A5023582962- Neurofibromatosis and Schwannoma Cases
- Tuberous Sclerosis Complex Research
- Neuroblastoma Research and Treatments
- Sarcoma Diagnosis and Treatment
- Renal cell carcinoma treatment
- Epigenetics and DNA Methylation
- Meningioma and schwannoma management
- Hereditary Neurological Disorders
- RNA modifications and cancer
- Histiocytic Disorders and Treatments
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Renal and related cancers
- Proteoglycans and glycosaminoglycans research
- Cell Adhesion Molecules Research
- Chromosomal and Genetic Variations
- Mitochondrial Function and Pathology
- Neuroendocrine Tumor Research Advances
- Connective tissue disorders research
- Cardiac tumors and thrombi
- Genomics and Phylogenetic Studies
- Nerve injury and regeneration
- Genomics and Chromatin Dynamics
- Signaling Pathways in Disease
- Corneal Surgery and Treatments
Universitätsklinikum Erlangen
2023-2025
Research Centre for Medical Genetics
2017-2024
Friedrich-Alexander-Universität Erlangen-Nürnberg
2023
Ariel University
2023
Pirogov Russian National Research Medical University
2017
Background: Transposons are selfish genetic elements that self-reproduce in host DNA. They were active during evolutionary history and now occupy almost half of mammalian genomes. Close insertions transposons reshaped structure regulation many genes considerably. Co-evolution DNA frequently results the formation new regulatory regions. Previously we published a concept proportion functional features held by positively correlates with rate evolution respective genes. Methods: We ranked human...
Extracellular matrix (ECM) deposition after central nervous system (CNS) injury leads to inhibitory scarring in humans and other mammals, whereas it facilitates axon regeneration the zebrafish. However, molecular basis of these different fates is not understood. Here, we identify small leucine-rich proteoglycans (SLRPs) as a contributing factor failure mammals. We demonstrate that SLRPs chondroadherin, fibromodulin, lumican, prolargin are enriched rodent human but zebrafish CNS lesions....
Aim: To provide a breast cancer (BC) methylotype classification by genome-wide CpG islands bisulfite DNA sequencing. Materials & methods: XmaI-reduced representation sequencing methylation method was used to profile of 110 BC samples and 6 normal samples. Intrinsic subtypes were elicited unsupervised hierarchical cluster analysis, cluster-specific differentially methylated genes identified. Results conclusion: Overall, six distinct methylotypes cell lines constitute separate group extremely...
Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) is a recently described disease entity primarily affecting young children drug-resistant epilepsy, mainly the frontal lobe. The condition histopathologically defined by focal lesions patchy areas increased oligodendroglial cell density at grey-white matter boundary and heterotopic neurons white matter. Approximately half individuals MOGHE carry brain somatic variants SLC35A2 gene, which affects...
Aim: To develop a reduced representation bisulfite sequencing (RRBS) approach for rapid and affordable genome-wide DNA methylation analysis. Methods: We have selected restriction endonuclease XmaI to produce RRBS library fragments. After digestion partial fill-in fragments were ligated barcoded adapters, converted, size-selected, sequenced on the Ion Torrent Personal Genome Machine. XmaI-RRBS results compared with previously published data. Results: developed an method analysis, preparation...
Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The includes three entities: neurofibromatosis type I, II schwannomatosis, which characterized by gradual phenotype development have partially overlapping spectrum manifestations, complicates diagnosis establishing, especially at the stage clinical onset. At same time, emergence new pathogenetic therapy high risk transmission to descendants actualize necessity...
We present the genetic profile of kidney giant leiomyosarcoma characterized by sequencing 409 cancer related genes and chromosomal microarray analysis. Renal leiomyosarcomas are extremely rare neoplasms with aggressive behavior poor survival prognosis. Most frequent somatic events in mutations TP53, RB1, ATRX, PTEN genes, instability (CIN) chromoanagenesis. 67-year-old woman presented a right completely replaced tumor. Immunohistochemical reaction on surgical material was positive to desmin...
Meningioma is the most common primary tumor of central nervous system. Traditional classification based on histological properties tumors and distinguishes different grades meningioma malignancy. However, knowledge about molecular mechanisms provided new data genetic features meningiomas. The authors analyze current available main driver mutations, classifications characteristics potential targets for therapy.Менигиомы — самые распространенные первичные опухоли центральной нервной системы....
Актуальность. Нейрофиброматоз первого типа является одним из наиболее распространенных моногенных заболеваний. Этиологическим фактором его развития патогенная мутация в гене NF1. Однако у части пациентов не удается достичь молекулярно-генетического подтверждения клинического диагноза. Мы полагаем, что некоторых случаях это может быть обусловлено соматическим мозаицизмом с малой долей клеток, несущих патогенный аллель, анализируемом образце биологического материала. Аллели низкой...
Background. The use of high-throughput parallel sequencing (NGS) is fraught with errors: not all the genetic variants that are detected by NGS true and confirmed alternative methods. Incorrectly mapped reads contribute to appearance false-positive variants. We believe for targeted using Ion AmpliSeq technology, task excluding erroneously can be solved algorithmically. Additional information on genomic coordinates target regions primers used in amplification allows us evaluate validity...
Background: The products of TSC1 and TSC2 genes, hamartin tuberin respectively, form a complex that is the natural inhibitor mammalian target rapamycin (mTOR). Mutations in these genes are associated with such diseases as tuberous sclerosis (TS) lymphangioleiomyomatosis, for which main pharmacologic treatment at present everolimus, mTOR kinase inhibitor. Benign tumors like renal angiomyolipoma pancreatic neuroendocrine (PNET) can occur 70% 10% patients, but overwhelming majority them...
Sporadic angiomyolipoma of the kidney is most common type renal benign tumors with an estimated frequency 1 case per 250 people. Despite asymptomatic course, increase tumor size, risk rupture micro- and macroaneurysms also increases, which threatens patient’s life. The use mTOR protein kinase inhibitors leads to reduction. However, such drugs are prescribed only if patient has a somatic or germline mutation in TSC1 TSC2 genes products endogenous reaction cascade PI3K/Akt/mTOR pathway....
Введение. Спорадическая ретинобластома развивается в результате мутаций de novo обоих аллелях гена RB1 клетках сетчатки глаза. При спорадической ретинобластоме первоначальная мутация гене нередко является мозаичной, то есть образуется постзиготической ранней эмбриональной клетке, что приводит к неравномерному распределению мутантных клонов между различными тканями организма. Возможность идентифицировать мозаичный вариант мутации имеет значение как для медико-генетического консультирования,...
Our pilot study aimed at exploratory radiogenomic data analysis in patients with NF2-associated schwannomatosis (formerly neurofibromatosis type II) to assume the potential of image biomarkers this pathology. Fifty-three unrelated (37 (69.8%) women, avg. age 30.2 ± 11.2 y.o.) were enrolled study. First-order, gray-level co-occurrence matrix (GLCM), run length (GLRLM), and geometry-based statistics calculated (3718 features per region interest). We demonstrated imaging patterns statistically...
We performed a comprehensive molecular genetic examination of 76 patients with tuberous sclerosis. For establish diagnosis the disease, we applied new medical technology that includes targeted high-throughput parallel DNA sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing. Search for point mutations small indels in TSC1 TSC2 genes was carried out next generation on Ion S5 instrument. In order to filter artifacts, pathogenicity detected single...
Background. In cases of neurofibromatosis type 1 and 2, pathogenic mutations are distributed evenly along the coding regions NF1 NF2 genes. Herewith, in more than 50% cases, disease is result a de novo mutation. Therefore, search for causative mutation particularly time-consuming catalogs non-pathogenic genetic variants an indispensable assistance handbook geneticists their work. Objective. To determine spectrum alterations Russian patients to characterize novel rare Material methods. The...