K Frei

Summary

Affiliation: University of Vienna
Country: Austria

Publications

  1. ncbi request reprint Expression and function of sialoadhesin in rat alveolar macrophages
    K Frei
    Institute of Histology and Embryology, University of Vienna, Schwarzspanierstrasse 17, A 1090, Vienna, Austria
    Immunol Lett 71:167-70. 2000
  2. ncbi request reprint Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
    Klemens Frei
    Department of Otorhinolaryngology, AKH 8J, Wahringer Gurtel 18 20, Vienna, Austria, A 1090
    Eur J Hum Genet 10:427-32. 2002
  3. ncbi request reprint A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness
    Klemens Frei
    Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Bruder, Vienna, Austria
    Audiol Neurootol 9:47-50. 2004
  4. ncbi request reprint Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria
    Klemens Frei
    Department of Otorhinolaryngology, University Hospital of Vienna, University of Vienna, AKH 8J Waehringer, Gürtel 18 20, Vienna A 1090, Austria
    Hear Res 194:81-6. 2004
  5. ncbi request reprint Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
    Klemens Frei
    Department of Otorhinolaryngology, Medical University of Vienna, AKH 8J, Waehringer Gurtel 18 20, Vienna A 1090, Austria
    Hear Res 196:115-8. 2004
  6. ncbi request reprint GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling
    Klemens Frei
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Laryngoscope 115:461-5. 2005
  7. ncbi request reprint Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Otol Neurotol 28:884-6. 2007
  8. ncbi request reprint High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Ear Hear 28:298-301. 2007
  9. doi request reprint A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Division of Molecular Pharmacokinetics and Imaging, Biochemical Genetics and National Neonatal Screening Laboratories, Vienna, Austria
    Laryngoscope 120:359-64. 2010
  10. ncbi request reprint Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family
    Chike Bellarmine Item
    University Hospital of Cranio Maxillofacial and Oral Surgery, Medical University of Vienna, A 1090 Vienna, Austria
    Int J Mol Med 15:247-51. 2005

Collaborators

  • Mustafa Tekin
  • Rosamaria Santarelli
  • S Berrettini
  • Paola Primignani
  • Felipe Moreno
  • Reinhard Ramsebner
  • Trevor Lucas
  • Wolf Dieter Baumgartner
  • Martin Ludwig
  • Christian Schoefer
  • Montserrat Rodríguez-Ballesteros
  • Franz J Wachtler
  • Ines Haberl
  • Karin Kirschhofer
  • Chike Bellarmine Item
  • Thomas Parzefall
  • Olaf Bodamer
  • Filiz Basak Cengiz
  • Christiane Völter
  • Nancy Gelvez
  • M Cruz Tapia
  • Carlos Curet
  • R Bachmann
  • Miguel A Moreno-Pelayo
  • Socorro Tedín
  • Manuel Sainz-Quevedo
  • Pierangela Castorina
  • Ignacio del Castillo
  • Margarita Olarte
  • Janine Smith
  • Elena Gómez-Rosas
  • José Moreno-Barral
  • Edoardo Arslan
  • Umberto Ambrosetti
  • Raúl Reynoso
  • Constantino Morera
  • Mirta Martín
  • Martalucía Tamayo
  • Carme Medà
  • Laura Cavallé
  • Manuela Villamar
  • Daniel Doberer
  • Irene Lang
  • Romana Volker
  • Klara Weipoltshammer
  • Sulaima Albinni
  • Gertrude Hamader
  • Ventzislav Petkov
  • Wilhelm Mosgoeller
  • Wasiu Lanre Adeyemo
  • Rolf Ewers
  • Dritan Turhani
  • Klaus Sinko
  • Kaan Yerit
  • Nihan Erginel-Unaltuna
  • Franz Watzinger
  • Dietmar Thurnher
  • Gert Wittwer
  • H P Eugster
  • H Lassmann
  • A Fontana

Detail Information

Publications13

  1. ncbi request reprint Expression and function of sialoadhesin in rat alveolar macrophages
    K Frei
    Institute of Histology and Embryology, University of Vienna, Schwarzspanierstrasse 17, A 1090, Vienna, Austria
    Immunol Lett 71:167-70. 2000
    ..It is demonstrated that rat Amφ express Sn and evidence is provided that SAR and SER-like activities are mediated by Sn...
  2. ncbi request reprint Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
    Klemens Frei
    Department of Otorhinolaryngology, AKH 8J, Wahringer Gurtel 18 20, Vienna, Austria, A 1090
    Eur J Hum Genet 10:427-32. 2002
    ..7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method...
  3. ncbi request reprint A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness
    Klemens Frei
    Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Bruder, Vienna, Austria
    Audiol Neurootol 9:47-50. 2004
    ..Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration...
  4. ncbi request reprint Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria
    Klemens Frei
    Department of Otorhinolaryngology, University Hospital of Vienna, University of Vienna, AKH 8J Waehringer, Gürtel 18 20, Vienna A 1090, Austria
    Hear Res 194:81-6. 2004
    ..Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations...
  5. ncbi request reprint Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
    Klemens Frei
    Department of Otorhinolaryngology, Medical University of Vienna, AKH 8J, Waehringer Gurtel 18 20, Vienna A 1090, Austria
    Hear Res 196:115-8. 2004
    ..Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria...
  6. ncbi request reprint GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling
    Klemens Frei
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Laryngoscope 115:461-5. 2005
    ..Alterations in the gap junction protein beta 2 (GJB2) and gap junction protein beta 6 (GJB6) are associated with nonsyndromic hearing impairment and should have a significant impact on genetic counseling...
  7. ncbi request reprint Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Otol Neurotol 28:884-6. 2007
    ..To analyze the prevalence and importance of the maternally inherited A1555G mutation in the 12S rRNA gene in the Austrian population...
  8. ncbi request reprint High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Medical University of Vienna, Austria
    Ear Hear 28:298-301. 2007
    ..The aim of the present study was to evaluate gap junction protein beta2 (GJB2) genetic testing within a national neonate screening program for hearing loss (HL) in a European population...
  9. doi request reprint A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia
    Reinhard Ramsebner
    Department of Otorhinolaryngology, Division of Molecular Pharmacokinetics and Imaging, Biochemical Genetics and National Neonatal Screening Laboratories, Vienna, Austria
    Laryngoscope 120:359-64. 2010
    ..Analysis of association between genotype and phenotype...
  10. ncbi request reprint Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family
    Chike Bellarmine Item
    University Hospital of Cranio Maxillofacial and Oral Surgery, Medical University of Vienna, A 1090 Vienna, Austria
    Int J Mol Med 15:247-51. 2005
    ..Our results suggest a dominant negative effect of the p.Arg84Gly mutation in the VWS of both patients. Non-penetrance of this mutation is suggested in the mother of the patients...
  11. pmc Impairment of TNF-receptor-1 signaling but not fas signaling diminishes T-cell apoptosis in myelin oligodendrocyte glycoprotein peptide-induced chronic demyelinating autoimmune encephalomyelitis in mice
    R Bachmann
    Institute of Neurology, University of Vienna, Schwarzspanierstrasse 17, 1090 Wien, Austria
    Am J Pathol 154:1417-22. 1999
    ..Our study thus identified the TNF receptor 1 signaling pathway as one mechanism responsible for the removal of T lymphocytes from inflammatory demyelinating lesions of the central nervous system...
  12. ncbi request reprint Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension
    Ines Haberl
    Medical University of Vienna, Department of Internal Medicine I, Division Institute of Cancer Research, Borschkegasse 8a, Vienna A 1090, Austria
    Eur J Hum Genet 15:18-22. 2007
    ..Apart from the importance of VIP signalling, genetic and/or environmental modifiers might therefore contribute to the development and perpetuation of the disease...
  13. doi request reprint A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
    Montserrat Rodríguez-Ballesteros
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
    Hum Mutat 29:823-31. 2008
    ..Our results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy...