A5000954334- Hemophilia Treatment and Research
- Platelet Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Hedgehog Signaling Pathway Studies
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Axon Guidance and Neuronal Signaling
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- Retinal Development and Disorders
- Wnt/β-catenin signaling in development and cancer
- Genetic and rare skin diseases.
- Chronic Myeloid Leukemia Treatments
- Visual perception and processing mechanisms
- Vascular Malformations and Hemangiomas
- Neurofibromatosis and Schwannoma Cases
- Molecular Biology Techniques and Applications
- Prostate Cancer Treatment and Research
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Bladder and Urothelial Cancer Treatments
- Blood groups and transfusion
Medizinische Hochschule Hannover
2013-2025
Otto-von-Guericke University Magdeburg
2013-2024
University Hospital Magdeburg
2004-2023
Rotunda Hospital
2023
Ludwig-Maximilians-Universität München
2014
University of Oxford
2013
Society of Paediatric Oncology and Haematology
2011
Texas Tech University Health Sciences Center
2007-2009
Texas Tech University
2007-2009
Johannes Gutenberg University Mainz
2007
The ability to edit the genome is essential for many state-of-the-art experimental paradigms. Since DNA breaks stimulate repair, they can be exploited target site-specific integration. clustered, regularly interspaced, short palindromic repeats (CRISPR)/cas9 system from Streptococcus pyogenes has been harnessed into an efficient and programmable nuclease eukaryotic cells. We thus combined cleavage by cas9, generation of homologous recombination donors polymerase chain reaction (PCR)...
Oculoectodermal syndrome ( OES ) and encephalocraniocutaneous lipomatosis ECCL are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor‐like lesions, others. About 20 cases with more than 50 patients have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole‐genome sequencing has led the identification of somatic KRAS mutations, p. Leu19Phe...
We describe a procedure for genomic difference cloning, method isolating sequences present in one DNA population ("tester") that is absent another ("driver"). By subtractive hybridization, large excess of driver used to remove common biotinylated tester, enriching the "target" are unique tester. After repeated hybridization cycles, tester separated from by avidin/biotin affinity chromatography, and single-stranded target amplified polymerase chain reaction, rendering it double-stranded...
Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies eye, skin, heart, brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo-cranio-cutaneous lipomatosis (ECCL), Schimmelpenning-Feuerstein-Mims (SFMS). Here, we report the results clinical molecular characterization novel cohort patients with RASopathies.Two OES, two ECCL, SFMS were ascertained study. In addition, subjects...
Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than hemizygous males. Heterozygous have craniofrontonasal dysplasia (CFND) and occasionally extracranial manifestations including midline defects skeletal abnormalities, whereas males show no or only mild features such as hypertelorism rarely cleft lip palate. Mutations the EFNB1 gene Xq12 are responsible for familial sporadic CFNS. The encodes ephrin-B1,...
Congenital hyperinsulinism (CHI) causes hypoglycemia due to irregular insulin secretion. In infants, a rapid diagnosis and appropriate management avoid severe is mandatory. CHI heterogeneous condition at the clinical genetic level, disease-causing genes have been identified in about half of patients. The majority mutations <i>ABCC8</i> <i>KCNJ11</i> encoding subunits K<sub>ATP</sub> channel responsible for two distinct histological forms. diffuse form...
Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, testing now part of the diagnostic workup alongside clinical, radiological histopathological data. Nonetheless, access to still limited, there significant heterogeneity across approaches used laboratories, direct consequences on test sensitivity accuracy. clinical utility expected...
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and spectrum neuromuscular, ocular, bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes specific sub-entity in which elevated levels fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable causal therapy. Here, we report the first long-term follow-up treatment with burosumab 3-year-old female patient CSHS....
Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X‐linked malformation characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. In the majority of patients CFNS caused mutations EFNB1 gene (MIM 300035). We identified three girls with classical mild developmental delay harboring de novo deletions gene. Applying haplotype analysis, Southern blot hybridization array‐comparative genomic hybridization, deletion was found to be part contiguous...
The gene encoding integrator complex subunit 6 (INTS6), previously known as deleted in cancer cells 1 (DICE1, OMIM 604331) was found to be frequently affected by allelic deletion and promoter hypermethylation prostate specimens cell lines. A missense mutation has been detected line LNCaP. Together, these results suggest INTS6/DICE1 a putative tumor suppressor cancer. In this study, we examined the growth inhibitory effects of on cells.Markedly decreased mRNA levels were lines LNCaP, DU145...
Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in congenital absence of input to visual cortex. This might lead distinct changes cortical architecture negative impact on the success gene augmentation therapies. To investigate status cortex these patients, we performed multi-centre study focusing structure regions that normally receive predominantly input. Using high-resolution T1-weighted MRI scans and...