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1.
Hautarzt ; 71(8): 572-579, 2020 Aug.
Article in German | MEDLINE | ID: mdl-32494842

ABSTRACT

BACKGROUND: Ultraviolet radiation (UV)-induced malignancies, especially skin cancer, have continued to increase for decades. The main cause is natural and artificial UV radiation. The affected persons and the health care system are heavily burdened. The situation threatens to worsen, as climate change could lead to an increase in UV radiation exposure of the population and, thus, the risk of UV-related cancer in Germany as well. The prevention of UV-related diseases is, therefore, a health and radiation protection objective that needs to be considered. OBJECTIVE: Necessary and appropriate prevention measures for the precaution of UV-related cancer are presented. MATERIALS AND METHODS: The currently recommended and applied primary behavioral and structural preventive measures and potential, prevention-related relief for the health care system are examined and summarized. RESULTS: Numerous behavioral and structural preventive measures are already being applied. Sustainably designed, multicomponent and personalized behavioral preventive measures in combination with structural prevention modules are effective and have a high economic and health-related benefit. The use of modern media and multimedia measures is recommended. CONCLUSION: Structural prevention measures in addition to behavioral measures enable a reduction of the cancer risk caused by UV radiation. The aim must be to establish these measures nationwide for the entire population.


Subject(s)
Melanoma/prevention & control , Radiation Protection , Skin Neoplasms/prevention & control , Ultraviolet Rays/adverse effects , Environmental Exposure/prevention & control , Germany , Health Promotion , Humans , Sunlight/adverse effects , Sunscreening Agents/therapeutic use
2.
Neurobiol Aging ; 34(9): 2183-93, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23591131

ABSTRACT

Inhibitory deficits contribute to cognitive decline in the aging brain. Separating subcomponents of response inhibition may help to resolve contradictions in the existing literature. A total of 49 healthy participants underwent functional magnetic resonance imaging (fMRI) while performing a Go/no-go-, a Simon-, and a Stop-signal task. Regression analyses were conducted to identify correlations of age and activation patterns. Imaging results revealed a differential effect of age on subcomponents of response inhibition. In a simple Go/no-go task (no spatial discrimination), aging was associated with increased activation of the core inhibitory network and parietal areas. In the Simon task, which required spatial discrimination, increased activation in additional inhibitory control regions was present. However, in the Stop-signal task, the most demanding of the three tasks, aging was associated with decreased activation. This suggests that older adults increasingly recruit the inhibitory network and, with increasing load, additional inhibitory regions. However, if inhibitory load exceeds compensatory capacity, performance declines in concert with decreasing activation. Thus, the present findings may refine current theories of cognitive aging.


Subject(s)
Aging/physiology , Aging/psychology , Brain/pathology , Brain/physiopathology , Cognition Disorders/etiology , Cognition Disorders/psychology , Inhibition, Psychological , Adult , Aged , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neuropsychological Tests , Reaction Time , Young Adult
3.
Am J Med Genet ; 103(1): 56-62, 2001 Sep 15.
Article in English | MEDLINE | ID: mdl-11562935

ABSTRACT

We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.


Subject(s)
Chromosomes, Human, Pair 7/genetics , Nuclear Proteins , Transcription Factors/genetics , Trisomy , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adolescent , Child , Fingers/abnormalities , Growth Disorders/pathology , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male , Microcephaly/pathology , Phenotype , Toes/abnormalities , Translocation, Genetic , Twist-Related Protein 1 , Y Chromosome/genetics
4.
Am J Med Genet ; 102(3): 286-92, 2001 Aug 15.
Article in English | MEDLINE | ID: mdl-11484209

