Jurgen Kohlhase

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
    Jurgen Kohlhase
    Institute for Human Genetics and Anthropology, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 26:176-83. 2005
  2. pmc Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    BMC Med Genet 9:88. 2008
  3. ncbi request reprint Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
    Wiktor Borozdin
    Praxis für Humangenetik, Freiburg, Germany
    Hum Mutat 28:830. 2007
  4. doi request reprint Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
    Sheila Unger
    Institute of Human Genetics, University of Freiburg, Freiburg, D 79106 Freiburg, Germany
    Nat Genet 40:287-9. 2008
  5. ncbi request reprint Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:975-6. 2006
  6. ncbi request reprint SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:1904-8. 2006
  7. ncbi request reprint Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 28:204-5. 2007
  8. pmc Sall1, sall2, and sall4 are required for neural tube closure in mice
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Pathol 173:1455-63. 2008
  9. ncbi request reprint SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Biochem Biophys Res Commun 348:898-907. 2006
  10. doi request reprint Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
    Gerlind Franke
    Department of Nephrology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 30:776-86. 2009

Collaborators

Detail Information

Publications18

  1. ncbi request reprint SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
    Jurgen Kohlhase
    Institute for Human Genetics and Anthropology, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 26:176-83. 2005
    ..This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects...
  2. pmc Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    BMC Med Genet 9:88. 2008
    ..In this study we present our functional analyses of the novel and unusual c.1333delC mutation found in a patient with classical HOS...
  3. ncbi request reprint Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
    Wiktor Borozdin
    Praxis für Humangenetik, Freiburg, Germany
    Hum Mutat 28:830. 2007
    ..Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations...
  4. doi request reprint Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
    Sheila Unger
    Institute of Human Genetics, University of Freiburg, Freiburg, D 79106 Freiburg, Germany
    Nat Genet 40:287-9. 2008
    ..Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome...
  5. ncbi request reprint Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:975-6. 2006
    ..In addition, we also present eight novel TBX5 mutations (three nonsense, one splice mutation, four short deletions) as detected by direct sequencing in 21 families not previously analyzed for mutations...
  6. ncbi request reprint SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:1904-8. 2006
    ..The mean paternal age at conception was 29.9 and the mean maternal age 26.5 years. We conclude that de novo mutations in SALL1 mostly occur on the paternally derived chromosome 16 without an obvious age effect...
  7. ncbi request reprint Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 28:204-5. 2007
    ..The latter is associated with anal, ear, hand, and renal manifestations, indicating that the glutamine-rich domain is not required for typical TBS...
  8. pmc Sall1, sall2, and sall4 are required for neural tube closure in mice
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Pathol 173:1455-63. 2008
    ..We therefore suggest a fundamental and redundant function of the Sall proteins in murine neurulation, with the heterozygous loss of a particular SALL protein also possibly compensated in humans during development...
  9. ncbi request reprint SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Biochem Biophys Res Commun 348:898-907. 2006
    ..Mutation of the TCF/LEF-binding site resulted in decreased promoter activation. Our results demonstrate for the first time the direct regulation of a SALL gene by the canonical Wnt signaling pathway...
  10. doi request reprint Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
    Gerlind Franke
    Department of Nephrology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 30:776-86. 2009
    ....
  11. ncbi request reprint Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:211-2. 2006
    ..It therefore seems that there is a different contribution of SALL1 gene function to mouse and human embryonic development...
  12. doi request reprint Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    J Med Genet 48:450-7. 2011
    ..The objective of this study is comprehensive genotype-phenotype analysis in JEB-other patients with COL17A1 mutations and elucidation of disease mechanisms underlying different skin phenotypes...
  13. ncbi request reprint Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide
    Jurgen Kohlhase
    Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany
    Birth Defects Res A Clin Mol Teratol 70:550-1. 2004
  14. ncbi request reprint SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 26:282. 2005
    ....
  15. ncbi request reprint Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression
    Johann Böhm
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Biochem Biophys Res Commun 356:773-9. 2007
    ..Furthermore, using luciferase reporter gene assays we demonstrate that Sall4 operates as a transcriptional repressor located to heterochromatin and that this activity is modulated by Cyclin D1...
  16. ncbi request reprint Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:1880-6. 2006
  17. doi request reprint Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 32:1204-12. 2011
    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications...
  18. ncbi request reprint Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient
    Kerstin N Walter
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:649-51. 2006