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54. Gen-Amplifikation von SOX2 und FGFR1 in sinunasalen Karzinomen

Author

Schröck, A, Göke, F, Franzen, A, Menon, R, Boehm, D, Vogel, W, Perner, S, and Bootz, F

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Einleitung: Sinunasale Malignome sind selten und unterscheiden sich hinsichtlich verursachender Noxen und klinischem Verlauf wesentlich von anderen Karzinomen des Kopf-Hals Bereiches. Daher gilt es zu untersuchen, ob die bereits in Plattenepithelkarzinomen der Mundhöhle nachgewiesenen Genamplifikationen[for full text, please go to the a.m. URL], 83. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie

Published
2012
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57. Targeted Disruption of the Mouse textitNpal3 Gene Leads to Deficits in Behavior, Increased IgE Levels, and Impaired Lung Function

Author

Grzmil, P., Konietzko, J., Boehm, D., Hoelter, S. M., Aguilar, A., Javaheri, A., Kalaydjiev, S., Adler, T., Bolle, I., Adham, I., Dixkens, C., Wolf, S., Fuchs, H., Gailus-Durne, V., Wurst, W., Ollert, M., Busch, D., Schulz, H., Hrabe de Angelis, M., and Burfeind, P.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Atopic disease, Behavior, Immune system, Npal3+<%2Fitalic>knockout+mice%22">Npal3 knockout mice, Phenotypic analyses, ddc
Abstract

The non-imprinted in Prader-Willi/Angelman syndrome (NIPA) proteins are highly conserved receptors or transporters. Translocation of NIPA genes were found in patients with Prader-Willi syndrome, and loss-of-function of the NIPA1 gene was identified in hereditary spastic paraplegia. The family of NIPA-like domain containing (NPAL) proteins is closely related to the NIPA proteins, but to date nothing is known about their function. Here, we could demonstrate that both human NPAL3 and mouse Npal3 are ubiquitously expressed and encode highly conserved proteins. To further elucidate the function of the Npal3 gene, knockout (Npal3–/–) mice were generated. Intensive phenotypic analyses revealed that disruption of the Npal3 gene results in a pleiotropic phenotype. The function of the nervous system was impaired in both mutant males and females which could be demonstrated in behavioral tests. In addition, in Npal3 mutants the number of NK cells was decreased and changes in IgM, IgG2, and IgA were observed, indicating that the immune system is also affected. Interestingly, increased IgE levels as well as impaired lung functions were observed in mutant males but not in mutant females. It should be noted that the human NPAL3 gene is located at 1p36.12→p35.1, and atopic diseases were previously linked to this genomic region. Thus, the Npal3–/– mice could serve as a valuable model system for studying atopic diseases.

Published
2008

59. SALL4 deletions are a common cause of Okihiro and acrorenal- ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Author

Becker, K, Clayton-Smith, J, Borozdin, W, Boehm, D, Lehipoldt, M, Wilhelm, C, Reardon, W, Winter, R, Muhlendyck, H, Giray Bozkaya, Özlem, Kohlhase, J, and Silan, F

Abstract

The SALL genes, similar to the Drosophila gene spalt,1probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes, 2 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607323).4 5 SALL26 and SALL37 have not yet been associated with human disease.

Published
2004

66. Assessing stress responses to atmospheric cold plasma exposure using Escherichia coli knock-out mutants.

Author

Han, L., Boehm, D., Patil, S., Cullen, P.J., and Bourke, P.

Subjects
*ESCHERICHIA coli, *LOW temperature plasmas, *MOLECULAR genetics, *HEREDITY, *REACTIVE oxygen species
Abstract

Aims This study investigated the effect of atmospheric cold plasma (ACP) exposure-induced stress on microbial inactivation patterns and the regulation of genes involved in the microbial stress response in conjunction with key processing parameters of exposure time and post-treatment storage time. Methods and Results Cell suspensions of Escherichia coli BW 25113 and its isogenic knock-out mutants in rpoS, soxR, soxS, oxyR and dnaK genes were treated with high-voltage ACP in a sealed package for 1, 3 and 5 min followed by 0-, 1- and 24-h post-treatment storage. Reactive oxygen species (ROS) densities and colony formation were determined. ΔrpoS strain showed higher microbial reduction and greater cell permeability than other mutants, while ΔoxyR only showed this effect after 5 min of treatment. With increased post-treatment storage time, ΔsoxS and ΔsoxR had increased sensitivity and resistance respectively. ΔdnaK cell suspensions had much higher ROS than other strains and showed increased sensitivity with 24 h post-treatment storage. Conclusions RpoS and oxyR genes have both short-term and long-term regulatory effects under plasma stress. However, knocking out dnaK gene had an immediate response on ROS scavenging and long-term repairing mechanisms. ΔsoxR and ΔsoxS had different responses to ACP treatment with the increase in post-treatment time in relation to clearance of reactive species implying the different characteristics and functions as subunits. Significance and Impact of the Study By comparing the response of mutants under ACP exposure to key processing parameters, the mechanism of microbial inactivation was partly revealed with respect to cellular regulation and repairing genes. [ABSTRACT FROM AUTHOR]

Published
2016
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71. Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders

Author

Prokisch⁎, H., primary, Haack, T., additional, Madignier, F., additional, Danhauser, K., additional, Haberberger, B., additional, Freisinger, P., additional, Rolinski, B., additional, Horvath, R., additional, Mayr, H., additional, Sperl, W., additional, Tesarova, M., additional, Biskup, S., additional, Boehm, D., additional, Tiranti, V., additional, Giovanetti, A., additional, Garavalgia, B., additional, Zeviani, M., additional, and Meitinger, T., additional

Published
2011
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91. Targeted Disruption of the Mouse Npal3 Gene Leads to Deficits in Behavior, Increased IgE Levels, and Impaired Lung Function

Author

Grzmil, P., primary, Konietzko, J., additional, Boehm, D., additional, Hoelter, S.M., additional, Aguilar, A., additional, Javaheri, A., additional, Kalaydjiev, S., additional, Adler, T., additional, Bolle, I., additional, Adham, I., additional, Dixkens, C., additional, Wolf, S., additional, Fuchs, H., additional, Gailus-Durne, V., additional, Wurst, W., additional, Ollert, M., additional, Busch, D., additional, Schulz, H., additional, Hrabe de Angelis, M., additional, and Burfeind, P., additional

Published
2009
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