ABSTRACT

Although clinical features in Kabuki syndrome (KS; Niikawa-Kuroki syndrome) have been well defined, the underlying genetic mechanism still remains unclear. We report a 9-year-old girl with typical KS-like facial appearance, skeletal and dermatoglyphic abnormalities, severe mental retardation, and growth deficiency. In 60 of 100 GTG-banded metaphases from peripheral blood lymphocytes, a ring chromosome smaller than a G group chromosome was found, which, according to reverse painting, consisted of Xq11.1q13. The proband's karyotype was described as mos45,X/46,X,+r(X). Several loci were analyzed with fluorescence in situ hybridization (FISH) and microsatellite markers revealing that one r(X) breakpoint mapped proximal to DXS422 (Xp11.21) and the second mapped distal to XIST gene, between loci DXS128E and DXS441 (Xq13.2). Uniparental disomy for X and r(X) was excluded and the paternal origin of r(X) was identified. XIST expression was demonstrated by nested reverse transcription polymerase chain reaction (RT-PCR) using primers spanning exons 5, 6i, and 6 in RNA prepared from lymphocytes. The observation of XIST expression is in contrast to two other cases in which the XIST gene was either not present on r(X) or not expressed. To our knowledge, this is the first case of Kabuki-like syndrome manifestations with r(X) and XIST expression.


Subject(s)
Abnormalities, Multiple/genetics , Craniofacial Abnormalities/pathology , Intellectual Disability/pathology , RNA, Untranslated/genetics , Ring Chromosomes , Transcription Factors/genetics , X Chromosome/genetics , Abnormalities, Multiple/pathology , Child , Chromosome Banding , Cytogenetic Analysis , Female , Gene Expression , Growth Disorders/pathology , Humans , In Situ Hybridization, Fluorescence , Microsatellite Repeats , RNA, Long Noncoding , Syndrome
5.
J Struct Biol ; 131(2): 96-107, 2000 Aug.
Article in English | MEDLINE | ID: mdl-11042080

ABSTRACT

The Omp21 protein from the proteobacterium Comamonas (Delftia) acidovorans belongs to the recently described beta8 family of outer membrane proteins, characterized by eight antiparallel beta-strands which form a beta-barrel. This family includes virulence proteins, OmpA and OmpX from Escherichia coli, and other related molecules. After we established an expression system, recombinant Omp21 was purified by Ni(2+) chelation affinity chromatography and refolded in situ while bound to resin. The native state of refolded protein was proven by FTIR spectroscopy and monitored with denaturing PAGE (heat modification). Both native and recombinant Omp21 were reconstituted in lipid membranes and crystallized two-dimensionally by controlled dialysis. Recombinant Omp21 crystallized as dimer and formed a p22(1)2(1) lattice with constants of a = 11.1 nm, b = 12.2 nm, gamma = 89.5 degrees. The 3-D structure of negatively stained, recombinant Omp21 was determined at a resolution of 1.8 nm by means of electron crystallography. Comparison with 3-D maps of OmpX and the transmembrane domain of OmpA revealed a high similarity between the mass distribution of exoplasmic loops of Omp21 and OmpA.


Subject(s)
Bacterial Outer Membrane Proteins/chemistry , Bacterial Outer Membrane Proteins/ultrastructure , Delftia acidovorans/chemistry , Bacterial Outer Membrane Proteins/genetics , Bacterial Outer Membrane Proteins/isolation & purification , Cloning, Molecular , Crystallization , Crystallography , Delftia acidovorans/genetics , Dimerization , Escherichia coli , Image Processing, Computer-Assisted , Microscopy, Electron , Protein Conformation , Protein Folding , Protein Renaturation , Recombinant Proteins/chemistry , Recombinant Proteins/isolation & purification , Recombinant Proteins/ultrastructure , Spectroscopy, Fourier Transform Infrared
6.
Cytogenet Cell Genet ; 91(1-4): 208-11, 2000.
Article in English | MEDLINE | ID: mdl-11173858

ABSTRACT

Molecular cytogenetic investigation of a male proband showing oligozoospermia (OAT I-II degrees ) has led to the detection of a Y-chromosome mosaicism. This mosaicism consists of a deleted Y chromosome with deletion of most of the long-arm heterochromatin, including the PAR2, del(Y), and a Y chromosome, which, in addition to that deletion, shows a paracentric long-arm inversion, inv del(Y), with breakpoints in the DAZ gene cluster in deletion interval 6 and within the remainder of the long-arm heterochromatin of the Y. The Y mosaicism is not confined to the sterile proband but is also detected in both his father and his fertile brother. Interestingly, the percentage of inv del(Y) is highest (80%) in the proband showing oligozoospermia.


