Mohammad R. Toliat
A5076373159- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Pharmacogenetics and Drug Metabolism
- Ion channel regulation and function
- Sepsis Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Genetic Associations and Epidemiology
- Cardiomyopathy and Myosin Studies
- Neuroscience and Neuropharmacology Research
- Microtubule and mitosis dynamics
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Autoimmune Bullous Skin Diseases
- Urticaria and Related Conditions
- Ion Transport and Channel Regulation
- Drug Transport and Resistance Mechanisms
- Receptor Mechanisms and Signaling
- Nicotinic Acetylcholine Receptors Study
- Genetic and Kidney Cyst Diseases
- Diet and metabolism studies
- RNA Research and Splicing
- Connective tissue disorders research
- Alkaline Phosphatase Research Studies
- Genital Health and Disease
University of Cologne
2015-2024
University Hospital Cologne
2021-2022
Genomics (United Kingdom)
2007-2016
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
2015
Inserm
2012
Sorbonne Université
2012
Hertie Institute for Clinical Brain Research
2012
Kumasi Centre for Collaborative Research in Tropical Medicine
2007
Kwame Nkrumah University of Science and Technology
2007
University of Bonn
2007
A significant number of patients treated with anthracyclines develop cardiotoxicity (anthracycline-induced [ACT]), mainly presenting as arrhythmias (acute ACT) or congestive heart failure (chronic ACT). There are no data on pharmacogenomic predictors ACT.We genotyped participants the German non-Hodgkin lymphoma study (NHL-B) who were followed up for development a median >3 years. Single-nucleotide polymorphisms (SNPs) selected from 82 genes conceivable relevance to ACT. Of 1697 patients, 55...
Dupuytren's disease is a benign fibromatosis of the hands and fingers that leads to flexion contractures. We hypothesized multiple genetic environmental factors influence susceptibility this sought identify genes better understand its pathogenesis.
Community-acquired pneumonia (CAP) accounts for a major proportion of intensive care unit (ICU) admissions respiratory failure and sepsis. Diagnostic uncertainty complicates case management, which may delay appropriate cause-specific treatment.To characterize the blood genomic response in patients with suspected CAP identify candidate biomarker rapid diagnosis on ICU admission.The study comprised two cohorts consecutively enrolled treated admission. Patients were designated (cases) no-CAP...
Extracellular matrix proteins, such as laminins, and endothelial cells are known to influence cardiomyocyte performance; however, the underlying molecular mechanisms remain poorly understood.We used a forward genetic screen in zebrafish identify novel genes required for myocardial function were able lost-contact (loc) mutant, which encodes nonsense mutation integrin-linked kinase (ilk) gene. This loc/ilk mutant is associated with severe defect cardiomyocytes that leads dysfunction....
Alzheimer's disease (AD) is a complex, irreversible neurodegenerative disorder. At present there are neither reliable markers to diagnose AD at an early stage nor therapy. To investigate underlying mechanisms, induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal in dish.In this study, employing iPS technology, we derived and characterized iPSCs from dermal fibroblasts 82-year-old female patient affected by sporadic AD. The AD-iPSCs were differentiated into...
Partial deletions of the gene encoding neuronal splicing regulator RBFOX1 have been reported in a range neurodevelopmental diseases, including idiopathic generalized epilepsy. The protein and its homologues (RBFOX2 RBFOX3) regulate alternative many transcripts involved homeostatic control excitability. In this study, we explored if structural microdeletions exonic sequence variations RBFOX1, RBFOX2, RBFOX3 confer susceptibility to rolandic epilepsy (RE), common focal childhood By...
Tumorigenesis is characterized by alterations of methylation profiles including loss and gain 5-methylcytosine. Recently, we identified a single CpG, which seemed to be consistently hypomethylated in pilocytic astrocytomas but not other gliomas. To evaluate its applicability as biomarker, examined status large panel gliomas (n = 97). Methylation-dependent DNA sequence variation may considered kind nucleotide polymorphism (methylSNP). MethylSNPs can easily converted into common SNPs the C/T...
<i>Objective:</i> To evaluate the relevance and necessity to account for effects of population substructure on association studies under a case-control design in central Europe, we analysed three samples drawn from different geographic areas Germany. Two samples, POPGEN (n = 720) SHIP 709), are north north-east Germany, respectively, one sample, KORA 730), is southern <i>Methods:</i> Population genetic differentiation was measured by classical F-statistics marker...
Urinary bladder malformations associated with outlet obstruction are a frequent cause of progressive renal failure in children. We here describe muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation familial congenital malformation prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the receptor, which we show is present developing epithelia and muscle. These observations may imply that has...
<h3>Objective:</h3> The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, underlying genes largely unknown. We screened <i>SLC2A1</i> gene, encoding glucose transporter type 1 (GLUT1), for mutations in a group of 95 European patients with familial IGE. <h3>Methods:</h3> affected individuals were examined clinically by EEG and brain imaging. coding regions sequenced index cases all families. Wild-type mutant transporters expressed...
Abstract Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe , a two-in-one method of measuring cfDNA cytosine methylation nucleosome occupancy single assay using non-disruptive enzymatic conversion custom bioinformatic pipeline. show that better preserves fragmentation information than does bisulfite conversion. Whereas previously separate experiments were required to study either epigenetic marking, delivers reliable results for...
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy.Its molecular basis largely unknown and a complex genetic etiology assumed in majority of affected individuals.The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2,15q13.3,16p11.2,16p13.
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA JBTS genes, homozygosity mapping, whole-exome identified homozygous missense variant, c.317G>C (p.Arg106Pro), POC1B, gene essential ciliogenesis, basal body, centrosome integrity. In silico modeling suggested requirement of p.Arg106 the formation third WD40 repeat protein...
To test whether mutations in γ-aminobutyric acid type A receptor (GABAA -R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE).We performed exome sequencing compare frequency 18 GABAA -R 204 European patients with RE/ARE versus 728 platform-matched controls. Identified GABRG2 were functionally assessed for protein stability, trafficking, postsynaptic clustering, and function.Of screened genes, we detected an enrichment rare gene (5 204, 2.45%)...
Preclinical studies suggest that hospitalized patients are susceptible to infections caused by nosocomial respiratory pathogens at least in part because of immune suppression the condition for which they were admitted.We aimed characterize systemic host response hospital-acquired pneumonia (HAP) when compared with community-acquired (CAP).We performed a prospective study two intensive care units (ICUs) 453 HAP (n = 222) or CAP 231). Immune responses determined on ICU admission measuring 19...