Publications

Here is a selection of original publications in the fields of molecular genetics, cytogenetics and immunogenetics, with the participation of our employees:

Molecular Genetics

K. Mayer, W. Ballhausen, W. Leistner, H.-D. Rott. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochim. Biophys. Acta 1502: 495-507, 2000.

J. Hass, K. Mayer, H.-D. Rott. Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE. Hum. Mutat. 16: 88 (#336 online), 2000.

K. Mayer, W. Ballhausen, H.-D. Rott . Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. Hum. Mutat. 14: 401-411, 1999.

C. Marschall, E. Lengyel, T. Nobutoh, E. Braungart, K. Douwes, A. Simon, V. Magdolen, U. Reuning, K. Degitz. UVB increases urokinase-type plasminogen activator receptor (uPAR) expression. J. Invest. Dermatol. 113(1):69-76, 1999.

H.-D. Rott, K. Mayer. Klinik und Genetik der tuberösen Sklerose. Pädiat. Prax. 56: 233-244, 1998.K. Mayer, H.-D. Rott. Molekulargenetische Diagnostik bei tuberöser Sklerose (TSC): Erfahrungen mit dem Protein Truncation Test (PTT). Medgen 10: 27-31, 1998.

C. Marschall, M. Kreimer, D. Weichart, A. Kolb, R. Hengge-Aronis. Molecular analysis of the regulation of csiD, a carbon starvation-inducible gene in Escherichia coli that is exclusively dependent on sigma s and requires activation by cAMP-CRP. J. Mol. Biol. 276(2):339-53, 1998.

C. Detter, H. Mair, H.-G. Klein, C. Georgescu, A. Welz, B Reichart. Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome. Eur. J. Cardiothorac. Surg. 13:416-423, 1998

G. Collod-Béroud, C. Béroud, L. Ades, C. Black, M. Boxer, D.J. Brock, K.J. Holman, A. de Paepe, U. Francke, U. Grau, C. Hayward, H.-G. Klein, W. Liu, L. Nuytinck, L. Peltonen, A.B. Alvarez Perez, T. Rantamäki, C. Junien, C. Boileau. Marfan Database (third edition): new mutations and new routines for the software. Nucl. Acids Res. 26:229ff, 1998.

U. Grau, H.-G. Klein, C. Detter, H. Mair, A. Welz, D. Seidel, B Reichart. A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan Syndrome (MfS). Hum. Mut. 12:137ff. Mutation in Brief # 163, 1998.

K. Mayer, T. Hieronymus, J. Castrop, H. Clevers, W. Ballhausen. Ectopic activation of lymphoid high mobility group-box transcription factor TCF-1 and overexpression in colorectal cancer cells. Int. J. Cancer 72: 625-630, 1997.

A. Muffler, M. Barth, C. Marschall, R. Hengge-Aronis. Heat shock regulation of _s turnover and the relationship between the stress responses mediated by _s and _32 in Escherichia coli. J. Bacteriol. 179:445-452, 1997.

K. Mayer, W. Ballhausen. Expression of alternatively spliced lck transcripts from the proximal promoter in colorectal cancer derived cell lines. Anticancer Res. 16: 1733-1737, 1996.

H.-G. Klein. Die Bedeutung der molekularen Genetik in der Medizin. Der Bay. Int. 15:50-58, 1996.

M. Barth, C. Marschall, A. Muffler, D. Fischer, R. Hengge-Aronis. Role for the Histone-Like Protein H-NS in Growth Phase-Dependent and Osmotic Regulation of _s and Many _s-Dependent Genes in Escherichia coli. J. Bacteriol. 177:3455-3464, 1995.

C. Marschall, R. Hengge-Aronis. Regulatory characteristics and promotor analysis of csiE, a stationary phase-inducible gene under the control of _s and cAMP-CRP complex in Escherichia coli. Mol. Microbiol. 18:175-184, 1995.

K. Mayer, E. Wolff, H. Clevers, W. Ballhausen. The human high mobility group (HMG)-box transcription factor TCF-1: novel isoforms due to alternative splicing and usage of a new exon IXA. Biochim. Biophys. Acta 1263: 169-172, 1995.

B. Vaismann, H.-G. Klein, M. Rouis, A. Berard, M.R. Kindt, G.D. Talley, S.M. Meyn, R.F. Hoyt Jr., S.M. Marcovina, J.J. Albers, J.M. Hoeg, H.B. Brewer Jr., S. Santamarina-Fojo. Overexpression of human lecithin-cholesterol acyltransferase leads to hyperalphalipo-proteinemia in transgenic mice. J. Biol. Chem. 270:12269-12275, 1995.

H.-G. Klein, N. Duverger, J.J. Albers, S. Marcovina, H.B. Brewer Jr., S. Santamarina-Fojo. In vitro expression of structural defects in the lecithin-cholesterol acyltransferase (LCAT) gene. J. Biol. Chem. 270:9443-9447, 1995.

H.-G. Klein, S. Santamarina-Fojo, N. Duverger, M. Clerc, M.F. Dumas, J.J. Albers, S. Marcovina, H.B. Brewer Jr. Fish Eye Syndrome: A molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal a-LCAT specific activity - Implications for classification and prognosis. J. Clin. Invest. 92:479-485, 1993.

C. Marschall, P. Frenzel, H. Cypionka. Influence of oxygen on sulfate reduction and growth of sulfate-reducing bacteria. Arch. Microbiol. 159:168-173, 1993.

H.-G. Klein, P. Lohse, N. Duverger, J.J. Albers, D.J. Rader, L.A. Zech, S. Santamarina-Fojo, H.B. Brewer Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (Tyr83->Stop) and LCAT (Tyr156-> Asn). J. Lipid Res. 34:49-58, 1993.

K. Mayer , I. Ansotegui, W. Ballhausen. The human lck cDNA clone YT16 is a transforming oncogene. Anticancer Res. 12: 485-8, 1992.

H.-G. Klein, P. Lohse, P.H. Pritchard, D. Bojanovski, H. Schmidt, H.B. Brewer Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase (LCAT) gene associated with the Fish Eye Syndrome. Lecithin-cholesterol acyltransferase (Thr123->Ile) and lecithin-cholesterol acyltransferase (Thr347->Met). J. Clin. Invest. 89:499-506, 1992.

Cytogenetics

Baumer, U. Wiedemann, M. Hergersberg, A. Schinzel. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Hum Mutat, Vol. 17(5), p. 423-430, 2001.

J. Weimer, M. R. Koehler, U. Wiedemann, P. Attermeyer, A. Jacobsen, M. Kiechle, W. Jonat, N. Arnold. Highly comprehensive karyotype analysis by a combination of spectral karyotyping (SKY), microdissection, and reverse painting (SKY-MD). Chromosome Res, Vol 9(5), p. 395-402, 2001.

J. Weimer, M. Kiechle, U. Wiedemann, H. Tonnies, H. Neizel, E. Ruhenstroth, A. Ovens-Raeder, N. Arnold. Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. J Med Genet, Vol 37(6), p. 442-445, 2000.

U. Zimmermann-Bär, T. Stallmach, M. Riegel, U. Wiedemann, J. C. Fauchere, F. Binkert, D. Kotzot. Wolf-Hirschhorn syndromedue to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation. Prenat Diagn, Vol 20(10), p. 847-850, 2000. 

J. Weimer, M. Kiechle, G. Senger, U. Wiedemann, A. Ovens-Raeder, S. Schuierer, M. Kautza, R. Siebert, N. Arnold, An easy and reliable procedure for the analysis of chromosomal breakpoints and marker chromosomes. Chromosome Research 7: 355-362, 1999. 

C. Walczak, U. Heinrich, O. Beringer, H. Enders: UPD 15 and CPM for trisomy 15: PWS due to increased maternal age. Med Genetik 1/99.U. Pesch, I. Chudoba, U. Heinrich, C. Backsch, K. Meister, D. Krüger, H. Enders: Characterization of a der(Y) chromosome by microdissection and reverse painting. Med Genetik 1/99.

K. Meister, I. Chudoba, U. Heinrich, C. Backsch, U. Pesch, U. Mau, H. Enders, P. Kaiser: Application of micro-FISH to characterize an ESAC and a pericentric inversion. Med Genetik 1/99. 

U. Heinrich, C. Backsch, A. Mannikainen, C. Frymire, U. Klein-Vogler, H. Enders, P. Kaiser: Discrepant short term and long term culture results after CVS. Med Genetik 1/98.

L.Lehmann, H. Zitzelsberger, A. M. Kellerer, H. Braselmann, U. Kulka, V. Georgiadou-Schumacher, T. Negele, F. Spelsberg, E. Demidchik, E. Lengfelder, M. Bauchinger. Chromosome translocations in thyroid tissues from Belarussian children exposed to radioiodine from the Chernobyl accident, measured by FISH-painting. Int J Radiat Biol, Vol. 70(5). pp 513-516. 1996 

K. Salassidis, V. Georgiadou-Schumacher, H. Braselmann, P. Muller, R. U. Peter, M. Bauchinger. Cromosome painting in highly irradiated Chernobyl victims: a follow-up study to evaluate the stability of symmetrical translokations and the influence of clonal aberrations for retrospective dose estimation. Int J Radiat Biol, Vol. 68(3). pp 257-262.

1996 M. Bauchinger, H. Braselmann, U. Kulka, R. Huber, V. Georgiadou-Schumacher. Quantification of FISH-painted chromosome aberrations after domestic radon exposure. Int J Radiat Biol, Vol. 70(6). pp 657-663. 1996

U. Heinrich, U. Klein-Vogler, C. Backsch, M. Schliephacke, M. Schneider, H. Enders, E. Wiest, P. Kaiser: Demonstration of a der(11) and a der(12) chromosome, respectively, in two related persons as a consequence of a familial translocation t(11;12) by cytogenetic analysis and FISH. Med Genetik 2/95. 

P. Rasch, U. Wiedemann, J. Wienberg, W. M. Heckl. Analysis of banded chromosomes and in situ hybridization patterns by scanning force microscopy. Proc. Natl. Acad. Sci. USA, Vol. 90, pp. 2509-2511, 1993.U. Heinrich, M. Leipoldt: Cytogenetic analysis of 15 cases of uterine leiomyomas. Abstracts der 4. Tagung der Gesellschaft für Humangenetik 1992. 

Immunogenetics

Eichler, H., Wölpl, A., Goldmann, S.F. Sample identification errors in cord blood banking. Tissue Antigens 57; 91-92, 2001 

Eichler, H., Wölpl, A., Schwarz, K., Richter, E., Goldmann, S.F. Sample identification errors observed within a study for molecular cord blood HLA typing. Infusion Therapy and Transfusion Medicine 27: 16-18, 2000

Arndt, SO., Vogt, AB., Markovic-Plese, S., Martin, R., Moldenhauer, G., Wölpl, A., Sun, Y., Schadendorf, D., Hämmerling, GJ., Kropshofer, H.: Functional HLA-DM on the surface of B cells and immature dendritic cells. Embo Journal 19, 1241-1251, 2000

Elsner, H.-A., Wölpl, A., Goldmann, S. F., Blasczyk, R. Identification of the novel allele HLA-B* 1546 which belongs to the serological B72 type: implications for bone marrow transplantation Tissue Antigens 55; 83-85, 2000

Schwarz, K., Wölpl, A., Spegel, J., Mueller, C., Goldmann, S. F. Caucasian German Normal In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki) American Society for Histocompatibility andImmunogenetics Lenexa, Kansas, USA, 1998,

S. 149 Eichler, H., Richter, E., Schwarz, K., Woelpl, A., Goldmann, S. F. Turkish Normal In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki) American Society for Histocompatibility and Immunogenetics Lenexa, Kansas, USA, 1998, S. 190-191 

Eichler, H., Richter, E., Schwarz, K., Woelpl, A., Goldmann, S. F. Caucasian German Normal. In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki)

American Society for Histocompatibility and Immunogenetics Lenexa, Kansas, USA, 1998, S. 150-151

Löffler, D., Welschof, M., Goldmann, S. F., Wölpl, A. Recognition of HLA-DR1/DRB1*0101 molecules presenting HLA-A2 derived peptides by a human recombinant antibody, Fab-5A1. European Journal of Immunogenetics 25, 339-347, 1998 

Wölpl, A., Halden,T., Kalbacher, H., Neumeyer, H., Siemoneit, K., Goldmann, S. F., Eiermann, Th. Human monoclonal antibody with T-cell-like specifity recognizes MHC class I self-peptide presented by HLA-DR1 on activated cells. Tissue Antigens 51; 258-269 1998 

Wagner, F., Simoneit, K., Wölpl, A., Flegel.: Humaner monoklonaler Antikörper gegen enzymbehandelte Erythrozyten. Beitr. Infusionsther. Transfusionsmed. Basel, Karger, 33, 40-42, 1996 

Schreiner, Th., Prochnow-Calzia, H., Maccari, B., Erne, E., Kinzler, I., Wölpl, A., Wiesneth, M. Chimerism analysis after allogenic bone marrow transplantation with nonradioactive RFLP and PCR-AFLP using the same DNA. Journal of Immunological Methods, 196, 93-96, 1996 

Wölpl, A., Toubert, A., Siemoneit, K., Eiermann, Th., Neumayer H., Goldmann, S. F. Characterization of two human IgM monoclonal antibodies reactive with HLA-B27. Tissue Antigens 46; 305 - 312, 1995 

Siemoneit, K., Cardoso, M., Koerner, K., Wölpl, A., Kubanek. Human monoclonal antibodies for the immunological characterization of a highly conserved protein domain of the hepatitis C virus glycoprotein E1. Clin. Exp. Immunol. 101, 278-283, 1995 

Siemoneit, K., Cardoso, M., Wölpl, A., Epple, S., Wintersinger, H., Koerner, K., Kubanek, K. Isotype-specific immune response to a sigle hepatits C virus core epitope defined by a human monoclonal antibody: diagnostic value and correlation to PCR. Ann Hematol, 69, 129-133, 1994 

Wölpl, A., Fischer, M., Eiermann, Th., Goldmann, S. F. Vergleich der HLA-Typisierungs- und Retypisierungsdaten bei Patienten mit Knochenmarktransplantation. Beitr. Infusionsther. Transfusionsmed. 32; 266 - 269, 1994 

Siemoneit, K., Cardoso, M., Wölpl, A., Koerner, K., Kubanek,.K. Isolation and epitope characterization of human monoclonal antibodies to Hepatitis C virus core antigen. Hybridoma 13, 9-13, 1994

Siemoneit, K., Wölpl, A., Wegener, S., Ernst, M., Sonneborn, H.-H., Goldmann, S. F. Generation and characterization of a human monoclonal IgG antibody specific for HLA-B12. Tissue Antigens 44; 25 - 33, 1994 

Eiermann, Th., Ballas, M., Fakler, J., Müller, C., Wölpl, A., Goldmann, S. F. Selection of unrelated bone marrow donors: Does the current procedure warrant complete MHC class II identity? Beitr. Infusionsther. 30; 320 - 323, 1992 

Knobloch, C., Wölpl, A., Ballas, M., Friedrich, W., Goldmann, S. F. HLA class II recognition of T cells differentiated in HLA semiallogeneic environment following bone marrow transplantation for severe combined immunodeficiency. HLA 1991, Vol. II (Editors: Tsuji, K., Aizawaam M., Sasazuki, T.), Oxford University Press, Oxford, New York, Tokyo; 449 - 451, 1992 

Eiermann, Th., Ballas, M., Fakler, J., Wölpl, A., Goldmann, S. F. Selection of unrelated marrow donors: Does the current procedure warrant complete MHC class II identity? Infusionstherapie 19; 127 - 129, 1992 

Ballas, M., Eiermann, Th., Wölpl, A., Goldmann, S. F. Mapping of an HLA-DRw52-associated determinant on DRb1 molecules. Tissue Antigens 36; 187 - 193, 1990 

Goldmann, S. F., Eiermann, Th., Wölpl, A., Ballas, M. Mapping of an HLA-DRw52 associated determinant on DRb1 molecules. In: Visuals of the Clinical Histocompatibility Workshop (Editor: Terasaki, P.) One Lambda Inc., Los Angeles; 194 -195, 1990 

Goldmann, S. F., Ballas, M., Eiermann, Th., Wölpl, A. Discrimination capacity of class II RFLP patterns in unrelated HLA-A, B, DR identical patient donor combinations. In: Visuals of the Clinical Histocompatibility Workshop (Editor: Terasaki, P.) One Lambda Inc., Los Angeles; 88 - 92, 1990 

Eiermann, Th., Winkelmann, S., Ballas, M., Wölpl, A., Goldmann, S. F. Alloreactive T-cell clones raised in an HLA-B/D crossing over family dissect HLA-DR5 and HLA-DQw3 subtypes. Human Immunology 29; 117-130, 1990 

Wölpl, A., Ballas, M., Eiermann, Th., Martin, R., Grosse-Wilde, H., Goldmann, S. F. DRw15 associated MLC heterozygousity confirmed by RFLP typing. In: European Histocompatibility conference, Council of Europe, Strasbourg; 190a - 190c, 1990 

Ballas, M., Wölpl, A., Eiermann, Th., Knobloch, C., Goldmann, S. F. HLA-Class II typing by RFLP and protein chemistry reveal discrepances relevant in unrelates donor bone marrow transplantation. In: European Histocompatibility Conference, Council of Europe, Strasbourg; 86a - 86c, 1990 

Eiermann, Th., Winkelmann, S., Ballas, M., Wölpl, A., Goldmann, S. F. Alloreactive T cell clones raised in an HLA-B/D crossing over family dissect HLA-DR5 and HLA-DQw3 subtypes. In: European Histocompatibility Conference, Council of Europe, Strasbourg; 28a - 28c, 1990 

Ballas, M., Eiermann, Th., Wölpl, A., Goldmann, S. F. The allelic determinants HLA-DR3 and HLA-DR5 and the supertypic determinant HLA-DRw52 may be located on the same DRb chain. In: Immunbiology of HLA, Vol. II (Editor: Dupont, B.), Springer Verlag New York, 263, 1989;

Eiermann, Th., Wölpl, A., Ballas, M., Heinz, W., Arnold, R., Heit, W., Goldmann, S. F. Risk factors for GvhD and Graft Rejection in Bone Marrow Transplantation from HLA identical siblings. Bone Marrow Transplantation 4 (Suppl. 2); 116, 1989 

Eiermann, Th., Krause, S., Wölpl, A., Ballas, M., Goldmann, S. F. Monoclonal antibody to a supertypic determinant associated with HLA-DRw52. Hybirdoma 8; 467-474, 1989 

Steuer, M., Mauff, G., Adam, C., Baur, M. P., Bender, K., Goetz, J., Goldmann, S. F., Hauptmann, G., Neugebauer, M., Tongio, M. M., Uring-Lambert, B., Wölpl, A. An estimate on the frequency of duplicated haplotypes and silent alleles of hum C4 protein polymorphism. I. Investigation in healthy Caucasoid families. Tissue Antigens 33, 501-510, 1989

A. Wölpl, Goldmann, S. F., Eiermann, Th., Arnold, R. Die Bedeutung der Klasse III und GLO-Allele bei der Auswahl von HLA-identischen Knochenmarkspendern. In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 326 - 328, 1987 

Goldmann, S. F., Ebell, W., Blütters-Sawatzki, R., Eiermann, Th., Kreth, W., Wölpl, A., Friedrich, W. Graft versus Host Reaktion (GvHR) nach perinataler maternofetaler Transfusion bzw. nach Substitution mit Blutzellen: Der diagnostische Wert der HLA-Testung. In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 321 - 325, 1987 

Goldmann, S. F., Wölpl, A., Eiermann, Th. Erfahrungen bei der Suche eines histokompatiblen Knochenmarkspenders in der Familie und in der nichtverwandten Bevölkerung In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 305 - 309, 1987

Eiermann, Th., Raghachavar, A., Wölpl, A., Ballas, M., Fischer, M., Goldmann, S. F. Generation and characterization of three new monoclonal antibodies detecting the allospecifities HLA-A2, w69, HLA-A3 and HLA-B13. Tissue Antigens 29; 201 - 207, 1987 

A. Wölpl, Goldmann, S. F., Eiermann, Th., Arnold, R. Discrimination value of class III and glyoxalase alleles for selection of histocompatible bone marrow donors. Transplantation Proceedings 19; 2632 - 2635,

1987 Eiermann, Th., Martin, A., Wölpl, A., Goldmann, S. F. Evidence for a lymphocyte activation determinant coded by the HLA-region different from HLA-DR, DQ and DP. Transplantation Proceedings 19; 866 - 869, 1987 

Wölpl, A., Lattke, H., Board, P. G., Arnold, R., Schmeiser, T., Kubanek, B., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Coagulation factor XIII A and B subunits in bone marrow and liver transplantation. Transplantation 43; 151 - 153, 1987

Wölpl, A., Lattke, H., Arnold, R., Schmeiser, T., Kubanek, B., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Site of synthesis of different molecules can be detected after organ transplantation. Transplantation Proceedings 18; 1343 - 1346, 1986 

Wölpl, A., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Fourth component of complement (C4) polymorphism in human orthotopic liver transplantation.Transplantation 40; 154 - 157, 1985 

Northoff, H., Wölpl, A., Brewersdorf, H., Faulhaber, JD. An ABO-Blood group abnormality leading to the detection of a Colon-Carcinoma. Blut 46, 161-164, 1983 

Wölpl, A., Goldmann, S. F. Definition of three monocyte specific antigens with human alloantisera. Transplantation Proceedings 15; 232 - 237, 1983