Eunike Velleuer
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View article: Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia Open
Summary Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and atypical physical features whose g…
View article: A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia
A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia Open
Fanconi anemia, a rare disorder with an incidence of 1 in 300,000, is caused by mutations in FANC genes, which affect the repair of DNA interstrand crosslinks. The disease is characterized by congenital malformations, bone marrow failure w…
View article: Vitamin D and Aging: Central Role of Immunocompetence
Vitamin D and Aging: Central Role of Immunocompetence Open
The pro-hormone vitamin D3 is an important modulator of both innate and adaptive immunity since its biologically active metabolite 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3) regulates via the transcription factor VDR (vitamin D receptor) the …
View article: Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing
Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing Open
Primary atopic disorders (PAD) are monogenic disorders caused by pathogenic gene variants encoding proteins that are key for the maintenance of a healthy skin barrier and a well-functioning immune system. Physicians face the challenge to f…
View article: Concepts of multi-level dynamical modelling: understanding mechanisms of squamous cell carcinoma development in Fanconi anemia
Concepts of multi-level dynamical modelling: understanding mechanisms of squamous cell carcinoma development in Fanconi anemia Open
Fanconi anemia (FA) is a rare disease (incidence of 1:300,000) primarily based on the inheritance of pathogenic variants in genes of the FA/BRCA (breast cancer) pathway. These variants ultimately reduce the functionality of different prote…
View article: Concepts of multi-level dynamical modelling: Understanding mechanisms of squamous cell carcinoma development in Fanconi anemia
Concepts of multi-level dynamical modelling: Understanding mechanisms of squamous cell carcinoma development in Fanconi anemia Open
Fanconi anemia (FA) is a rare disease (incidence of 1:300,000) primarily based on the inheritance of pathogenic variants in genes of the FA/BRCA (breast cancer) pathway. These variants ultimately reduce the functionality of different prote…
View article: Supplementary tables and figure legends from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
Supplementary tables and figure legends from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Supplementary tables and figure legends
View article: supplementary figure S3 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S3 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S3. Visible lesions in non-transplanted FA patients. Visible lesions were found in 27 of 110 patients (25%) with follow-up. Five patients with visible lesions (4 with LOH, 1 without LOH) developed HNSCC.
View article: Supplementary tables and figure legends from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
Supplementary tables and figure legends from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Supplementary tables and figure legends
View article: supplementary figure S3 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S3 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S3. Visible lesions in non-transplanted FA patients. Visible lesions were found in 27 of 110 patients (25%) with follow-up. Five patients with visible lesions (4 with LOH, 1 without LOH) developed HNSCC.
View article: supplementary figure S2 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S2 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S2. Picture of a FA patient (F06-84) with squamous cell carcinoma of the gingiva LOH at chromosome arm 9p in brush C was detected in the first brush of patient F06-84.
View article: supplementary figure S1 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S1 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S1. Follow-up of non-transplanted FA patients Follow-up of the 141 non-transplanted FA patients. Four of 10 patients with LOH and 1 of 100 patients without LOH developed HNSCC.
View article: supplementary figure S1 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S1 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S1. Follow-up of non-transplanted FA patients Follow-up of the 141 non-transplanted FA patients. Four of 10 patients with LOH and 1 of 100 patients without LOH developed HNSCC.
View article: supplementary figure S2 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
supplementary figure S2 from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
Figure S2. Picture of a FA patient (F06-84) with squamous cell carcinoma of the gingiva LOH at chromosome arm 9p in brush C was detected in the first brush of patient F06-84.
View article: Data from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
Data from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions and promising biomarkers to monitor the development of oral cancer. Noninvasive LOH screening of brushed oral cells is a …
View article: Data from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients
Data from Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients Open
LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions and promising biomarkers to monitor the development of oral cancer. Noninvasive LOH screening of brushed oral cells is a …
View article: Immunity to Viral Pathogens and the Virome
Immunity to Viral Pathogens and the Virome Open
In this chapter, we will focus on virus infections and understand how our immune system is combating them. First, we will discuss the principles of the effector functions of innate and adaptive immunity against acute virus infections. Then…
View article: DNA Methylation
DNA Methylation Open
In this chapter, the best-understood epigenetic mark, cytosine methylation of genomic DNA, will be introduced. DNA methylation is performed by DNA methyltransferases (DNMTs) and primarily result in 5-methylcytosine (5mC) within CpGs. It is…
View article: Metastasis and Cachexia
Metastasis and Cachexia Open
In this chapter, we will understand that malignant primary tumors become dangerous when angiogenesis allows their massive growth and in particular when some of the cancer cells spread to other organs and form metastases. Cancer cells that …
View article: Chromatin Remodeling and Organization
Chromatin Remodeling and Organization Open
In this chapter, we will learn that nucleosome positioning around TSS regions has an important role on coordinated gene activation of promoter regions. In this context, we will discuss that chromatin modification and remodeling machineries…
View article: Antigen-Presenting Cells and MHCs
Antigen-Presenting Cells and MHCs Open
In this chapter, we will discuss the principles of antigen presentation. We will learn that the major purpose of antigen-presenting cells, such as DCs, macrophages and B cells, is to display peptide antigens to T cells. These peptides are …
View article: Cancer Epigenomics
Cancer Epigenomics Open
In this chapter, we will learn that compared to normal cells, cancer cells show epigenetic drifts. These are genome-wide changes in DNA methylation, histone modifications and 3D chromatin structure representing epimutations. Moreover, many…
View article: Cells and Tissues of the Immune System
Cells and Tissues of the Immune System Open
This chapter, will provide a first overview on the cells and tissues forming the immune system. We will discuss the general role of immunity in detecting and neutralizing pathogens, in order to reduce the global burden of infectious diseas…
View article: Obesity
Obesity Open
In this chapter, we will define obesity as the consequence of excess WAT accumulation that increases the risk of non-communicable diseases. We will describe adipocytes as the central cellular component of adipose tissue and adipogenesis as…
View article: Architecture of Cancer Therapies
Architecture of Cancer Therapies Open
In this chapter, we will discuss that the classical therapy of solid cancers is surgery, which is often combined with radiation therapy and cytotoxic chemotherapy. The latter is an economic way of cancer treatment but often causes side eff…
View article: Cancer Immunology
Cancer Immunology Open
In this chapter, we will learn that a potent immune system is not only protecting us from infectious diseases but also performs daily surveillance of our body for transformed cancer cells. We will discuss the core mechanism of cancer immun…
View article: Chronic Inflammation and Metabolic Stress
Chronic Inflammation and Metabolic Stress Open
In this chapter, we will present M1-type macrophages as the key cells in the initiation of the acute inflammatory response, while M2-type macrophages are resolving inflammation and coordinate tissue repair. Tissue inflammation is not only …
View article: Immunological Hypersensitivities: Allergy and Autoimmunity
Immunological Hypersensitivities: Allergy and Autoimmunity Open
In this chapter, we will discuss about different types of hypersensitivities of the immune system, which are either mediated primarily by IgEs and TH2 cells (type I), IgGs and IgMs (type II), immune complexes (type III) and T cells (type I…
View article: Multistep Tumorigenesis and Genome Instability
Multistep Tumorigenesis and Genome Instability Open
In this chapter, we will describe that the characterization of the growth of primary and metastatic tumors is crucial for the diagnosis and therapy of cancer. The process of tumorigenesis comprises multiple steps of mutations in cancer dri…
View article: Heart Disease and the Metabolic Syndrome
Heart Disease and the Metabolic Syndrome Open
In this chapter, we will link three important risk factors for heart disease: hypertension, atherosclerosis and dyslipidemia. Chronically elevated blood pressure, i.e., hypertension, increases the risk of ischemic heart disease, stroke, pe…