A5085309615- Retinal Development and Disorders
- Retinal Diseases and Treatments
- S100 Proteins and Annexins
- Protease and Inhibitor Mechanisms
- Retinal and Macular Surgery
- Acute Myeloid Leukemia Research
- Erythrocyte Function and Pathophysiology
- Retinoids in leukemia and cellular processes
- Cancer Genomics and Diagnostics
- Bone health and treatments
- Ion channel regulation and function
- Mitochondrial Function and Pathology
- Ocular Disorders and Treatments
- Connexins and lens biology
- Protein Kinase Regulation and GTPase Signaling
- Receptor Mechanisms and Signaling
- Chronic Myeloid Leukemia Treatments
- Nitric Oxide and Endothelin Effects
- Sphingolipid Metabolism and Signaling
- Advanced biosensing and bioanalysis techniques
- SARS-CoV-2 and COVID-19 Research
- RNA regulation and disease
- COVID-19 Clinical Research Studies
- Immune Cell Function and Interaction
- Blood Coagulation and Thrombosis Mechanisms
Institute of Molecular Biology
2023-2024
Georg Speyer Haus
2019-2023
STZ eyetrial
2017-2021
University of Tübingen
2015-2021
Universidad de Oviedo
2015
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone (CD) harboring potential pathogenic variants the CDHR1 gene. Detailed examination was performed seven sporadic six familial subjects. Mutation screening done using a customized next generation sequencing panel targeting 105 genes implicated inherited retinal disorders. In one family, homozygosity mapping subsequent candidate gene analysis performed....
Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, genetic factors. Cis-acting expression quantitative trait loci (cis-eQTLs) can be implicated in the regulation of genes by favoring or hampering one allele over other. Thus, presence such elicits allelic imbalance (AEI) that traced massive parallel sequencing techniques. In this study, we performed an AEI...
Abstract Haematopoietic stem cells (HSC) reside in the bone marrow microenvironment (BMM), where they respond to extracellular calcium [eCa 2+ ] via G-protein coupled calcium-sensing receptor (CaSR). Here we show that a gradient exists this BMM, and response differ between leukaemias. CaSR influences location of MLL-AF9 + acute myeloid leukaemia (AML) within niche differentially impacts AML versus BCR-ABL1 Deficiency reduces leukaemic (LSC) 6.5-fold. interacts with filamin A, crosslinker...
Abstract Cone dystrophies are a rare subgroup of inherited retinal and hallmarked by color vision defects, low or decreasing visual acuity central loss, nystagmus photophobia. Applying genome-wide linkage analysis array comparative genome hybridization, we identified locus for autosomal dominant cone dystrophy on chromosome 16q12 in four independent multigeneration families. The is defined duplications variable size with smallest region overlap 608 kb affecting the IRXB gene cluster...
Fibrinolysis influences the mobilization of hematopoietic stem cells from their bone marrow microenvironment (BMM). Here we show that activation plasmin, a key fibrinolytic agent, by annexin A2 (ANXA2) distinctly impacts progression BCR-ABL1+ B-cell acute lymphoblastic leukemia (B-ALL) via modulation extracellular matrix (ECM) in BMM. The dense ECM BMM with decreased plasmin activity entraps insulin-like growth factor (IGF) 1 and reduces mTORC2-dependent signaling proliferation B-ALL cells....
The SARS-CoV-2 pandemic has affected nations globally leading to illness, death, and economic downturn. Why disease severity, ranging from no symptoms the requirement for extracorporeal membrane oxygenation, varies between patients is still incompletely understood. Consequently, we aimed at understanding impact of genetic factors on severity in infection with SARS-CoV-2. Here, provide data demographics, ABO blood group, human leukocyte antigen (HLA) type, as well next-generation sequencing...