ng/ml)...
Fibroblast growth factor 12 ( FGF12 ) spans 5 exons and encodes for a cytosolic voltage-gated sodium channel binding protein that modulates neuronal excitability.1,2 A recurrent activating mutation (NM_021032, [GRCh37] 192053223C>T, p.R114H in A-isoform, p.R52H B-isoform) causes epileptic encephalopathy (EE) with neonatal onset intellectual disability (ID).2–6 Recently, tandem duplication involving 1–4 of the gene was related to later EE phenotype.7 Here, we characterize second case...
ABSTRACT Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants VCP are associated with adult-onset multisystem proteinopathy (MSP) presents myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who carry novel heterozygous (12 de novo , 1 inherited) a childhood-onset disorder characterized by developmental delay,...
Background/Purpose: Modern sequencing methods (next-generation [NGS]) revolutionized the field of pediatric epileptology over last decade. Gene panel testing, as well whole-exome (WES), a technique for all protein-coding regions genes in genome, contribute to solving previously unsolved cases with clinically unspecific phenotypes.