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Dieter Kaufmann

Research Profile

Disorders

Neurofibromatosis 1

Chemicals & Drugs

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Publications

TOP 3
Dieter Kaufmann; L Deeg; J Hoesch; K Mellert; Joachim P Spatz; Y Su; Ralf Kemkemer
Partial Blindness to Submicron Topography in NF1 Haploinsufficient Cultured Fibroblasts Indicates a New Function of Neurofibromin in Regulation of Mechanosensoric.
Juergen Klingler; Dieter Kaufmann
Polypropylenimine generation four: a suitable vector for targeted gene alteration in vitro.
Ditta Zobor; Dieter Kaufmann; Alexandra Sauer; Petra Weckerle; Helmut Wilhelm; Bernd Wissinger; Susanne Kohl
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

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All Publications

2012: Dieter Kaufmann; L Deeg; J Hoesch; K Mellert; Joachim P Spatz; Y Su; Ralf Kemkemer
Partial Blindness to Submicron Topography in NF1 Haploinsufficient Cultured Fibroblasts Indicates a New Function of Neurofibromin in Regulation of Mechanosensoric.
Molecular syndromology 2012;3(4):169-79.
2012: Juergen Klingler; Dieter Kaufmann
Polypropylenimine generation four: a suitable vector for targeted gene alteration in vitro.
Journal of drug targeting 2012;20(5):474-80.
2012: Ditta Zobor; Dieter Kaufmann; Alexandra Sauer; Petra Weckerle; Helmut Wilhelm; Bernd Wissinger; Susanne Kohl
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.
Ophthalmic genetics 2012;33(1):34-8.
2012: Kevin Mellert; Klaus Scheffzek; Rainer Wittig; Markus Lamla; Dieter Kaufmann
Enhancing endosomal escape of transduced proteins by photochemical internalisation.
PloS one 2012;7(12):e52473.
2011: Jasmin T Zahn; Ilia Louban; Simon Jungbauer; Martin Bissinger; Dieter Kaufmann; Ralf Kemkemer; Joachim P Spatz
Age-dependent changes in microscale stiffness and mechanoresponses of cells.
Small (Weinheim an der Bergstrasse, Germany) 2011;7(10):1480-7.
2011: Stefan Welti; Sonja Kühn; Igor D'Angelo; Britta Brügger; Dieter Kaufmann; Klaus Scheffzek
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
Human mutation 2011;32(2):191-7.
2011: Michael Uhl; Martin Deibler; Ralf Kemkemer; Markus Lamla; Kevin Mellert; Joachim P Spatz; Britta Striegl; Dieter Kaufmann
Cyclic stretch increases splicing noise rate in cultured human fibroblasts.
BMC research notes 2011;4():470.
2010: Anja Harder; Sabrina Titze; Lena Herbst; Thomas Harder; Katrin Guse; Sigrid Tinschert; Dieter Kaufmann; Thorsten Rosenbaum; Victor-Felix Mautner; Elke Windt; Ute Wahlländer-Danek; Katharina Wimmer; Stefan Mundlos; Hartmut Peters
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2010;13(6):582-94.
2010: H G Kilian; Marian Kazda; F Király; Dieter Kaufmann; Ralf Kemkemer; Detlef Bartkowiak
On the structure-bounded growth processes in plant populations.
Cell biochemistry and biophysics 2010;57(2-3):87-100.
2010: Markus Lamla; Hartmut Seliger; Dieter Kaufmann
Differences in uptake, localization, and processing of PNAs modified by COX VIII pre-sequence peptide and by triphenylphoshonium cation into mitochondria of tumor cells.
Drug delivery 2010;17(4):263-71.
2009: M Wuepping; Oliver Kenner; H Hegele; S Schwandt; Dieter Kaufmann
Higher efficiency of thymine-adenine clamp-modified single-stranded oligonucleotides in targeted nucleotide sequence correction is not correlated with lower intracellular degradation.
Human gene therapy 2009;20(3):283-7.
2009: B Bartelt-Kirbach; M Wuepping; M Dodrimont-Lattke; Dieter Kaufmann
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.
Neurogenetics 2009;10(1):79-85.
2008: H G Kilian; Detlef Bartkowiak; Dieter Kaufmann; Ralf Kemkemer
The general growth logistics of cell populations.
Cell biochemistry and biophysics 2008;51(2-3):51-66.
2008: Heike Hegele; Matthias Wuepping; Caroline Ref; Oliver Kenner; Dieter Kaufmann
Simultaneous targeted exchange of two nucleotides by single-stranded oligonucleotides clusters within a region of about fourteen nucleotides.
BMC molecular biology 2008;9():14.
2007: C Oliver Hanemann; Ruth Diebold; Dieter Kaufmann
Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.
Brain pathology (Zurich, Switzerland) 2007;17(4):371-6.
2007: Anne Detjen; Sigrid Tinschert; Dieter Kaufmann; Bernd Algermissen; Peter Nürnberg; Markus Schuelke
Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2007;10(3):486-95.
2006: Ralf Kemkemer; Simon Jungbauer; Dieter Kaufmann; Hans Gruler
Cell orientation by a microgrooved substrate can be predicted by automatic control theory.
Biophysical journal 2006;90(12):4701-11.
2005: H G Kilian; Hans Gruler; Detlef Bartkowiak; Dieter Kaufmann
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.
The European physical journal. E, Soft matter 2005;17(3):307-25.
2005: C Oliver Hanemann; Katherine Kaempchen; Dieter Kaufmann; Bernd J Krause
Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2.
Archives of neurology 2005;62(4):674-5.
2005: Ruth Diebold; Britta Bartelt-Kirbach; D Gareth Evans; Dieter Kaufmann; C Oliver Hanemann
Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.
The Journal of molecular diagnostics : JMD 2005;7(1):97-104.
2004: Oliver Kenner; Anna Lutomska; Günter Speit; Walther Vogel; Dieter Kaufmann
Concurrent targeted exchange of three bases in mammalian hprt by oligonucleotides.
Biochemical and biophysical research communications 2004;321(4):1017-23.
2004: Dieter Kaufmann; Oliver Kenner; Peter Nurnberg; Walther Vogel; Britta Bartelt
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons.
European journal of human genetics : EJHG 2004;12(2):139-49.
2004: Simon Jungbauer; Ralf Kemkemer; Hans Gruler; Dieter Kaufmann; Joachim P Spatz
Cell shape normalization, dendrite orientation, and melanin production of normal and genetically altered (haploinsufficient NF1)-melanocytes by microstructured substrate interactions.
Chemphyschem : a European journal of chemical physics and physical chemistry 2004;5(1):85-92.
2002: Oliver Kenner; Andrea Kneisel; Jürgen Klingler; Britta Bartelt; Günter Speit; Walther Vogel; Dieter Kaufmann
Targeted gene correction of hprt mutations by 45 base single-stranded oligonucleotides.
Biochemical and biophysical research communications 2002;299(5):787-92.
2002: Ralf Kemkemer; Stephanie Schrank; Walther Vogel; Hans Gruler; Dieter Kaufmann
Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13783-8.
2002: Dieter Kaufmann; Ralf Müller; Oliver Kenner; Werner Leistner; Christian Hein; Walther Vogel; Britta Bartelt
The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment.
Biochemical and biophysical research communications 2002;294(2):496-503.
2002: Dieter Kaufmann; Werner Leistner; Petra Kruse; Oliver Kenner; Sven Hoffmeyer; Christian Hein; Walther Vogel; Ludwine MESSIAEN; Britta Bartelt
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
Cancer research 2002;62(5):1503-9.
2002: Erwin S Schultz; Dieter Kaufmann; Sigrid Tinschert; Hermann Schell; Peter von den Driesch; Gerold Schuler
Segmental neurofibromatosis.
Dermatology (Basel, Switzerland) 2002;204(4):296-7.
2001: Dieter Kaufmann; Ralf Müller; Britta Bartelt; Michael Wolf; Karin Kunzi-Rapp; C Oliver Hanemann; R Fahsold; Christian Hein; Walther Vogel; Günter Assum
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
American journal of human genetics 2001;69(6):1395-400.
2001: Dieter Kaufmann; Sigrid Tinschert; Bernd Algermissen
Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?
European journal of dermatology : EJD 2001;11(6):521-6.
2000: Sigrid Tinschert; I Naumann; E Stegmann; Annegret Buske; Dieter Kaufmann; G Thiel; Dieter E Jenne
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
European journal of human genetics : EJHG 2000;8(6):455-9.
2000: R Fahsold; Sven Hoffmeyer; Claudia Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; Andreas Gewies; Hartmut Peters; Dieter Kaufmann; Annegret Buske; Sigrid Tinschert; Peter Nürnberg
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
American journal of human genetics 2000;66(3):790-818.
1999: Dieter Kaufmann; I Junge; Britta Bartelt; H Lattke; Ralf Müller
On the lysosomal degradation of neurofibromin and its phosphorylation in cultured melanocytes.
Biological chemistry 1999;380(9):1071-8.
1999: Dieter Kaufmann; Britta Bartelt; Sven Hoffmeyer; Ralf Müller
Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients.
Archives of dermatological research 1999;291(6):312-7.
1999: Dieter Kaufmann; S Gruener; F Braun; M Stark; J Griesser; Sven Hoffmeyer; Britta Bartelt
EVI2B, a gene lying in an intron of the neurofibromatosis type 1 (NF1) gene, is as the NF1 gene involved in differentiation of melanocytes and keratinocytes and is overexpressed in cells derived from NF1 neurofibromas.
DNA and cell biology 1999;18(5):345-56.
1998: A Klose; Mohammad Reza Ahmadian; Markus Schuelke; Klaus Scheffzek; Sven Hoffmeyer; Andreas Gewies; F Schmitz; Dieter Kaufmann; Hartmut Peters; A Wittinghofer; Peter Nürnberg
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Human molecular genetics 1998;7(8):1261-8.
1998: A Klose; N Robinson; Andreas Gewies; Lan Kluwe; Dieter Kaufmann; Annegret Buske; Sigrid Tinschert; Hartmut Peters
Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.
Human genetics 1998;102(3):367-71.
1998: Sven Hoffmeyer; Peter Nürnberg; H Ritter; R Fahsold; Werner Leistner; Dieter Kaufmann; Winfrid Krone
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
American journal of human genetics 1998;62(2):269-77.
1997: Ingrid Eisenbarth; Günter Assum; Dieter Kaufmann; Winfrid Krone
Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from café au laitmacules of NF1 patients.
Biochemical and biophysical research communications 1997;237(1):138-41.
1997: J Griesser; Dieter Kaufmann; B Maier; R Mailhammer; P Kuehl; Winfrid Krone
Post-transcriptional regulation of neurofibromin level in cultured human melanocytes in response to growth factors.
The Journal of investigative dermatology 1997;108(3):275-80.
1996: Matthias Goebeler; Dieter Kaufmann; Eva-B Bröcker; CE Klein
Migration of highly aggressive melanoma cells on hyaluronic acid is associated with functional changes, increased turnover and shedding of CD44 receptors.
Journal of cell science 1996;109 ( Pt 7)():1957-64.
1995: A Böddrich; J Griesser; D Horn; Dieter Kaufmann; Winfrid Krone; Peter Nürnberg
Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
Biochemical and biophysical research communications 1995;214(3):895-904.
1995: Sven Hoffmeyer; Günter Assum; J Griesser; Dieter Kaufmann; Peter Nürnberg; Winfrid Krone
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
Human molecular genetics 1995;4(8):1267-72.
1995: Peter Robinson; A Böddrich; Hartmut Peters; Sigrid Tinschert; Annegret Buske; Dieter Kaufmann; Peter Nürnberg
Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
Human genetics 1995;96(1):95-8.
1995: J Griesser; Dieter Kaufmann; Ingrid Eisenbarth; C Bäuerle; Winfrid Krone
Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1).
Biological chemistry Hoppe-Seyler 1995;376(2):91-101.
1995: Ingrid Eisenbarth; Sven Hoffmeyer; Dieter Kaufmann; Günter Assum; Winfrid Krone
Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1.
Archives of dermatological research 1995;287(5):413-6.
1994: Sven Hoffmeyer; Günter Assum; Dieter Kaufmann; K Schwenk; Winfrid Krone
A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.
Human genetics 1994;94(1):97-100.
1994: Sven Hoffmeyer; Günter Assum; Dieter Kaufmann; Winfrid Krone
Unequal expression of NF1 alleles.
Nature genetics 1994;6(4):331.
1992: M Stark; Günter Assum; Dieter Kaufmann; H Kehrer; Winfrid Krone
Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.
Human genetics 1992;90(4):356-9.
1991: Dieter Kaufmann; S Wiandt; J Veser; Winfrid Krone
Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1).
Human genetics 1991;87(2):144-50.
1991: CE Klein; T Steinmayer; Dieter Kaufmann; L Weber; E B Bröcker
Identification of a melanoma progression antigen as integrin VLA-2.
The Journal of investigative dermatology 1991;96(2):281-4.
1989: Dieter Kaufmann; Winfrid Krone; R Hochsattel; R Martin
A cell culture study on melanocytes from patients with neurofibromatosis-1.
Archives of dermatological research 1989;281(7):510-3.