A5070449982- Porphyrin Metabolism and Disorders
- Metabolism and Genetic Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Skin and Cellular Biology Research
- Cancer and Skin Lesions
- Neonatal Health and Biochemistry
- Genetic and rare skin diseases.
- Methemoglobinemia and Tumor Lysis Syndrome
- Dermatological and Skeletal Disorders
- RNA regulation and disease
- Autoimmune Bullous Skin Diseases
- Congenital Heart Disease Studies
- Cardiac Arrhythmias and Treatments
- Pulmonary Hypertension Research and Treatments
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Hair Growth and Disorders
- Hedgehog Signaling Pathway Studies
- Nonmelanoma Skin Cancer Studies
- Adrenal Hormones and Disorders
- Nail Diseases and Treatments
- Cutaneous lymphoproliferative disorders research
- Eosinophilic Disorders and Syndromes
- Mitochondrial Function and Pathology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
Universitätsmedizin Göttingen
2016-2024
University of Göttingen
2016-2023
Klinikum Chemnitz
2023
Technische Universität Dresden
2023
Robert Koch Institute
2017-2020
Heinrich Heine University Düsseldorf
2011-2016
Düsseldorf University Hospital
2014-2016
Norwegian University of Life Sciences
2016
Maastricht University
2006-2015
University Medical Center
2009-2015
There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases which entirely unknown. A kindred with a rare, recessively inherited type alopecia universalis was used to search for locus by homozygosity mapping, and linkage established in 6-centimorgan interval on chromosome 8p12 (the logarithm odds favoring score 6.19). The homolog murine gene, hairless , localized this radiation hybrid missense mutation found affected individuals. Human encodes...
Erythropoietic protoporphyria is a severe photodermatosis that associated with acute phototoxicity. Patients this condition have excruciating pain and markedly reduced quality of life. We evaluated the safety efficacy an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease improve life.We conducted two multicenter, randomized, double-blind, placebo-controlled trials subcutaneous implants containing 16 mg afamelanotide. in European Union (74 patients) United States (94 were...
Hepatocytes and hepatic stellate cells play important roles in retinoid storage metabolism. process postprandial retinyl esters are responsible for secretion of retinol bound to retinol-binding protein (RBP) maintain plasma levels. Stellate the body's major cellular sites retinoid. We have characterized utilized an immortalized rat cell line, HSC-T6 cells, facilitate study aspects processing. For comparison, we also carried out parallel studies Hepa-1 hepatocytes. Like activated primary...
DNA assembly is a core methodological step in metagenomic pipelines used to study the structure and function within microbial communities. Here we investigate utility of Pacific Biosciences long high accuracy circular consensus sequencing (CCS) reads for projects. We compared application performance both PacBio CCS Illumina HiSeq data with taxonomic binning algorithms using samples representing complex community. Eight SMRT cells produced approximately 94 Mb from biogas reactor microbiome...
Summary Basal cell carcinoma (BCC) is the most common malignant tumor among fair‐skinned individuals, and its incidence had been steadily rising in past decades. In order to maintain highest quality of patient care possible, German S2k guidelines were updated following a systematic literature search with participation all professional societies associations involved management disease. Part 2 addresses issues such as proper risk stratification, various therapeutic approaches, prevention well...
Hailey-Hailey disease (HHD) is an autosomal dominant trait characterized by erythematous and oozing skin lesions preponderantly involving the body folds. In present unusual case, however, unilateral segmental areas along lines of Blaschko showing a rather severe involvement were superimposed on ordinary symmetrical phenotype. Based this observation similar forms mosaicism as reported in other disorders, we postulated that such cases, 2 different types can be distinguished. Accordingly,...
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or O-glucosyltransferase (POGLUT1). Here, we have identified 6 heterozygous truncating PSENEN, encoding presenilin enhancer 2, unrelated patients and families DDD whom KRT5, POFUT1, POGLUT1 been excluded. Further examination revealed that the histopathologic feature follicular hyperkeratosis distinguished these from...
Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.Epidemiological data from countries have been published, but none are available Germany.In this population-based cross-sectional study, people living EB Germany were identified using the following sources: academic hospitals, diagnostic laboratories patient organization.Our study indicates an overall incidence 45 per million live births Germany. With...
Summary Genetic alterations of the FOXN1 transcription factor, selectively expressed in thymic epithelia and skin, are responsible both mice humans for Nude/SCID phenotype. The first described human mutation was a C792T transition exon 5 resulting nonsense R255X, detected two probands originated from small community southern Italy. In this community, four additional children affected with congenital alopecia died early childhood because severe infections. study, we report on screening 30%...
The microbial production of methane or “biogas” is an attractive renewable energy technology that can recycle organic waste into biofuel. Biogas reactors operating with protein-rich substrates such as household municipal agricultural wastes have significant industrial and societal value; however, they are highly unstable frequently collapse due to the accumulation ammonia. We report discovery a novel uncultured phylotype (unFirm_1) detectable in metaproteomic data generated from...