Subject(s)
Chromosome Deletion , Chromosome Inversion , Mosaicism/genetics , Oligospermia/genetics , Y Chromosome/genetics , Adult , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Lymphocytes/metabolism , Lymphocytes/pathology , Male , Nuclear Family
7.
J Bacteriol ; 180(15): 3741-9, 1998 Aug.
Article in English | MEDLINE | ID: mdl-9683466

ABSTRACT

Omp21, a minor outer membrane protein of the soil bacterium Comamonas acidovorans, was purified from a spontaneous mutant lacking a surface layer and long-chain lipopolysaccharide. Omp21 synthesis is enhanced by oxygen depletion, and the protein has a variable electrophoretic mobility in sodium dodecyl sulfate-polyacrylamide gel electrophoresis due to its heat-modifiable behavior. The structural gene omp21 encodes a precursor of 204 amino acids with a putative signal peptide of 21 amino acids. Mature Omp21 is a typical outer membrane protein with a high content of beta structure as determined by infrared spectroscopy. Sequence comparisons show that it belongs to a new outer membrane protein family, characterized by eight amphipathic beta strands, which includes virulence proteins, such as the neisserial opacity proteins, Salmonella typhimurium Rck, and Yersinia enterocolitica Ail, as well as the major outer membrane proteins OmpA from Escherichia coli and OprF from Pseudomonas aeruginosa.


Subject(s)
Bacterial Outer Membrane Proteins/chemistry , Gram-Negative Aerobic Rods and Cocci/chemistry , Gram-Negative Aerobic Rods and Cocci/metabolism , Protein Structure, Secondary , Amino Acid Sequence , Bacterial Outer Membrane Proteins/biosynthesis , Bacterial Outer Membrane Proteins/genetics , Bacterial Outer Membrane Proteins/isolation & purification , Base Sequence , Binding Sites , Escherichia coli/metabolism , Gram-Negative Aerobic Rods and Cocci/genetics , Lipopolysaccharides/biosynthesis , Molecular Sequence Data , Mutation , Pseudomonas aeruginosa/metabolism , Ribosomes/metabolism , Salmonella typhimurium/metabolism , Sequence Alignment , Sequence Homology, Amino Acid , Soil Microbiology , Yersinia enterocolitica/metabolism
8.
EMBO J ; 13(20): 4737-44, 1994 Oct 17.
Article in English | MEDLINE | ID: mdl-7957044

ABSTRACT

Mating type-specific agglutination of Saccharomyces cerevisiae a and alpha cells depends on the heterophilic interaction of two cell surface glycoproteins, the gene products of AG alpha 1 and AGA2. Evidence is presented with immunogold labelling that the alpha-agglutinin is part of the outer fimbrial cell wall coat. The a-agglutinin is bound via two S-S bridges (Cys7 and Cys50) to a cell wall component, most probably the gene product of AGA1. His273 of alpha-agglutinin has previously been shown to be essential for a- and alpha-agglutinin interaction and a model based on two opposing ion-pairs had been proposed. By site-directed mutagenesis this possibility has now been excluded. With the help of various peptides, either chemically synthesized, obtained by proteolysis of intact glycosylated a-agglutinin or prepared from a fusion protein expressed in Escherichia coli, the biologically active region of a-agglutinin was located at the C-terminus of the molecule. A peptide consisting of the C-terminal 10 amino acids (GSPIN-TQYVF) was active in nanomolar concentrations. Saccharide moieties, therefore, are not essential for the mating type-specific cell-cell interaction; glycosylated peptides are, however, four to five times more active than non-glycosylated ones. Comparisons of the recognition sequences of the S. cerevisiae agglutinins with that of the Dictyostelium contact site A glycoprotein (gp80), as well as with those of the various families of cell adhesion molecules of higher eucaryotes, have been made and are discussed.


Subject(s)
Agglutinins/physiology , Cell Adhesion/physiology , Cell Wall/metabolism , Saccharomyces cerevisiae Proteins , Saccharomyces cerevisiae/physiology , Agglutinins/genetics , Agglutinins/metabolism , Amino Acid Sequence , Base Sequence , Binding Sites , Cell Adhesion Molecules , Fungal Proteins/physiology , Mating Factor , Molecular Sequence Data , Mutagenesis, Site-Directed , Peptides/physiology , Saccharomyces cerevisiae/cytology
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