D Kaufmann

Summary

Affiliation: University of Ulm
Country: Germany

Publications

  1. ncbi The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment
    Dieter Kaufmann
    Department of Human Genetics, University of Ulm, Albert Einstein Alle 11, Ulm D 89070, Germany
    Biochem Biophys Res Commun 294:496-503. 2002
  2. ncbi Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients
    D Kaufmann
    Abteilung Humangenetik, Universitat Ulm, Germany
    Arch Dermatol Res 291:312-7. 1999
  3. ncbi Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?
    D Kaufmann
    Abteilung Humangenetik, Universitat Ulm, Albert Einstein Allee 11, D 89070 Ulm, Germany
    Eur J Dermatol 11:521-6. 2001
  4. pmc Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene
    D Kaufmann
    Departments of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 69:1395-400. 2001
  5. ncbi Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2
    Dieter Kaufmann
    Universitatsklinikum Ulm, Abteilung Humangenetik, D 89070 Ulm, Germany
    Cancer Res 62:1503-9. 2002
  6. ncbi In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons
    Dieter Kaufmann
    Department of Human Genetics, University of Ulm, Germany
    Eur J Hum Genet 12:139-49. 2004
  7. pmc Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
    S Hoffmeyer
    Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
    Am J Hum Genet 62:269-77. 1998
  8. pmc The general growth logistics of cell populations
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Albert Einstein Allee 11, 89069, Ulm, Germany
    Cell Biochem Biophys 51:51-66. 2008
  9. ncbi Stationary cell size distributions and mean protein chain length distributions of Archaea, Bacteria and Eukaryotes described with an increment model in terms of irreversible thermodynamics
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Germany
    Eur Phys J E Soft Matter 17:307-25. 2005
  10. ncbi Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2
    C Oliver Hanemann
    Department of Neurology, University of Ulm, Germany
    Arch Neurol 62:674-5. 2005

Collaborators

Detail Information

Publications23

  1. ncbi The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment
    Dieter Kaufmann
    Department of Human Genetics, University of Ulm, Albert Einstein Alle 11, Ulm D 89070, Germany
    Biochem Biophys Res Commun 294:496-503. 2002
    ..We therefore assume that NF1-10a-2 has a function on an intracellular membrane...
  2. ncbi Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients
    D Kaufmann
    Abteilung Humangenetik, Universitat Ulm, Germany
    Arch Dermatol Res 291:312-7. 1999
    ..We speculate that this regulation is involved in the formation of some NF1 symptoms, for instance in the formation of café-au-lait macules...
  3. ncbi Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?
    D Kaufmann
    Abteilung Humangenetik, Universitat Ulm, Albert Einstein Allee 11, D 89070 Ulm, Germany
    Eur J Dermatol 11:521-6. 2001
    ..We suggest that the regulation of skin temperature is also involved in the formation of NF1 dermal neurofibromas and is related to the intrafamilial variability in NF1...
  4. pmc Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene
    D Kaufmann
    Departments of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 69:1395-400. 2001
    ..We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency...
  5. ncbi Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2
    Dieter Kaufmann
    Universitatsklinikum Ulm, Abteilung Humangenetik, D 89070 Ulm, Germany
    Cancer Res 62:1503-9. 2002
    ..Therefore, we suggest that the increase in aberrant splicing caused by environmental factors represents an additional mechanism for the reduction of the amount of tumor suppressor mRNA in the absence of relevant mutations in the tumor...
  6. ncbi In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons
    Dieter Kaufmann
    Department of Human Genetics, University of Ulm, Germany
    Eur J Hum Genet 12:139-49. 2004
    ..Additional genome-wide investigations are necessary to elucidate to what extent our finding can be generalized...
  7. pmc Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
    S Hoffmeyer
    Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
    Am J Hum Genet 62:269-77. 1998
    ....
  8. pmc The general growth logistics of cell populations
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Albert Einstein Allee 11, 89069, Ulm, Germany
    Cell Biochem Biophys 51:51-66. 2008
    ..Based on these ideas, we formulate equations that describe the growth curves of all cell types, verifying that way the general nature of the growth logistics...
  9. ncbi Stationary cell size distributions and mean protein chain length distributions of Archaea, Bacteria and Eukaryotes described with an increment model in terms of irreversible thermodynamics
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Germany
    Eur Phys J E Soft Matter 17:307-25. 2005
    ..In fact, the mean course can be described with analogous relations as used above. Moreover, the master curve fits well to the patterns of different species of Archaea, Bacteria and Eukaryotes. General consequences are discussed...
  10. ncbi Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2
    C Oliver Hanemann
    Department of Neurology, University of Ulm, Germany
    Arch Neurol 62:674-5. 2005
  11. ncbi Modelling the growth of plants with a uniform growth logistics
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Albert Einstein Allee 11, 89069 Ulm, Germany Electronic address
    J Theor Biol 349:57-65. 2014
    ..The increment model has previously been used to describe the growth of plants in general. Here, we examine how the same logistics enables the development of different superstructures...
  12. doi Higher efficiency of thymine-adenine clamp-modified single-stranded oligonucleotides in targeted nucleotide sequence correction is not correlated with lower intracellular degradation
    M Wuepping
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, Ulm, Germany
    Hum Gene Ther 20:283-7. 2009
    ..We suggest that there is no direct correlation between the biological stability of the full-length oligonucleotides and the exchange rates achieved...
  13. doi Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation
    B Bartelt-Kirbach
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Neurogenetics 10:79-85. 2009
    ..Expression analysis of 13 genes of the microdeletion region in dermal neurofibromas and other tissues revealed four candidates for the modification of neurofibroma formation: CENTA2, RAB11FIP4, C17orf79, and UTP6...
  14. pmc Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction
    Ruth Diebold
    Department of Neurology, University of Ulm, Albert Einstein Allee 11, 89070 Ulm, Germany
    J Mol Diagn 7:97-104. 2005
    ..Our gene dosage assay will detect deletions of one or more exons as well as gross deletions of the whole coding region of the gene. It can complement the existing screening methods because it is faster and easier...
  15. pmc Partial Blindness to Submicron Topography in NF1 Haploinsufficient Cultured Fibroblasts Indicates a New Function of Neurofibromin in Regulation of Mechanosensoric
    D Kaufmann
    Institute of Human Genetics, University of Ulm, Ulm, Stuttgart, Germany
    Mol Syndromol 3:169-79. 2012
    ..We suggest a new function of neurofibromin in the sensoric mechanism to topographies and a partial mechanosensoric blindness by NF1 haploinsufficiency...
  16. doi On the structure-bounded growth processes in plant populations
    H G Kilian
    Abteilung Experimentelle Physik, Universitat Ulm, Albert Einstein Allee 11, 89069, Ulm, Germany
    Cell Biochem Biophys 57:87-100. 2010
    ..The reproduction of the S-bended growth curves verifies that the relaxation modes with a broad structure-controlled distribution freeze successively until finally growth is fully blocked thus bringing about "continuous solidification"...
  17. pmc Simultaneous targeted exchange of two nucleotides by single-stranded oligonucleotides clusters within a region of about fourteen nucleotides
    Heike Hegele
    Institute of Human Genetics, University of Ulm, D 89070 Ulm, Germany
    BMC Mol Biol 9:14. 2008
    ....
  18. pmc Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro
    Ralf Kemkemer
    Department of Biophysics, University of Ulm, Albert Einstein Allee 11, D 89070 Ulm, Germany
    Proc Natl Acad Sci U S A 99:13783-8. 2002
    ..We also suggest that in vivo NF1 haploinsufficiency results in an increased noise in cellular regulation and that this effect of haploinsufficiency may be found also in other tumor suppressors...
  19. doi Differences in uptake, localization, and processing of PNAs modified by COX VIII pre-sequence peptide and by triphenylphoshonium cation into mitochondria of tumor cells
    Markus Lamla
    Research Group Chemical Function in Biosystems, University of Ulm, Albert Einstein Allee 11, D 89081 Ulm, Germany
    Drug Deliv 17:263-71. 2010
    ..If a matrix localization of the free PNA is a pre-requisite for the PNA interaction with mitochondrial DNA, the coupling PNA with an appropriate peptide seems to be the better strategy...
  20. ncbi Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1
    Anne Katrin Detjen
    Department of Neuropediatrics, Charite, University Medical Center, Berlin, Germany
    Twin Res Hum Genet 10:486-95. 2007
    ..The phenotypic discordance of MZ twins with NF1 cannot be explained by skewed distribution of mtDNA mutations or polymorphisms...
  21. ncbi Role of NF2 haploinsufficiency in NF2-associated polyneuropathy
    Clemens O Hanemann
    Clinical Neurobiology, Inst Biomedical and Clinical Science, Peninsula Medical School, The John Bull Building, Tamar Science Park, Research Way, Plymouth PL6 8BU, UK
    Brain Pathol 17:371-6. 2007
    ..Thus, we suggest that reduced merlin gene dosage is relevant in NF2-associated polyneuropathy...
  22. ncbi Cell shape normalization, dendrite orientation, and melanin production of normal and genetically altered (haploinsufficient NF1)-melanocytes by microstructured substrate interactions
    Simon Jungbauer
    University of Heidelberg, Biophysical Chemistry, Institute for Physical Chemistry, Im Neuenheimerfeld 253 69120 Heidelberg, Germany
    Chemphyschem 5:85-92. 2004
    ..In both cases, the interaction with microstripes enhanced melanin production significantly. This enhanced melanin production is speculated to be caused by the mechanical stabilization of the dendrites by substrate guidance...
  23. ncbi Segmental neurofibromatosis
    Erwin S Schultz
    Department of Dermatology, University of Erlangen Nuremberg, Germany
    Dermatology 204:296-7. 2002
    ..These data are in line with the concept that NF1 mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation...